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Results for the Protein:
P68871
56749856
3043
HBB
NCBI
,
UniProt
HBB_HUMAN RecName: Full=Hemoglobin subunit beta; AltName: Full=Beta-globin; AltName: Full=Hemoglobin beta chain; Contains: RecName: Full=LVV-hemorphin-7; Contains: RecName: Full=Spinorphin
Known Diseases associated with this Protein:
BETA-HOUSTON-THALASSEMIA
BETA-KNOSSOS-THALASSEMIA
BETA-MALAY-THALASSEMIA
BETA-PLUS-THALASSEMIA
BETA-PLUS-THALASSEMIA, DOMINANT;;
BETA-PLUS-THALASSEMIA;;
BETA-SHOWA-YAKUSHIJI THALASSEMIA
BETA-THALASSEMIA INTERMEDIA
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE
BETA-ZERO-THALASSEMIA
HB AUBENAS
HB CAMPERDOWN
HB GAMBARA
HEINZ BODY HEMOLYTIC ANEMIA
HEMOGLOBIN 'T LANGE LAND
HEMOGLOBIN AALBORG
HEMOGLOBIN ABRAHAM LINCOLN;;
HEMOGLOBIN ABRUZZO
HEMOGLOBIN ALABAMA
HEMOGLOBIN ALAMO
HEMOGLOBIN ALBERTA
HEMOGLOBIN ALESHA
HEMOGLOBIN ALTDORF
HEMOGLOBIN ANDREW-MINNEAPOLIS
HEMOGLOBIN ANKARA
HEMOGLOBIN ARTA
HEMOGLOBIN ATHENS-GEORGIA
HEMOGLOBIN ATLANTA
HEMOGLOBIN AUBAGNE
HEMOGLOBIN AURORA
HEMOGLOBIN AUSTIN
HEMOGLOBIN AVICENNA
HEMOGLOBIN BAB-SAADOUN
HEMOGLOBIN BADEN
HEMOGLOBIN BARBIZON
HEMOGLOBIN BARCELONA
HEMOGLOBIN BAYLOR
HEMOGLOBIN BECKMAN
HEMOGLOBIN BEIRUT
HEMOGLOBIN BELFAST
HEMOGLOBIN BEOGRAD
HEMOGLOBIN BETH ISRAEL
HEMOGLOBIN BETHESDA
HEMOGLOBIN BICETRE
HEMOGLOBIN BOLOGNA
HEMOGLOBIN BOLOGNA-ST. ORSOLA
HEMOGLOBIN BORAS
HEMOGLOBIN BOUGARDIREY-MALI
HEMOGLOBIN BREM-SUR-MER
HEMOGLOBIN BRESCIA;;
HEMOGLOBIN BREST
HEMOGLOBIN BRIE COMTE ROBERT
HEMOGLOBIN BRIGHAM
HEMOGLOBIN BRISBANE
HEMOGLOBIN BRITISH COLUMBIA
HEMOGLOBIN BROCKTON
HEMOGLOBIN BRYN MAWR
HEMOGLOBIN BUCURESTI
HEMOGLOBIN BUENOS AIRES
HEMOGLOBIN BUNBURY
HEMOGLOBIN BURKE
HEMOGLOBIN BURTON-UPON-TRENT
HEMOGLOBIN BUSHWICK
HEMOGLOBIN BUZEN
HEMOGLOBIN C
HEMOGLOBIN CAGLIARI
HEMOGLOBIN CALAIS
HEMOGLOBIN CAMDEN
HEMOGLOBIN CANTERBURY
HEMOGLOBIN CARDARELLI
HEMOGLOBIN CARIBBEAN
HEMOGLOBIN CASABLANCA
HEMOGLOBIN CASPER
HEMOGLOBIN CASTILLA
HEMOGLOBIN CHANDIGARH
HEMOGLOBIN CHAYA
HEMOGLOBIN CHEMILLY
HEMOGLOBIN CHESTERFIELD
HEMOGLOBIN CHEVERLY
HEMOGLOBIN CHIBA;;
HEMOGLOBIN CHICO
HEMOGLOBIN CHILE
HEMOGLOBIN CHORI
HEMOGLOBIN CHRISTCHURCH
HEMOGLOBIN CITY OF HOPE
HEMOGLOBIN CLEVELAND
HEMOGLOBIN COCHIN-PORT ROYAL
HEMOGLOBIN COCODY
HEMOGLOBIN COIMBRA
HEMOGLOBIN COLIMA
HEMOGLOBIN COLLINGWOOD
HEMOGLOBIN COMPLUTENSE
HEMOGLOBIN CONNECTICUT
HEMOGLOBIN COSTA RICA
HEMOGLOBIN COWTOWN
HEMOGLOBIN CRETE
HEMOGLOBIN CRETEIL
HEMOGLOBIN D (AGRI)
HEMOGLOBIN D (BUSHMAN)
HEMOGLOBIN D (CAMPERDOWN)
HEMOGLOBIN D (GRANADA)
HEMOGLOBIN D (IBADAN)
HEMOGLOBIN D (IRAN)
HEMOGLOBIN D (NEATH)
HEMOGLOBIN D (OULED RABAH)
HEMOGLOBIN DEACONESS
HEMOGLOBIN DEBROUSSE
HEMOGLOBIN DEER LODGE
HEMOGLOBIN DENVER
HEMOGLOBIN DETROIT
HEMOGLOBIN DHOFAR
HEMOGLOBIN DHONBURI
HEMOGLOBIN DIEPPE
HEMOGLOBIN DJELFA
HEMOGLOBIN DRENTHE
HEMOGLOBIN DUARTE
HEMOGLOBIN DUINO
HEMOGLOBIN DURHAM-N.C.
HEMOGLOBIN E (SASKATOON)
HEMOGLOBIN EDMONTON
HEMOGLOBIN ERNZ
HEMOGLOBIN EXTREMADURA
HEMOGLOBIN FANNIN-LUBBOCK
HEMOGLOBIN FUKUOKA
HEMOGLOBIN FUKUYAMA
HEMOGLOBIN G (COPENHAGEN)
HEMOGLOBIN G (COUSHATTA)
HEMOGLOBIN G (FERRARA)
HEMOGLOBIN G (GALVESTON)
HEMOGLOBIN G (HONAN)
HEMOGLOBIN G (HSI-TSOU)
HEMOGLOBIN G (HSIN-CHU);;
HEMOGLOBIN G (MAKASSAR)
HEMOGLOBIN G (PORT ARTHUR);;
HEMOGLOBIN G (SAN JOSE)
HEMOGLOBIN G (SASKATOON);;
HEMOGLOBIN G (SZUHU)
HEMOGLOBIN G (TAEGU)
HEMOGLOBIN G (TAIPEI)
HEMOGLOBIN G (TAIWAN-AMI)
HEMOGLOBIN G (TEXAS)
HEMOGLOBIN GAINESVILLE-GA
HEMOGLOBIN GAVELLO
HEMOGLOBIN GEELONG
HEMOGLOBIN GELDROP ST. ANNA
HEMOGLOBIN GENOVA
HEMOGLOBIN GIFU
HEMOGLOBIN GRANGE-BLANCHE
HEMOGLOBIN GRAZ
HEMOGLOBIN GREAT LAKES
HEMOGLOBIN GRENOBLE
HEMOGLOBIN HACETTEPE
HEMOGLOBIN HAFNIA
HEMOGLOBIN HAKKARI
HEMOGLOBIN HAMILTON
HEMOGLOBIN HAMMERSMITH
HEMOGLOBIN HARROW
HEMOGLOBIN HAZEBROUCK
HEMOGLOBIN HEATHROW
HEMOGLOBIN HELSINKI
HEMOGLOBIN HENRI MONDOR
HEMOGLOBIN HIJIYAMA
HEMOGLOBIN HIKARI
HEMOGLOBIN HIMEJI
HEMOGLOBIN HINSDALE
HEMOGLOBIN HINWIL
HEMOGLOBIN HIROSE
HEMOGLOBIN HIROSHIMA
HEMOGLOBIN HK
HEMOGLOBIN HOFU
HEMOGLOBIN HOKUSETSU
HEMOGLOBIN HOPE
HEMOGLOBIN HOPKINS 1;;
HEMOGLOBIN HOSHIDA
HEMOGLOBIN HOTEL-DIEU
HEMOGLOBIN HOUSTON
HEMOGLOBIN HOWICK
HEMOGLOBIN HRADEC KRALOVE
HEMOGLOBIN HYOGO
HEMOGLOBIN I (HIGH WYCOMBE)
HEMOGLOBIN I (TOULOUSE)
HEMOGLOBIN ILMENAU
HEMOGLOBIN INDIANAPOLIS
HEMOGLOBIN IOWA
HEMOGLOBIN IRAQ-HALABJA
HEMOGLOBIN ISTANBUL
HEMOGLOBIN J (ALTGELD GARDENS)
HEMOGLOBIN J (AMIENS)
HEMOGLOBIN J (AUCKLAND)
HEMOGLOBIN J (BALTIMORE)
HEMOGLOBIN J (BANGKOK)
HEMOGLOBIN J (BARI)
HEMOGLOBIN J (CAIRO)
HEMOGLOBIN J (CALABRIA)
HEMOGLOBIN J (CAMBRIDGE)
HEMOGLOBIN J (CHICAGO)
HEMOGLOBIN J (CORDOBA)
HEMOGLOBIN J (COSENZA);;
HEMOGLOBIN J (DALOA)
HEMOGLOBIN J (EUROPA)
HEMOGLOBIN J (GEORGIA);;
HEMOGLOBIN J (GUANTANAMO)
HEMOGLOBIN J (HONOLULU)
HEMOGLOBIN J (IRAN)
HEMOGLOBIN J (IRELAND);;
HEMOGLOBIN J (KAOHSIUNG)
HEMOGLOBIN J (KORAT);;
HEMOGLOBIN J (LENS)
HEMOGLOBIN J (LOME)
HEMOGLOBIN J (LUHE)
HEMOGLOBIN J (MANADO);;
HEMOGLOBIN J (MEINUNG)
HEMOGLOBIN J (RAMBAM)
HEMOGLOBIN J (SICILIA)
HEMOGLOBIN J (TRINIDAD);;
HEMOGLOBIN JACKSONVILLE
HEMOGLOBIN JAMAICA PLAIN
HEMOGLOBIN JENKINS;;
HEMOGLOBIN JIANGHUA
HEMOGLOBIN JINAN
HEMOGLOBIN JOHNSTOWN
HEMOGLOBIN K (CAMEROON)
HEMOGLOBIN K (IBADAN)
HEMOGLOBIN K (WOOLWICH)
HEMOGLOBIN KAIROUAN
HEMOGLOBIN KANSAS
HEMOGLOBIN KAOHSIUNG
HEMOGLOBIN KARATSU
HEMOGLOBIN KARLSKOGA
HEMOGLOBIN KEMPSEY
HEMOGLOBIN KENITRA
HEMOGLOBIN KENWOOD
HEMOGLOBIN KHARTOUM
HEMOGLOBIN KNOSSOS
HEMOGLOBIN KOBE
HEMOGLOBIN KODAIRA II
HEMOGLOBIN KOFU
HEMOGLOBIN KORLE-BU
HEMOGLOBIN LA CORUNA
HEMOGLOBIN LA DESIRADE
HEMOGLOBIN LA ROCHE-SUR-YON
HEMOGLOBIN LAS PALMAS
HEMOGLOBIN LESLIE;;
HEMOGLOBIN LIMASSOL
HEMOGLOBIN LINKOPING
HEMOGLOBIN LITTLE ROCK
HEMOGLOBIN LOUISVILLE
HEMOGLOBIN LUCKNOW
HEMOGLOBIN LUFKIN
HEMOGLOBIN M (AKITA)
HEMOGLOBIN M (ARHUS);;
HEMOGLOBIN M (CHICAGO);;
HEMOGLOBIN M (EMORY);;
HEMOGLOBIN M (ERLANG
HEMOGLOBIN M (HYDE PARK);;
HEMOGLOBIN M (MILWAUKEE 1)
HEMOGLOBIN M (MILWAUKEE 2)
HEMOGLOBIN M (SASKATOON)
HEMOGLOBIN MACHIDA
HEMOGLOBIN MADRID
HEMOGLOBIN MALAY
HEMOGLOBIN MALMO
HEMOGLOBIN MANUKAU
HEMOGLOBIN MAPUTO
HEMOGLOBIN MARINEO
HEMOGLOBIN MASUDA
HEMOGLOBIN MATERA
HEMOGLOBIN MCKEES ROCKS
HEMOGLOBIN MEDICINE LAKE
HEMOGLOBIN MEILAHTI
HEMOGLOBIN MEQUON
HEMOGLOBIN MINNEAPOLIS-LAOS
HEMOGLOBIN MISSISSIPPI
HEMOGLOBIN MITO
HEMOGLOBIN MIYASHIRO
HEMOGLOBIN MIZUHO
HEMOGLOBIN MIZUNAMI
HEMOGLOBIN MOBILE
HEMOGLOBIN MOLFETTA
HEMOGLOBIN MONROE
HEMOGLOBIN MONT SAINT-AIGNAN
HEMOGLOBIN MORIGUCHI
HEMOGLOBIN MOSCVA
HEMOGLOBIN MOTOWN;;
HEMOGLOBIN MOZHAISK
HEMOGLOBIN MS
HEMOGLOBIN MUSCAT
HEMOGLOBIN MUSKEGON
HEMOGLOBIN N (BALTIMORE)
HEMOGLOBIN N (JENKINS);;
HEMOGLOBIN N (MEMPHIS)
HEMOGLOBIN N (N
HEMOGLOBIN N (SEATTLE)
HEMOGLOBIN N (TIMONE)
HEMOGLOBIN N, BETA TYPE
HEMOGLOBIN NAGASAKI
HEMOGLOBIN NAGOYA
HEMOGLOBIN NAKANO
HEMOGLOBIN NEAPOLIS
HEMOGLOBIN NEVERS
HEMOGLOBIN NEW MEXICO
HEMOGLOBIN NEW YORK
HEMOGLOBIN NIKOSIA
HEMOGLOBIN NORTH CHICAGO
HEMOGLOBIN NORTH SHORE
HEMOGLOBIN NORTH SHORE-CARACAS
HEMOGLOBIN NOTTINGHAM
HEMOGLOBIN OCHO RIOS
HEMOGLOBIN OHIO
HEMOGLOBIN OKALOOSA
HEMOGLOBIN OKAYAMA
HEMOGLOBIN OLD DOMINION
HEMOGLOBIN OLMSTED
HEMOGLOBIN OLOMOUC
HEMOGLOBIN OLYMPIA
HEMOGLOBIN P
HEMOGLOBIN P (GALVESTON)
HEMOGLOBIN PALMERSTON NORTH
HEMOGLOBIN PASADENA
HEMOGLOBIN PERTH
HEMOGLOBIN PETERBOROUGH
HEMOGLOBIN PHILLY
HEMOGLOBIN PIERRE-BENITE
HEMOGLOBIN PITIE-SALPETRIERE
HEMOGLOBIN POCOS DE CALDAS
HEMOGLOBIN POISSY
HEMOGLOBIN PORTO ALEGRE
HEMOGLOBIN POTOMAC
HEMOGLOBIN PRESBYTERIAN
HEMOGLOBIN PUTTELANGE
HEMOGLOBIN PYRGOS
HEMOGLOBIN QUEBEC-CHORI
HEMOGLOBIN QUIN-HAI
HEMOGLOBIN RADCLIFFE
HEMOGLOBIN RAHERE
HEMOGLOBIN RAINIER
HEMOGLOBIN RANCHO MIRAGE
HEMOGLOBIN RANDWICK
HEMOGLOBIN REGINA
HEMOGLOBIN REISSMANN ET AL.
HEMOGLOBIN RENERT
HEMOGLOBIN RICHMOND
HEMOGLOBIN RIO CLARO
HEMOGLOBIN RIO GRANDE
HEMOGLOBIN RIVERDALE-BRONX
HEMOGLOBIN RIYADH
HEMOGLOBIN ROCKFORD
HEMOGLOBIN ROSEAU-POINTE A PITRE
HEMOGLOBIN ROTHSCHILD
HEMOGLOBIN RUSH
HEMOGLOBIN S (ANTILLES)
HEMOGLOBIN S (CAMEROON)
HEMOGLOBIN S (OMAN)
HEMOGLOBIN S (PROVIDENCE)
HEMOGLOBIN S (TRAVIS)
HEMOGLOBIN S/O (ARAB)
HEMOGLOBIN SAALE
HEMOGLOBIN SABINE
HEMOGLOBIN SAGAMI
HEMOGLOBIN SAINT ETIENNE
HEMOGLOBIN SAINT JACQUES
HEMOGLOBIN SAINT NAZAIRE
HEMOGLOBIN SAITAMA
HEMOGLOBIN SAKI
HEMOGLOBIN SAN DIEGO
HEMOGLOBIN SANTA ANA
HEMOGLOBIN SANTA CLARA
HEMOGLOBIN SANTANDER
HEMOGLOBIN SARREBOURG
HEMOGLOBIN SAVANNAH
HEMOGLOBIN SEATTLE
HEMOGLOBIN SENDAGI
HEMOGLOBIN SHANGHAI
HEMOGLOBIN SHELBY
HEMOGLOBIN SHEPHERDS BUSH
HEMOGLOBIN SHERWOOD FOREST
HEMOGLOBIN SHOWA-YAKUSHIJI
HEMOGLOBIN SILVER SPRINGS
HEMOGLOBIN SIRIRAJ
HEMOGLOBIN SITIA
HEMOGLOBIN SOGN
HEMOGLOBIN SOUTH MILWAUKEE
HEMOGLOBIN SOUTHAMPTON
HEMOGLOBIN SPARTA
HEMOGLOBIN ST. FRANCIS
HEMOGLOBIN ST. LOUIS
HEMOGLOBIN ST. MANDE
HEMOGLOBIN STANMORE
HEMOGLOBIN STRASBOURG
HEMOGLOBIN SUMMER HILL
HEMOGLOBIN SUNNYBROOK
HEMOGLOBIN SYDNEY
HEMOGLOBIN SYRACUSE
HEMOGLOBIN T (CAMBODIA)
HEMOGLOBIN TA-LI
HEMOGLOBIN TACOMA
HEMOGLOBIN TAKAMATSU
HEMOGLOBIN TAMPA
HEMOGLOBIN TENDE
HEMOGLOBIN TERRE HAUTE
HEMOGLOBIN TIANSHUI
HEMOGLOBIN TIGRAYE
HEMOGLOBIN TILBURG
HEMOGLOBIN TIZI-OUZOU
HEMOGLOBIN TOKUCHI
HEMOGLOBIN TOULOUSE
HEMOGLOBIN TOYOAKE
HEMOGLOBIN TRIPOLI
HEMOGLOBIN TROLLHAETTAN
HEMOGLOBIN TSUKUMI
HEMOGLOBIN TSURUMAI
HEMOGLOBIN TUBINGEN
HEMOGLOBIN TUNIS
HEMOGLOBIN TY GARD
HEMOGLOBIN TYNE
HEMOGLOBIN VAASA
HEMOGLOBIN VALLETTA
HEMOGLOBIN VANCOUVER
HEMOGLOBIN VANDERBILT
HEMOGLOBIN VILA REAL
HEMOGLOBIN VILLAVERDE
HEMOGLOBIN VILLEJUIF
HEMOGLOBIN VOLGA
HEMOGLOBIN WACO
HEMOGLOBIN WARSAW
HEMOGLOBIN WARWICKSHIRE
HEMOGLOBIN WASHTENAW
HEMOGLOBIN WIEN
HEMOGLOBIN WILLAMETTE
HEMOGLOBIN WINDSOR
HEMOGLOBIN WOOD
HEMOGLOBIN YAHATA
HEMOGLOBIN YAIZU
HEMOGLOBIN YAKIMA
HEMOGLOBIN YAMAGATA
HEMOGLOBIN YAOUNDE
HEMOGLOBIN YATSUSHIRO
HEMOGLOBIN YOKOHAMA
HEMOGLOBIN YORK
HEMOGLOBIN YOSHIZUKA
HEMOGLOBIN YPSILANTI
HEMOGLOBIN YUKUHASHI
HEMOGLOBIN YUSA
HEMOGLOBIN ZENGCHENG
HEMOGLOBIN ZOETERWOUDE
HEMOGLOBIN ZURICH
MALARIA, RESISTANCE TO, INCLUDED
386
257
386
2
255
Tips:
The Domains on the Default View are decided by the Domain's E-Value.
Clicking a check box will display or hide the correlated domain.
To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.
Default View:
globin - cd01040
Globin - pfam00042
Swiss-Prot Protein:
P68871
Identical to:
NP_000509
Default View:
Domains
found on the Protein
Domain ↕
CD Accession ↕
E-Value ↕
Start ↕
End ↕
Globin
pfam00042
4e-46
8
112
Table of Mutations found on the Protein
Source ↕
Mut_ID ↕
Class ↕
HGVS ↕
Disease ↕
Swiss-Prot
VAR_002872
Polymorphism
p.ALA11ASP
N/A
Swiss-Prot
VAR_003037
Polymorphism
p.ALA116ASP
N/A
Swiss-Prot
VAR_003060
Polymorphism
p.ALA129ASP
N/A
Swiss-Prot
VAR_002875
Polymorphism
p.ALA14ASP
N/A
Swiss-Prot
VAR_003080
Polymorphism
p.ALA141ASP
N/A
Swiss-Prot
VAR_003084
Polymorphism
p.ALA143ASP
N/A
Swiss-Prot
VAR_002909
Polymorphism
p.ALA28ASP
N/A
Swiss-Prot
VAR_002955
Polymorphism
p.ALA63ASP
N/A
Swiss-Prot
VAR_002969
Polymorphism
p.ALA71ASP
N/A
Swiss-Prot
VAR_002978
Polymorphism
p.ALA77ASP
N/A
Swiss-Prot
VAR_002989
Polymorphism
p.ALA87ASP
N/A
Swiss-Prot
VAR_003073
Polymorphism
p.ALA136GLU
N/A
Swiss-Prot
VAR_003038
Polymorphism
p.ALA116PRO
N/A
Swiss-Prot
VAR_003061
Polymorphism
p.ALA130PRO
N/A
Swiss-Prot
VAR_003074
Polymorphism
p.ALA136PRO
N/A
Swiss-Prot
VAR_003076
Polymorphism
p.ALA139PRO
N/A
Swiss-Prot
VAR_002956
Polymorphism
p.ALA63PRO
N/A
Swiss-Prot
VAR_002910
Polymorphism
p.ALA28SER
N/A
Swiss-Prot
VAR_003081
Polymorphism
p.ALA141THR
N/A
Swiss-Prot
VAR_025393
Polymorphism
p.ALA11VAL
N/A
Swiss-Prot
VAR_003062
Polymorphism
p.ALA130VAL
N/A
Swiss-Prot
VAR_003082
Polymorphism
p.ALA141VAL
N/A
Swiss-Prot
VAR_002911
Polymorphism
p.ALA28VAL
N/A
Swiss-Prot
VAR_003028
Polymorphism
p.ARG105SER
N/A
Swiss-Prot
VAR_002914
Polymorphism
p.ARG31SER
N/A
Swiss-Prot
VAR_003029
Polymorphism
p.ARG105THR
N/A
Swiss-Prot
VAR_003077
Polymorphism
p.ASN140ASP
N/A
Swiss-Prot
VAR_002886
Polymorphism
p.ASN20ASP
N/A
Swiss-Prot
VAR_003031
Polymorphism
p.ASN109LYS
N/A
Swiss-Prot
VAR_003078
Polymorphism
p.ASN140LYS
N/A
Swiss-Prot
VAR_002887
Polymorphism
p.ASN20LYS
N/A
Swiss-Prot
VAR_002948
Polymorphism
p.ASN58LYS
N/A
Swiss-Prot
VAR_002984
Polymorphism
p.ASN81LYS
N/A
Swiss-Prot
VAR_003025
Polymorphism
p.ASN103SER
N/A
Swiss-Prot
VAR_025335
Polymorphism
p.ASN140SER
N/A
Swiss-Prot
VAR_002888
Polymorphism
p.ASN20SER
N/A
Swiss-Prot
VAR_003026
Polymorphism
p.ASN103TYR
N/A
Swiss-Prot
VAR_003079
Polymorphism
p.ASN140TYR
N/A
Swiss-Prot
VAR_002936
Polymorphism
p.ASP48ALA
N/A
Swiss-Prot
VAR_002943
Polymorphism
p.ASP53ALA
N/A
Swiss-Prot
VAR_002891
Polymorphism
p.ASP22ASN
N/A
Swiss-Prot
VAR_003008
Polymorphism
p.ASP95ASN
N/A
Swiss-Prot
VAR_003018
Polymorphism
p.ASP100GLU
N/A
Swiss-Prot
VAR_002890
Polymorphism
p.ASP22GLY
N/A
Swiss-Prot
VAR_002937
Polymorphism
p.ASP48GLY
N/A
Swiss-Prot
VAR_002971
Polymorphism
p.ASP74GLY
N/A
Swiss-Prot
VAR_003006
Polymorphism
p.ASP95GLY
N/A
Swiss-Prot
VAR_002892
Polymorphism
p.ASP22HIS
N/A
Swiss-Prot
VAR_002944
Polymorphism
p.ASP53HIS
N/A
Swiss-Prot
VAR_003007
Polymorphism
p.ASP95HIS
N/A
Swiss-Prot
VAR_002893
Polymorphism
p.ASP22TYR
N/A
Swiss-Prot
VAR_002938
Polymorphism
p.ASP48TYR
N/A
Swiss-Prot
VAR_002973
Polymorphism
p.ASP74TYR
N/A
Swiss-Prot
VAR_002983
Polymorphism
p.ASP80TYR
N/A
Swiss-Prot
VAR_002972
Polymorphism
p.ASP74VAL
N/A
Swiss-Prot
VAR_003035
Polymorphism
p.CYS113ARG
N/A
Swiss-Prot
VAR_003005
Polymorphism
p.CYS94ARG
N/A
Swiss-Prot
VAR_025397
Polymorphism
p.CYS113PHE
N/A
Swiss-Prot
VAR_003036
Polymorphism
p.CYS113TYR
N/A
Swiss-Prot
VAR_003068
Polymorphism
p.GLN132ARG
N/A
Swiss-Prot
VAR_002929
Polymorphism
p.GLN40ARG
N/A
Swiss-Prot
VAR_003058
Polymorphism
p.GLN128GLU
N/A
Swiss-Prot
VAR_003065
Polymorphism
p.GLN132GLU
N/A
Swiss-Prot
VAR_002927
Polymorphism
p.GLN40GLU
N/A
Swiss-Prot
VAR_003059
Polymorphism
p.GLN128LYS
N/A
Swiss-Prot
VAR_003066
Polymorphism
p.GLN132LYS
N/A
Swiss-Prot
VAR_002928
Polymorphism
p.GLN40LYS
N/A
Swiss-Prot
VAR_003067
Polymorphism
p.GLN132PRO
N/A
Swiss-Prot
VAR_003046
Polymorphism
p.GLU122ALA
N/A
Swiss-Prot
VAR_002894
Polymorphism
p.GLU23ALA
N/A
Swiss-Prot
VAR_002862
Polymorphism
p.GLU7ALA
N/A
Swiss-Prot
VAR_003021
Polymorphism
p.GLU102ASP
N/A
Swiss-Prot
VAR_002997
Polymorphism
p.GLU91ASP
N/A
Swiss-Prot
VAR_003024
Polymorphism
p.GLU102GLN
N/A
Swiss-Prot
VAR_003048
Polymorphism
p.GLU122GLN
N/A
Swiss-Prot
VAR_002897
Polymorphism
p.GLU23GLN
N/A
Swiss-Prot
VAR_002932
Polymorphism
p.GLU44GLN
N/A
Swiss-Prot
VAR_002865
Polymorphism
p.GLU7GLN
N/A
Swiss-Prot
VAR_003022
Polymorphism
p.GLU102GLY
N/A
Swiss-Prot
VAR_003047
Polymorphism
p.GLU122GLY
N/A
Swiss-Prot
VAR_002895
Polymorphism
p.GLU23GLY
N/A
Swiss-Prot
VAR_002866
Polymorphism
p.GLU8GLY
N/A
Swiss-Prot
VAR_003023
Polymorphism
p.GLU102LYS
N/A
Swiss-Prot
VAR_003049
Polymorphism
p.GLU122LYS
N/A
Swiss-Prot
VAR_002896
Polymorphism
p.GLU23LYS
N/A
Swiss-Prot
VAR_002907
Polymorphism
p.GLU27LYS
N/A
Swiss-Prot
VAR_002864
Polymorphism
p.GLU7LYS
N/A
Swiss-Prot
VAR_002867
Polymorphism
p.GLU8LYS
N/A
Swiss-Prot
VAR_002998
Polymorphism
p.GLU91LYS
N/A
Swiss-Prot
VAR_003050
Polymorphism
p.GLU122VAL
N/A
Swiss-Prot
VAR_002898
Polymorphism
p.GLU23VAL
N/A
Swiss-Prot
VAR_002908
Polymorphism
p.GLU27VAL
N/A
dbSNP
rs77121243
Polymorphism
p.GLU7VAL
N/A
Swiss-Prot
VAR_003042
Polymorphism
p.GLY120ALA
N/A
Swiss-Prot
VAR_003030
Polymorphism
p.GLY108ARG
N/A
Swiss-Prot
VAR_002881
Polymorphism
p.GLY17ARG
N/A
Swiss-Prot
VAR_002903
Polymorphism
p.GLY25ARG
N/A
Swiss-Prot
VAR_002906
Polymorphism
p.GLY26ARG
N/A
Swiss-Prot
VAR_002947
Polymorphism
p.GLY57ARG
N/A
Swiss-Prot
VAR_002967
Polymorphism
p.GLY70ARG
N/A
Swiss-Prot
VAR_002974
Polymorphism
p.GLY75ARG
N/A
Swiss-Prot
VAR_002987
Polymorphism
p.GLY84ARG
N/A
Swiss-Prot
VAR_003075
Polymorphism
p.GLY137ASP
N/A
Swiss-Prot
VAR_002880
Polymorphism
p.GLY17ASP
N/A
Swiss-Prot
VAR_002902
Polymorphism
p.GLY25ASP
N/A
Swiss-Prot
VAR_002905
Polymorphism
p.GLY26ASP
N/A
Swiss-Prot
VAR_002913
Polymorphism
p.GLY30ASP
N/A
Swiss-Prot
VAR_002966
Polymorphism
p.GLY70ASP
N/A
Swiss-Prot
VAR_025396
Polymorphism
p.GLY84ASP
N/A
Swiss-Prot
VAR_002935
Polymorphism
p.GLY47GLU
N/A
Swiss-Prot
VAR_002968
Polymorphism
p.GLY70SER
N/A
Swiss-Prot
VAR_002904
Polymorphism
p.GLY25VAL
N/A
Swiss-Prot
VAR_002975
Polymorphism
p.GLY75VAL
N/A
Swiss-Prot
VAR_003041
Polymorphism
p.HIS118ARG
N/A
Swiss-Prot
VAR_003088
Polymorphism
p.HIS144ARG
N/A
Swiss-Prot
VAR_002859
Polymorphism
p.HIS3ARG
N/A
Swiss-Prot
VAR_002980
Polymorphism
p.HIS78ARG
N/A
Swiss-Prot
VAR_003002
Polymorphism
p.HIS93ASN
N/A
Swiss-Prot
VAR_003085
Polymorphism
p.HIS144ASP
N/A
Swiss-Prot
VAR_003092
Polymorphism
p.HIS147ASP
N/A
Swiss-Prot
VAR_002979
Polymorphism
p.HIS78ASP
N/A
Swiss-Prot
VAR_003001
Polymorphism
p.HIS93ASP
N/A
Swiss-Prot
VAR_003039
Polymorphism
p.HIS117GLN
N/A
Swiss-Prot
VAR_003086
Polymorphism
p.HIS144GLN
N/A
Swiss-Prot
VAR_003095
Polymorphism
p.HIS147GLN
N/A
dbSNP
rs713040
Polymorphism
p.HIS3GLN
N/A
Swiss-Prot
VAR_003004
Polymorphism
p.HIS93GLN
N/A
Swiss-Prot
VAR_003015
Polymorphism
p.HIS98GLN
N/A
Swiss-Prot
VAR_025398
Polymorphism
p.HIS117LEU
N/A
Swiss-Prot
VAR_003093
Polymorphism
p.HIS147LEU
N/A
Swiss-Prot
VAR_002857
Polymorphism
p.HIS3LEU
N/A
Swiss-Prot
VAR_003013
Polymorphism
p.HIS98LEU
N/A
Swiss-Prot
VAR_003040
Polymorphism
p.HIS118PRO
N/A
Swiss-Prot
VAR_003087
Polymorphism
p.HIS144PRO
N/A
Swiss-Prot
VAR_003094
Polymorphism
p.HIS147PRO
N/A
Swiss-Prot
VAR_003003
Polymorphism
p.HIS93PRO
N/A
Swiss-Prot
VAR_003014
Polymorphism
p.HIS98PRO
N/A
Swiss-Prot
VAR_025399
Polymorphism
p.HIS118TYR
N/A
Swiss-Prot
VAR_002860
Polymorphism
p.HIS3TYR
N/A
Swiss-Prot
VAR_002957
Polymorphism
p.HIS64TYR
N/A
Swiss-Prot
VAR_002981
Polymorphism
p.HIS78TYR
N/A
Swiss-Prot
VAR_003016
Polymorphism
p.HIS98TYR
N/A
Swiss-Prot
VAR_003083
Polymorphism
p.LEU142ARG
N/A
Swiss-Prot
VAR_002877
Polymorphism
p.LEU15ARG
N/A
Swiss-Prot
VAR_002916
Polymorphism
p.LEU33ARG
N/A
Swiss-Prot
VAR_002977
Polymorphism
p.LEU76ARG
N/A
Swiss-Prot
VAR_002982
Polymorphism
p.LEU79ARG
N/A
Swiss-Prot
VAR_002985
Polymorphism
p.LEU82ARG
N/A
Swiss-Prot
VAR_002994
Polymorphism
p.LEU89ARG
N/A
Swiss-Prot
VAR_003000
Polymorphism
p.LEU92ARG
N/A
Swiss-Prot
VAR_035236
Polymorphism
p.LEU29GLN
N/A
Swiss-Prot
VAR_002964
Polymorphism
p.LEU69HIS
N/A
Swiss-Prot
VAR_012663
Polymorphism
p.LEU82HIS
N/A
Swiss-Prot
VAR_010144
Polymorphism
p.LEU115MET
N/A
Swiss-Prot
VAR_003033
Polymorphism
p.LEU111PRO
N/A
Swiss-Prot
VAR_010145
Polymorphism
p.LEU115PRO
N/A
Swiss-Prot
VAR_002876
Polymorphism
p.LEU15PRO
N/A
Swiss-Prot
VAR_002912
Polymorphism
p.LEU29PRO
N/A
Swiss-Prot
VAR_002915
Polymorphism
p.LEU32PRO
N/A
Swiss-Prot
VAR_002939
Polymorphism
p.LEU49PRO
N/A
Swiss-Prot
VAR_002965
Polymorphism
p.LEU69PRO
N/A
Swiss-Prot
VAR_002976
Polymorphism
p.LEU76PRO
N/A
Swiss-Prot
VAR_002993
Polymorphism
p.LEU89PRO
N/A
Swiss-Prot
VAR_002999
Polymorphism
p.LEU92PRO
N/A
Swiss-Prot
VAR_003011
Polymorphism
p.LEU97PRO
N/A
Swiss-Prot
VAR_002917
Polymorphism
p.LEU33VAL
N/A
Swiss-Prot
VAR_049273
Polymorphism
p.LEU82VAL
N/A
Swiss-Prot
VAR_003012
Polymorphism
p.LEU97VAL
N/A
Swiss-Prot
VAR_003069
Polymorphism
p.LYS133ASN
N/A
Swiss-Prot
VAR_002883
Polymorphism
p.LYS18ASN
N/A
Swiss-Prot
VAR_002954
Polymorphism
p.LYS62ASN
N/A
Swiss-Prot
VAR_002959
Polymorphism
p.LYS66ASN
N/A
Swiss-Prot
VAR_012664
Polymorphism
p.LYS83ASN
N/A
Swiss-Prot
VAR_003010
Polymorphism
p.LYS96ASN
N/A
Swiss-Prot
VAR_003045
Polymorphism
p.LYS121GLN
N/A
Swiss-Prot
VAR_003070
Polymorphism
p.LYS133GLN
N/A
Swiss-Prot
VAR_002884
Polymorphism
p.LYS18GLN
N/A
Swiss-Prot
VAR_002960
Polymorphism
p.LYS66GLN
N/A
Swiss-Prot
VAR_002869
Polymorphism
p.LYS9GLN
N/A
Swiss-Prot
VAR_003043
Polymorphism
p.LYS121GLU
N/A
Swiss-Prot
VAR_003089
Polymorphism
p.LYS145GLU
N/A
Swiss-Prot
VAR_002882
Polymorphism
p.LYS18GLU
N/A
Swiss-Prot
VAR_002950
Polymorphism
p.LYS60GLU
N/A
Swiss-Prot
VAR_002952
Polymorphism
p.LYS62GLU
N/A
Swiss-Prot
VAR_002868
Polymorphism
p.LYS9GLU
N/A
Swiss-Prot
VAR_003044
Polymorphism
p.LYS121ILE
N/A
Swiss-Prot
VAR_002953
Polymorphism
p.LYS62MET
N/A
Swiss-Prot
VAR_002958
Polymorphism
p.LYS66MET
N/A
Swiss-Prot
VAR_002986
Polymorphism
p.LYS83MET
N/A
Swiss-Prot
VAR_003009
Polymorphism
p.LYS96MET
N/A
Swiss-Prot
VAR_002961
Polymorphism
p.LYS67THR
N/A
Swiss-Prot
VAR_002870
Polymorphism
p.LYS9THR
N/A
Swiss-Prot
VAR_002946
Polymorphism
p.MET56LYS
N/A
Swiss-Prot
VAR_003027
Polymorphism
p.PHE104LEU
N/A
Swiss-Prot
VAR_002931
Polymorphism
p.PHE43LEU
N/A
Swiss-Prot
VAR_035239
Polymorphism
p.PHE43SER
N/A
Swiss-Prot
VAR_002934
Polymorphism
p.PHE46SER
N/A
Swiss-Prot
VAR_002970
Polymorphism
p.PHE72SER
N/A
Swiss-Prot
VAR_002930
Polymorphism
p.PHE42TYR
N/A
Swiss-Prot
VAR_003020
Polymorphism
p.PRO101ARG
N/A
Swiss-Prot
VAR_003052
Polymorphism
p.PRO125ARG
N/A
Swiss-Prot
VAR_002920
Polymorphism
p.PRO37ARG
N/A
Swiss-Prot
VAR_002942
Polymorphism
p.PRO52ARG
N/A
Swiss-Prot
VAR_002949
Polymorphism
p.PRO59ARG
N/A
Swiss-Prot
VAR_002861
Polymorphism
p.PRO6ARG
N/A
Swiss-Prot
VAR_003053
Polymorphism
p.PRO125GLN
N/A
Swiss-Prot
VAR_003019
Polymorphism
p.PRO101LEU
N/A
Swiss-Prot
VAR_003054
Polymorphism
p.PRO125SER
N/A
Swiss-Prot
VAR_002921
Polymorphism
p.PRO37SER
N/A
Swiss-Prot
VAR_002922
Polymorphism
p.PRO37THR
N/A
Swiss-Prot
VAR_002996
Polymorphism
p.SER90ARG
N/A
Swiss-Prot
VAR_002995
Polymorphism
p.SER90ASN
N/A
Swiss-Prot
VAR_002871
Polymorphism
p.SER10CYS
N/A
Swiss-Prot
VAR_002933
Polymorphism
p.SER45CYS
N/A
Swiss-Prot
VAR_002940
Polymorphism
p.SER50PHE
N/A
Swiss-Prot
VAR_002926
Polymorphism
p.THR39ASN
N/A
Swiss-Prot
VAR_003051
Polymorphism
p.THR124ILE
N/A
Swiss-Prot
VAR_002988
Polymorphism
p.THR85ILE
N/A
Swiss-Prot
VAR_002990
Polymorphism
p.THR88ILE
N/A
Swiss-Prot
VAR_002941
Polymorphism
p.THR51LYS
N/A
Swiss-Prot
VAR_002991
Polymorphism
p.THR88LYS
N/A
Swiss-Prot
VAR_002992
Polymorphism
p.THR88PRO
N/A
Swiss-Prot
VAR_002879
Polymorphism
p.TRP16ARG
N/A
Swiss-Prot
VAR_002925
Polymorphism
p.TRP38ARG
N/A
Swiss-Prot
VAR_002878
Polymorphism
p.TRP16GLY
N/A
Swiss-Prot
VAR_002923
Polymorphism
p.TRP38GLY
N/A
Swiss-Prot
VAR_002924
Polymorphism
p.TRP38SER
N/A
Swiss-Prot
VAR_003063
Polymorphism
p.TYR131ASP
N/A
Swiss-Prot
VAR_003090
Polymorphism
p.TYR146CYS
N/A
Swiss-Prot
VAR_003091
Polymorphism
p.TYR146HIS
N/A
Swiss-Prot
VAR_002919
Polymorphism
p.TYR36PHE
N/A
Swiss-Prot
VAR_003064
Polymorphism
p.TYR131SER
N/A
Swiss-Prot
VAR_003034
Polymorphism
p.VAL112ALA
N/A
Swiss-Prot
VAR_003055
Polymorphism
p.VAL127ALA
N/A
Swiss-Prot
VAR_002856
Polymorphism
p.VAL2ALA
N/A
Swiss-Prot
VAR_002951
Polymorphism
p.VAL61ALA
N/A
Swiss-Prot
VAR_002962
Polymorphism
p.VAL68ALA
N/A
Swiss-Prot
VAR_002873
Polymorphism
p.VAL12ASP
N/A
Swiss-Prot
VAR_002899
Polymorphism
p.VAL24ASP
N/A
Swiss-Prot
VAR_025394
Polymorphism
p.VAL35ASP
N/A
Swiss-Prot
VAR_002945
Polymorphism
p.VAL55ASP
N/A
Swiss-Prot
VAR_035240
Polymorphism
p.VAL68ASP
N/A
Swiss-Prot
VAR_003057
Polymorphism
p.VAL127GLU
N/A
Swiss-Prot
VAR_003072
Polymorphism
p.VAL135GLU
N/A
Swiss-Prot
VAR_003056
Polymorphism
p.VAL127GLY
N/A
Swiss-Prot
VAR_002901
Polymorphism
p.VAL24GLY
N/A
Swiss-Prot
VAR_040060
Polymorphism
p.VAL68GLY
N/A
Swiss-Prot
VAR_003017
Polymorphism
p.VAL99GLY
N/A
Swiss-Prot
VAR_002874
Polymorphism
p.VAL12ILE
N/A
Swiss-Prot
VAR_003071
Polymorphism
p.VAL134LEU
N/A
Swiss-Prot
VAR_025395
Polymorphism
p.VAL35LEU
N/A
Swiss-Prot
VAR_003032
Polymorphism
p.VAL110MET
N/A
Swiss-Prot
VAR_002885
Polymorphism
p.VAL19MET
N/A
Swiss-Prot
VAR_002889
Polymorphism
p.VAL21MET
N/A
Swiss-Prot
VAR_002963
Polymorphism
p.VAL68MET
N/A
Swiss-Prot
VAR_002900
Polymorphism
p.VAL24PHE
N/A
Swiss-Prot
VAR_002918
Polymorphism
p.VAL35PHE
N/A
OMIM
141900.0009
Disease
p.ALA10ASP
HEMOGLOBIN ANKARA
OMIM
141900.0437
Disease
p.ALA115ASP
HEMOGLOBIN HRADEC KRALOVE||HEMOGLOBIN HK
OMIM
141900.0130
Disease
p.ALA128ASP
HEMOGLOBIN J (GUANTANAMO)
OMIM
141900.0138
141900.0141
Disease
p.ALA129ASP
HEMOGLOBIN K (CAMEROON)
OMIM
141900.0133
Disease
p.ALA13ASP
HEMOGLOBIN J (LENS)
OMIM
141900.0107
Disease
p.ALA140ASP
HEMOGLOBIN HIMEJI
OMIM
141900.0204
Disease
p.ALA142ASP
HEMOGLOBIN OHIO
OMIM
141900.0295
Disease
p.ALA27ASP
HEMOGLOBIN VOLGA||HEMOGLOBIN DRENTHE
OMIM
141900.0465
Disease
p.ALA62ASP
HEMOGLOBIN J (EUROPA)
OMIM
141900.0256
Disease
p.ALA70ASP
HEMOGLOBIN SEATTLE
OMIM
141900.0127
Disease
p.ALA76ASP
HEMOGLOBIN J (CHICAGO)
OMIM
141900.0209
Disease
p.ALA86ASP
HEMOGLOBIN OLOMOUC
OMIM
141900.0141
Disease
p.ALA129GLU
HEMOGLOBIN K (CAMEROON)
OMIM
141900.0442
Disease
p.ALA135GLU
HEMOGLOBIN BECKMAN
OMIM
141900.0167
Disease
p.ALA115PRO
HEMOGLOBIN MADRID
OMIM
141900.0500
Disease
p.ALA128PRO
HEMOGLOBIN MONT SAINT-AIGNAN
OMIM
141900.0058
Disease
p.ALA129PRO
HEMOGLOBIN CRETE
OMIM
141900.0007
Disease
p.ALA135PRO
HEMOGLOBIN ALTDORF
OMIM
141900.0032
Disease
p.ALA138PRO
HEMOGLOBIN BROCKTON
OMIM
141900.0286
Disease
p.ALA142PRO
HEMOGLOBIN TOYOAKE
OMIM
141900.0070
Disease
p.ALA62PRO
HEMOGLOBIN DUARTE
OMIM
141900.0396
Disease
p.ALA76PRO
HEMOGLOBIN CALAIS
OMIM
141900.0223
141900.0522
Disease
p.ALA86PRO
HEMOGLOBIN CARDARELLI
OMIM
141900.0149
Disease
p.ALA27SER
HEMOGLOBIN KNOSSOS||BETA-PLUS-THALASSEMIA;;||BETA-KNOSSOS-THALASSEMIA
OMIM
141900.0517
Disease
p.ALA138THR
HEMOGLOBIN BUZEN
OMIM
141900.0249
Disease
p.ALA140THR
HEMOGLOBIN SAINT JACQUES
OMIM
141900.0483
Disease
p.ALA10VAL
HEMOGLOBIN IRAQ-HALABJA
OMIM
141900.0499
Disease
p.ALA128VAL
HEMOGLOBIN SITIA
OMIM
141900.0154
Disease
p.ALA129VAL
HEMOGLOBIN LA DESIRADE
OMIM
141900.0457
Disease
p.ALA140VAL
HEMOGLOBIN PUTTELANGE
OMIM
141900.0247
Disease
p.ALA142VAL
HEMOGLOBIN S (TRAVIS)
OMIM
141900.0094
Disease
p.ALA27VAL
HEMOGLOBIN GRANGE-BLANCHE
OMIM
141900.0536
Disease
p.ALA70VAL
HEMOGLOBIN MARINEO
OMIM
141900.0011
Disease
p.ARG40LYS
HEMOGLOBIN ATHENS-GEORGIA||HEMOGLOBIN WACO
OMIM
141900.0042
141900.0427
141900.0467
Disease
p.ARG104SER
HB CAMPERDOWN
OMIM
141900.0278
Disease
p.ARG30SER
HEMOGLOBIN TACOMA||HEINZ BODY HEMOLYTIC ANEMIA
OMIM
141900.0014
Disease
p.ARG40SER
HEMOGLOBIN AUSTIN
OMIM
141900.0261
Disease
p.ARG104THR
HEMOGLOBIN SHERWOOD FOREST
OMIM
141900.0144
Disease
p.ARG30THR
HEMOGLOBIN KAIROUAN||HEMOGLOBIN MONROE
OMIM
141900.0306
Disease
p.ASN108ASP
HEMOGLOBIN YOSHIZUKA
OMIM
141900.0092
Disease
p.ASN139ASP
HEMOGLOBIN GEELONG||HEMOGLOBIN JINAN
OMIM
141900.0005
Disease
p.ASN19ASP
HEMOGLOBIN ALAMO
OMIM
141900.0129
Disease
p.ASN57ASP
HEMOGLOBIN J (DALOA)
OMIM
141900.0236
Disease
p.ASN102LYS
HEMOGLOBIN RICHMOND
OMIM
141900.0226
Disease
p.ASN108LYS
HEMOGLOBIN PRESBYTERIAN
OMIM
141900.0108
Disease
p.ASN139LYS
HEMOGLOBIN HINSDALE
OMIM
141900.0064
Disease
p.ASN19LYS
HEMOGLOBIN D (OULED RABAH)
OMIM
141900.0082
Disease
p.ASN57LYS
HEMOGLOBIN G (FERRARA)
OMIM
141900.0087
Disease
p.ASN80LYS
HEMOGLOBIN G (SZUHU)||HEMOGLOBIN GIFU
OMIM
141900.0021
Disease
p.ASN102SER
HEMOGLOBIN BETH ISRAEL
OMIM
141900.0168
Disease
p.ASN19SER
HEMOGLOBIN MALAY||BETA-PLUS-THALASSEMIA;;||BETA-MALAY-THALASSEMIA
OMIM
141900.0145
Disease
p.ASN102THR
HEMOGLOBIN KANSAS||HEMOGLOBIN REISSMANN ET AL.
OMIM
141900.0485
Disease
p.ASN139THR
HEMOGLOBIN SAGAMI
OMIM
141900.0269
Disease
p.ASN102TYR
HEMOGLOBIN ST. MANDE
OMIM
141900.0459
Disease
p.ASN139TYR
HEMOGLOBIN AURORA
OMIM
141900.0015
Disease
p.ASP47ALA
HEMOGLOBIN AVICENNA
OMIM
141900.0203
Disease
p.ASP52ALA
HEMOGLOBIN OCHO RIOS
OMIM
141900.0230
Disease
p.ASP99ALA
HEMOGLOBIN RADCLIFFE
OMIM
141900.0052
Disease
p.ASP21ASN
HEMOGLOBIN COCODY
OMIM
141900.0080
Disease
p.ASP47ASN
HEMOGLOBIN G (COPENHAGEN)
OMIM
141900.0212
141900.0408
Disease
p.ASP52ASN
HEMOGLOBIN GRENOBLE
OMIM
141900.0039
141900.0153
Disease
p.ASP73ASN
HEMOGLOBIN KORLE-BU
OMIM
141900.0079
141900.0453
Disease
p.ASP79ASN
HEMOGLOBIN YAIZU
OMIM
141900.0035
Disease
p.ASP94ASN
HEMOGLOBIN BUNBURY
OMIM
141900.0146
Disease
p.ASP99ASN
HEMOGLOBIN KEMPSEY
OMIM
141900.0405
Disease
p.ASP99GLU
HEMOGLOBIN COIMBRA
OMIM
141900.0054
Disease
p.ASP21GLY
HEMOGLOBIN CONNECTICUT
OMIM
141900.0091
Disease
p.ASP47GLY
HEMOGLOBIN GAVELLO
OMIM
141900.0531
Disease
p.ASP52GLY
HEMOGLOBIN HOKUSETSU
OMIM
141900.0283
Disease
p.ASP73GLY
HEMOGLOBIN TILBURG
OMIM
141900.0084
Disease
p.ASP79GLY
HEMOGLOBIN G (HSI-TSOU)
OMIM
141900.0045
Disease
p.ASP94GLY
HEMOGLOBIN CHANDIGARH
OMIM
141900.0114
Disease
p.ASP99GLY
HEMOGLOBIN HOTEL-DIEU
OMIM
141900.0431
Disease
p.ASP21HIS
HEMOGLOBIN KARLSKOGA
OMIM
141900.0272
Disease
p.ASP52HIS
HEMOGLOBIN SUMMER HILL
OMIM
141900.0433
Disease
p.ASP79HIS
HEMOGLOBIN TIGRAYE
OMIM
141900.0016
Disease
p.ASP94HIS
HEMOGLOBIN BARCELONA
OMIM
141900.0301
Disease
p.ASP99HIS
HEMOGLOBIN YAKIMA
OMIM
141900.0309
Disease
p.ASP21TYR
HEMOGLOBIN YUSA
OMIM
141900.0170
Disease
p.ASP47TYR
HEMOGLOBIN MAPUTO
OMIM
141900.0291
Disease
p.ASP73TYR
HEMOGLOBIN VANCOUVER
OMIM
141900.0281
Disease
p.ASP79TYR
HEMOGLOBIN TAMPA
OMIM
141900.0535
Disease
p.ASP94TYR
HEMOGLOBIN GELDROP ST. ANNA
OMIM
141900.0307
Disease
p.ASP99TYR
HEMOGLOBIN YPSILANTI
OMIM
141900.0183
Disease
p.ASP73VAL
HEMOGLOBIN MOBILE
OMIM
141900.0046
Disease
p.ASP99VAL
HEMOGLOBIN CHEMILLY
OMIM
141900.0117
Disease
p.CYS112ARG
HEMOGLOBIN INDIANAPOLIS||HEINZ BODY HEMOLYTIC ANEMIA
OMIM
141900.0207
141900.0407
Disease
p.CYS93ARG
HEMOGLOBIN CLEVELAND
OMIM
141900.0506
Disease
p.CYS112PHE
HEMOGLOBIN CANTERBURY
OMIM
141900.0413
Disease
p.CYS112TYR
HEMOGLOBIN YAHATA
OMIM
141900.0369
Disease
p.GGT24GGA
BETA-PLUS-THALASSEMIA
OMIM
141900.0448
Disease
p.GLN127ARG
HEMOGLOBIN DIEPPE
OMIM
141900.0435
Disease
p.GLN131ARG
HEMOGLOBIN SARREBOURG
OMIM
141900.0282
Disease
p.GLN39ARG
HEMOGLOBIN TIANSHUI
OMIM
141900.0096
Disease
p.GLN127GLU
HEMOGLOBIN HACETTEPE||HEMOGLOBIN COMPLUTENSE
OMIM
141900.0041
Disease
p.GLN131GLU
HEMOGLOBIN CAMDEN||HEMOGLOBIN MOTOWN;;||HEMOGLOBIN TOKUCHI
OMIM
141900.0290
Disease
p.GLN39GLU
HEMOGLOBIN VAASA
OMIM
141900.0476
Disease
p.GLN131HIS
HEMOGLOBIN SILVER SPRINGS
OMIM
141900.0027
Disease
p.GLN127LYS
HEMOGLOBIN BREST
OMIM
141900.0259
Disease
p.GLN131LYS
HEMOGLOBIN SHELBY||HEMOGLOBIN LESLIE;;||HEMOGLOBIN DEACONESS
OMIM
141900.0004
Disease
p.GLN39LYS
HEMOGLOBIN ALABAMA
OMIM
141900.0319
Disease
p.GLN127PRO
HEMOGLOBIN HOUSTON||BETA-PLUS-THALASSEMIA, DOMINANT;;||BETA-HOUSTON-THALASSEMIA
OMIM
141900.0258
Disease
p.GLN131PRO
HEMOGLOBIN SHANGHAI
OMIM
141900.0312
Disease
p.GLN39TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0445
Disease
p.GLU121ALA
HEMOGLOBIN D (NEATH)
OMIM
141900.0081
Disease
p.GLU22ALA
HEMOGLOBIN G (COUSHATTA)||HEMOGLOBIN G (SASKATOON);;||HEMOGLOBIN G (HSIN-CHU);;||HEMOGLOBIN G (TAEGU)
OMIM
141900.0525
Disease
p.GLU26ALA
HEMOGLOBIN TRIPOLI
OMIM
141900.0083
Disease
p.GLU43ALA
HEMOGLOBIN G (GALVESTON)||HEMOGLOBIN G (PORT ARTHUR);;||HEMOGLOBIN G (TEXAS)
OMIM
141900.0085
Disease
p.GLU6ALA
HEMOGLOBIN G (MAKASSAR)
OMIM
141900.0225
Disease
p.GLU101ASP
HEMOGLOBIN POTOMAC
OMIM
141900.0221
Disease
p.GLU90ASP
HEMOGLOBIN PIERRE-BENITE
OMIM
141900.0242
Disease
p.GLU101GLN
HEMOGLOBIN RUSH
OMIM
141900.0065
141900.0276
141900.0407
141900.0502
Disease
p.GLU121GLN
HEMOGLOBIN D (AGRI)
OMIM
141900.0063
Disease
p.GLU22GLN
HEMOGLOBIN D (IRAN)
OMIM
141900.0113
Disease
p.GLU43GLN
HEMOGLOBIN HOSHIDA||HEMOGLOBIN CHAYA
OMIM
141900.0166
Disease
p.GLU6GLN
HEMOGLOBIN MACHIDA
OMIM
141900.0006
Disease
p.GLU101GLY
HEMOGLOBIN ALBERTA
OMIM
141900.0412
Disease
p.GLU121GLY
HEMOGLOBIN ST. FRANCIS
OMIM
141900.0088
Disease
p.GLU22GLY
HEMOGLOBIN G (TAIPEI)
OMIM
141900.0466
Disease
p.GLU26GLY
HB AUBENAS
OMIM
141900.0086
Disease
p.GLU7GLY
HEMOGLOBIN G (SAN JOSE)
OMIM
141900.0240
Disease
p.GLU90GLY
HEMOGLOBIN ROSEAU-POINTE A PITRE
OMIM
141900.0031
Disease
p.GLU101LYS
HEMOGLOBIN BRITISH COLUMBIA
OMIM
141900.0202
141900.0245
Disease
p.GLU121LYS
HEMOGLOBIN S (OMAN)||HEMOGLOBIN S/O (ARAB)
OMIM
141900.0072
Disease
p.GLU22LYS
HEMOGLOBIN E (SASKATOON)
OMIM
141900.0071
141900.0276
Disease
p.GLU26LYS
HEMOGLOBIN T (CAMBODIA)
OMIM
141900.0010
141900.0038
Disease
p.GLU6LYS
HEMOGLOBIN C||MALARIA, RESISTANCE TO, INCLUDED
OMIM
141900.0263
Disease
p.GLU7LYS
HEMOGLOBIN SIRIRAJ||HEMOGLOBIN G (HONAN)
OMIM
141900.0003
141900.0521
Disease
p.GLU90LYS
HEMOGLOBIN S (CAMEROON)
OMIM
141900.0314
Disease
p.GLU121TER
BETA-THALASSEMIA, DOMINANT INCLUSION BODY TYPE
OMIM
141900.0316
Disease
p.GLU43TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0415
Disease
p.GLU90TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0020
Disease
p.GLU121VAL
HEMOGLOBIN BEOGRAD||HEMOGLOBIN D (CAMPERDOWN)
OMIM
141900.0061
Disease
p.GLU22VAL
HEMOGLOBIN D (GRANADA)
OMIM
141900.0104
Disease
p.GLU26VAL
HEMOGLOBIN HENRI MONDOR
OMIM
141900.0039
141900.0040
141900.0243
141900.0244
141900.0245
141900.0246
141900.0247
141900.0521
141900.0523
Disease
p.GLU6VAL
HEMOGLOBIN JAMAICA PLAIN
OMIM
141900.0394
Disease
p.GLY119ALA
HEMOGLOBIN IOWA
OMIM
141900.0512
Disease
p.GLY64ALA
HEMOGLOBIN AUBAGNE
OMIM
141900.0036
Disease
p.GLY107ARG
HEMOGLOBIN BURKE
OMIM
141900.0501
Disease
p.GLY136ARG
HEMOGLOBIN 'T LANGE LAND
OMIM
141900.0060
Disease
p.GLY16ARG
HEMOGLOBIN D (BUSHMAN)
OMIM
141900.0238
Disease
p.GLY24ARG
HEMOGLOBIN RIVERDALE-BRONX
OMIM
141900.0089
Disease
p.GLY25ARG
HEMOGLOBIN G (TAIWAN-AMI)
OMIM
141900.0090
Disease
p.GLY46ARG
HEMOGLOBIN GAINESVILLE-GA
OMIM
141900.0098
141900.0223
Disease
p.GLY56ARG
HEMOGLOBIN POISSY
OMIM
141900.0147
Disease
p.GLY69ARG
HEMOGLOBIN KENITRA
OMIM
141900.0001
Disease
p.GLY74ARG
HEMOGLOBIN AALBORG
OMIM
141900.0432
Disease
p.GLY83ARG
HEMOGLOBIN MUSKEGON
OMIM
141900.0075
141900.0172
Disease
p.GLY119ASP
HEMOGLOBIN MASUDA
OMIM
141900.0112
Disease
p.GLY136ASP
HEMOGLOBIN HOPE
OMIM
141900.0123
Disease
p.GLY16ASP
HEMOGLOBIN J (BALTIMORE)||HEMOGLOBIN J (IRELAND);;||HEMOGLOBIN J (TRINIDAD);;||HEMOGLOBIN J (GEORGIA);;||HEMOGLOBIN N (N
OMIM
141900.0185
Disease
p.GLY24ASP
HEMOGLOBIN MOSCVA
OMIM
141900.0122
Disease
p.GLY25ASP
HEMOGLOBIN J (AUCKLAND)
OMIM
141900.0161
Disease
p.GLY29ASP
HEMOGLOBIN LUFKIN
OMIM
141900.0124
Disease
p.GLY56ASP
HEMOGLOBIN J (BANGKOK)||HEMOGLOBIN J (KORAT);;||HEMOGLOBIN J (MANADO);;||HEMOGLOBIN J (MEINUNG)
OMIM
141900.0126
Disease
p.GLY64ASP
HEMOGLOBIN J (CALABRIA)||HEMOGLOBIN J (COSENZA);;||HEMOGLOBIN J (BARI)
OMIM
141900.0136
Disease
p.GLY69ASP
HEMOGLOBIN J (RAMBAM)||HEMOGLOBIN J (CAMBRIDGE)
OMIM
141900.0260
Disease
p.GLY74ASP
HEMOGLOBIN SHEPHERDS BUSH
OMIM
141900.0228
Disease
p.GLY83ASP
HEMOGLOBIN PYRGOS
OMIM
141900.0277
Disease
p.GLY83CYS
HEMOGLOBIN TA-LI
OMIM
141900.0142
Disease
p.GLY46GLU
HEMOGLOBIN K (IBADAN)
OMIM
141900.0369
Disease
p.GLY24GLY
BETA-PLUS-THALASSEMIA
OMIM
141900.0526
Disease
p.GLY29SER
HEMOGLOBIN TIZI-OUZOU
OMIM
141900.0050
Disease
p.GLY69SER
HEMOGLOBIN CITY OF HOPE
OMIM
141900.0026
Disease
p.GLY119VAL
HEMOGLOBIN BOUGARDIREY-MALI
OMIM
141900.0254
Disease
p.GLY24VAL
HEMOGLOBIN SAVANNAH
OMIM
141900.0037
Disease
p.GLY74VAL
HEMOGLOBIN BUSHWICK
OMIM
141900.0213
Disease
p.HIS117ARG
HEMOGLOBIN P||HEMOGLOBIN P (GALVESTON)
OMIM
141900.0002
Disease
p.HIS143ARG
HEMOGLOBIN ABRUZZO
OMIM
141900.0051
Disease
p.HIS146ARG
HEMOGLOBIN COCHIN-PORT ROYAL
OMIM
141900.0066
Disease
p.HIS2ARG
HEMOGLOBIN DEER LODGE
OMIM
141900.0310
Disease
p.HIS63ARG
HEMOGLOBIN ZURICH
OMIM
141900.0469
Disease
p.HIS77ARG
HEMOGLOBIN COSTA RICA
OMIM
141900.0186
Disease
p.HIS92ARG
HEMOGLOBIN MOZHAISK
OMIM
141900.0518
Disease
p.HIS97ASN
HEMOGLOBIN SANTA CLARA
OMIM
141900.0414
Disease
p.HIS143ASP
HEMOGLOBIN RANCHO MIRAGE
OMIM
141900.0110
Disease
p.HIS146ASP
HEMOGLOBIN HIROSHIMA
OMIM
141900.0131
Disease
p.HIS77ASP
HEMOGLOBIN J (IRAN)
OMIM
141900.0119
Disease
p.HIS92ASP
HEMOGLOBIN J (ALTGELD GARDENS)
OMIM
141900.0097
Disease
p.HIS116GLN
HEMOGLOBIN HAFNIA
OMIM
141900.0159
Disease
p.HIS143GLN
HEMOGLOBIN LITTLE ROCK
OMIM
141900.0409
141900.0510
Disease
p.HIS146GLN
HEMOGLOBIN KODAIRA II
OMIM
141900.0206
Disease
p.HIS2GLN
HEMOGLOBIN OKAYAMA
OMIM
141900.0118
Disease
p.HIS92GLN
HEMOGLOBIN ISTANBUL||HEMOGLOBIN SAINT ETIENNE
OMIM
141900.0169
Disease
p.HIS97GLN
HEMOGLOBIN MALMO
OMIM
141900.0056
Disease
p.HIS146LEU
HEMOGLOBIN COWTOWN
OMIM
141900.0429
Disease
p.HIS2LEU
HEMOGLOBIN GRAZ
OMIM
141900.0300
Disease
p.HIS97LEU
HEMOGLOBIN WOOD
OMIM
141900.0250
Disease
p.HIS117PRO
HEMOGLOBIN SAITAMA
OMIM
141900.0275
Disease
p.HIS143PRO
HEMOGLOBIN SYRACUSE
OMIM
141900.0305
Disease
p.HIS146PRO
HEMOGLOBIN YORK
OMIM
141900.0023
Disease
p.HIS63PRO
HEMOGLOBIN BICETRE
OMIM
141900.0197
141900.0427
Disease
p.HIS92PRO
HEMOGLOBIN DUINO
OMIM
141900.0193
Disease
p.HIS97PRO
HEMOGLOBIN NAGOYA
OMIM
141900.0494
Disease
p.HIS117TYR
HEMOGLOBIN TSUKUMI
OMIM
141900.0477
Disease
p.HIS143TYR
HEMOGLOBIN BURTON-UPON-TRENT||HEMOGLOBIN OLD DOMINION
OMIM
141900.0489
Disease
p.HIS146TYR
HEMOGLOBIN BOLOGNA-ST. ORSOLA
OMIM
141900.0077
Disease
p.HIS2TYR
HEMOGLOBIN FUKUOKA
OMIM
141900.0165
Disease
p.HIS63TYR
HEMOGLOBIN M (SASKATOON)||HEMOGLOBIN M (ARHUS);;||HEMOGLOBIN M (CHICAGO);;||HEMOGLOBIN M (EMORY);;||HEMOGLOBIN M (ERLANG
OMIM
141900.0078
Disease
p.HIS77TYR
HEMOGLOBIN FUKUYAMA
OMIM
141900.0164
Disease
p.HIS92TYR
HEMOGLOBIN M (MILWAUKEE 2)||HEMOGLOBIN M (HYDE PARK);;||HEMOGLOBIN M (AKITA)
OMIM
141900.0184
Disease
p.HIS97TYR
HEMOGLOBIN MORIGUCHI
OMIM
141900.0044
Disease
p.LEU1ARG
HEMOGLOBIN CASTILLA
OMIM
141900.0398
Disease
p.LEU106ARG
HEMOGLOBIN TERRE HAUTE||BETA-PLUS-THALASSEMIA
OMIM
141900.0264
Disease
p.LEU14ARG
HEMOGLOBIN SOGN
OMIM
141900.0208
Disease
p.LEU141ARG
HEMOGLOBIN OLMSTED
OMIM
141900.0402
Disease
p.LEU28ARG
HEMOGLOBIN CHESTERFIELD
OMIM
141900.0455
Disease
p.LEU31ARG
HEMOGLOBIN HAKKARI
OMIM
141900.0205
Disease
p.LEU48ARG
HEMOGLOBIN OKALOOSA
OMIM
141900.0217
Disease
p.LEU75ARG
HEMOGLOBIN PASADENA
OMIM
141900.0229
Disease
p.LEU78ARG
HEMOGLOBIN QUIN-HAI
OMIM
141900.0017
Disease
p.LEU81ARG
HEMOGLOBIN BAYLOR
OMIM
141900.0025
Disease
p.LEU88ARG
HEMOGLOBIN BORAS
OMIM
141900.0043
Disease
p.LEU91ARG
HEMOGLOBIN CARIBBEAN
OMIM
141900.0452
Disease
p.LEU1GLN
HEMOGLOBIN MEDICINE LAKE
OMIM
141900.0287
Disease
p.LEU106GLN
HEMOGLOBIN TUBINGEN
OMIM
141900.0268
Disease
p.LEU28GLN
HEMOGLOBIN ST. LOUIS||HEINZ BODY HEMOLYTIC ANEMIA
OMIM
141900.0029
Disease
p.LEU68HIS
HEMOGLOBIN BRISBANE||HEMOGLOBIN GREAT LAKES
OMIM
141900.0482
Disease
p.LEU81HIS
HEMOGLOBIN LA ROCHE-SUR-YON
OMIM
141900.0172
141900.0397
Disease
p.LEU114MET
HEMOGLOBIN ZENGCHENG
OMIM
141900.0480
Disease
p.LEU28MET
HEMOGLOBIN CHILE
OMIM
141900.0391
Disease
p.LEU105PHE
HEMOGLOBIN SOUTH MILWAUKEE
OMIM
141900.0523
141900.0524
Disease
p.LEU68PHE
HEMOGLOBIN ROCKFORD
OMIM
141900.0218
Disease
p.LEU1PRO
HEMOGLOBIN PERTH||HEMOGLOBIN ABRAHAM LINCOLN;;||HEMOGLOBIN KOBE
OMIM
141900.0265
Disease
p.LEU106PRO
HEMOGLOBIN SOUTHAMPTON||HEMOGLOBIN CASPER
OMIM
141900.0262
Disease
p.LEU110PRO
HEMOGLOBIN SHOWA-YAKUSHIJI||BETA-PLUS-THALASSEMIA;;||BETA-SHOWA-YAKUSHIJI THALASSEMIA
OMIM
141900.0424
Disease
p.LEU114PRO
BETA-THALASSEMIA INTERMEDIA||HEMOGLOBIN BRESCIA;;||HEMOGLOBIN DURHAM-N.C.
OMIM
141900.0251
Disease
p.LEU14PRO
HEMOGLOBIN SAKI
OMIM
141900.0093
Disease
p.LEU28PRO
HEMOGLOBIN GENOVA||HEMOGLOBIN HYOGO
OMIM
141900.0304
Disease
p.LEU31PRO
HEMOGLOBIN YOKOHAMA
OMIM
141900.0421
Disease
p.LEU48PRO
HEMOGLOBIN BAB-SAADOUN
OMIM
141900.0181
Disease
p.LEU68PRO
HEMOGLOBIN MIZUHO
OMIM
141900.0012
Disease
p.LEU75PRO
HEMOGLOBIN ATLANTA
OMIM
141900.0253
Disease
p.LEU88PRO
HEMOGLOBIN SANTA ANA
OMIM
141900.0248
Disease
p.LEU91PRO
HEMOGLOBIN SABINE
OMIM
141900.0462
Disease
p.LEU96PRO
HEMOGLOBIN DEBROUSSE
OMIM
141900.0420
Disease
p.LEU1VAL
HEMOGLOBIN MUSCAT
OMIM
141900.0235
Disease
p.LEU96VAL
HEMOGLOBIN REGINA
OMIM
141900.0484
Disease
p.LYS8ARG
HEMOGLOBIN LUCKNOW
OMIM
141900.0239
Disease
p.LYS120ASN
HEMOGLOBIN RIYADH||HEMOGLOBIN KARATSU
OMIM
141900.0302
Disease
p.LYS132ASN
HEMOGLOBIN YAMAGATA
OMIM
141900.0008
Disease
p.LYS144ASN
HEMOGLOBIN ANDREW-MINNEAPOLIS
OMIM
141900.0120
Disease
p.LYS17ASN
HEMOGLOBIN J (AMIENS)
OMIM
141900.0134
Disease
p.LYS59ASN
HEMOGLOBIN J (LOME)
OMIM
141900.0106
Disease
p.LYS61ASN
HEMOGLOBIN HIKARI
OMIM
141900.0137
Disease
p.LYS65ASN
HEMOGLOBIN J (SICILIA)
OMIM
141900.0504
Disease
p.LYS8ASN
HEMOGLOBIN LIMASSOL
OMIM
141900.0067
Disease
p.LYS95ASN
HEMOGLOBIN DETROIT
OMIM
141900.0187
Disease
p.LYS95ASP
HEMOGLOBIN N, BETA TYPE
OMIM
141900.0227
141900.0246
Disease
p.LYS82ASX
HEMOGLOBIN S (PROVIDENCE)
OMIM
141900.0280
Disease
p.LYS120GLN
HEMOGLOBIN TAKAMATSU
OMIM
141900.0143
Disease
p.LYS132GLN
HEMOGLOBIN K (WOOLWICH)
OMIM
141900.0411
Disease
p.LYS17GLN
HEMOGLOBIN NIKOSIA
OMIM
141900.0514
Disease
p.LYS61GLN
HEMOGLOBIN POCOS DE CALDAS
OMIM
141900.0125
Disease
p.LYS65GLN
HEMOGLOBIN J (CAIRO)
OMIM
141900.0135
Disease
p.LYS8GLN
HEMOGLOBIN J (LUHE)
OMIM
141900.0464
Disease
p.LYS82GLN
HEMOGLOBIN TSURUMAI
OMIM
141900.0105
Disease
p.LYS120GLU
HEMOGLOBIN HIJIYAMA
OMIM
141900.0178
Disease
p.LYS144GLU
HEMOGLOBIN MITO
OMIM
141900.0192
Disease
p.LYS17GLU
HEMOGLOBIN NAGASAKI
OMIM
141900.0115
Disease
p.LYS59GLU
HEMOGLOBIN I (HIGH WYCOMBE)
OMIM
141900.0190
Disease
p.LYS61GLU
HEMOGLOBIN N (SEATTLE)
OMIM
141900.0116
Disease
p.LYS66GLU
HEMOGLOBIN I (TOULOUSE)||HEMOGLOBIN TOULOUSE
OMIM
141900.0191
Disease
p.LYS8GLU
HEMOGLOBIN N (TIMONE)
OMIM
141900.0473
Disease
p.LYS82GLU
HB GAMBARA
OMIM
141900.0010
141900.0188
Disease
p.LYS95GLU
HEMOGLOBIN N (BALTIMORE)||HEMOGLOBIN N (JENKINS);;||HEMOGLOBIN JENKINS;;||HEMOGLOBIN HOPKINS 1;;||HEMOGLOBIN KENWOOD
OMIM
141900.0189
Disease
p.LYS95GLX
HEMOGLOBIN N (MEMPHIS)
OMIM
141900.0139
Disease
p.LYS120ILE
HEMOGLOBIN JIANGHUA
OMIM
141900.0488
Disease
p.LYS144MET
HEMOGLOBIN BARBIZON
OMIM
141900.0024
Disease
p.LYS61MET
HEMOGLOBIN BOLOGNA
OMIM
141900.0121
141900.0493
Disease
p.LYS65MET
HEMOGLOBIN CASABLANCA
OMIM
141900.0460
Disease
p.LYS8MET
HEMOGLOBIN NAKANO
OMIM
141900.0103
Disease
p.LYS82MET
HEMOGLOBIN HELSINKI
OMIM
141900.0128
Disease
p.LYS95MET
HEMOGLOBIN J (CORDOBA)
OMIM
141900.0311
Disease
p.LYS17TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0317
Disease
p.LYS61TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0132
Disease
p.LYS59THR
HEMOGLOBIN J (KAOHSIUNG)||HEMOGLOBIN J (HONOLULU)
OMIM
141900.0048
Disease
p.LYS66THR
HEMOGLOBIN CHICO
OMIM
141900.0237
Disease
p.LYS8THR
HEMOGLOBIN RIO GRANDE
OMIM
141900.0231
Disease
p.LYS82THR
HEMOGLOBIN RAHERE
OMIM
141900.0173
Disease
p.MET55LYS
HEMOGLOBIN MATERA
OMIM
141900.0486
Disease
p.PHE118CYS
HEMOGLOBIN HARROW
OMIM
141900.0511
Disease
p.PHE41CYS
HEMOGLOBIN ILMENAU
OMIM
141900.0458
Disease
p.PHE45CYS
HEMOGLOBIN ARTA
OMIM
141900.0436
Disease
p.PHE103ILE
HEMOGLOBIN SAINT NAZAIRE
OMIM
141900.0102
Disease
p.PHE103LEU
HEMOGLOBIN HEATHROW
OMIM
141900.0492
141900.0493
Disease
p.PHE122LEU
HEMOGLOBIN CASABLANCA
OMIM
141900.0160
Disease
p.PHE42LEU
HEMOGLOBIN LOUISVILLE||HEMOGLOBIN BUCURESTI
OMIM
141900.0441
Disease
p.PHE41SER
HEMOGLOBIN DENVER
OMIM
141900.0100
Disease
p.PHE42SER
HEMOGLOBIN HAMMERSMITH||HEMOGLOBIN CHIBA;;||HEINZ BODY HEMOLYTIC ANEMIA
OMIM
141900.0047
Disease
p.PHE45SER
HEMOGLOBIN CHEVERLY
OMIM
141900.0049
Disease
p.PHE71SER
HEMOGLOBIN CHRISTCHURCH
OMIM
141900.0182
Disease
p.PHE83SER
HEMOGLOBIN MIZUNAMI
OMIM
141900.0034
Disease
p.PHE85SER
HEMOGLOBIN BRYN MAWR||HEMOGLOBIN BUENOS AIRES
OMIM
141900.0176
Disease
p.PHE118TYR
HEMOGLOBIN MINNEAPOLIS-LAOS
OMIM
141900.0174
Disease
p.PHE41TYR
HEMOGLOBIN MEQUON
OMIM
141900.0519
Disease
p.PHE103VAL
HEMOGLOBIN SPARTA
OMIM
141900.0257
Disease
p.PHE42VAL
HEMOGLOBIN SENDAGI||HEMOGLOBIN WARSAW
OMIM
141900.0487
Disease
p.PRO36ALA
HEMOGLOBIN BRIE COMTE ROBERT
OMIM
141900.0195
Disease
p.PRO100ARG
HEMOGLOBIN NEW MEXICO
OMIM
141900.0148
Disease
p.PRO124ARG
HEMOGLOBIN KHARTOUM
OMIM
141900.0273
Disease
p.PRO36ARG
HEMOGLOBIN SUNNYBROOK
OMIM
141900.0296
Disease
p.PRO5ARG
HEMOGLOBIN WARWICKSHIRE
OMIM
141900.0298
Disease
p.PRO51ARG
HEMOGLOBIN WILLAMETTE
OMIM
141900.0040
141900.0308
Disease
p.PRO58ARG
HEMOGLOBIN YUKUHASHI||HEMOGLOBIN DHOFAR
OMIM
141900.0289
Disease
p.PRO124GLN
HEMOGLOBIN TY GARD
OMIM
141900.0490
Disease
p.PRO36HIS
HEMOGLOBIN VILA REAL
OMIM
141900.0028
Disease
p.PRO100LEU
HEMOGLOBIN BRIGHAM
OMIM
141900.0481
Disease
p.PRO124LEU
HEMOGLOBIN TENDE
OMIM
141900.0288
Disease
p.PRO124SER
HEMOGLOBIN TUNIS
OMIM
141900.0199
Disease
p.PRO36SER
HEMOGLOBIN NORTH CHICAGO
OMIM
141900.0451
Disease
p.PRO5SER
HEMOGLOBIN TYNE
OMIM
141900.0408
Disease
p.PRO51SER
HEMOGLOBIN GRENOBLE
OMIM
141900.0158
Disease
p.PRO36THR
HEMOGLOBIN LINKOPING||HEMOGLOBIN MEILAHTI
OMIM
141900.0292
Disease
p.SER89ARG
HEMOGLOBIN VANDERBILT
OMIM
141900.0059
Disease
p.SER89ASN
HEMOGLOBIN CRETEIL
OMIM
141900.0177
Disease
p.SER44CYS
HEMOGLOBIN MISSISSIPPI||HEMOGLOBIN MS
OMIM
141900.0513
Disease
p.SER49CYS
HEMOGLOBIN COLIMA
OMIM
141900.0224
Disease
p.SER9CYS
HEMOGLOBIN PORTO ALEGRE
OMIM
141900.0155
Disease
p.SER49PHE
HEMOGLOBIN LAS PALMAS
OMIM
141900.0439
Disease
p.SER89THR
HEMOGLOBIN VILLAVERDE
OMIM
141900.0502
141900.0534
Disease
p.SER9TYR
HEMOGLOBIN BREM-SUR-MER
OMIM
141900.0491
Disease
p.THR84ALA
HEMOGLOBIN SAALE
OMIM
141900.0495
Disease
p.THR123ASN
HEMOGLOBIN ERNZ
OMIM
141900.0461
Disease
p.THR38ASN
HEMOGLOBIN HINWIL
OMIM
141900.0294
Disease
p.THR123ILE
HEMOGLOBIN VILLEJUIF
OMIM
141900.0537
Disease
p.THR38ILE
HEMOGLOBIN LA CORUNA
OMIM
141900.0150
Disease
p.THR84ILE
HEMOGLOBIN KOFU
OMIM
141900.0403
Disease
p.THR87ILE
HEMOGLOBIN QUEBEC-CHORI||HEMOGLOBIN CHORI
OMIM
141900.0073
Disease
p.THR50LYS
HEMOGLOBIN EDMONTON
OMIM
141900.0062
Disease
p.THR87LYS
HEMOGLOBIN D (IBADAN)
OMIM
141900.0101
Disease
p.THR38PRO
HEMOGLOBIN HAZEBROUCK
OMIM
141900.0400
Disease
p.THR87PRO
HEMOGLOBIN VALLETTA
OMIM
141900.0019
Disease
p.TRP15ARG
HEMOGLOBIN BELFAST
OMIM
141900.0241
Disease
p.TRP37ARG
HEMOGLOBIN ROTHSCHILD
OMIM
141900.0234
Disease
p.TRP15GLY
HEMOGLOBIN RANDWICK
OMIM
141900.0440
Disease
p.TRP37GLY
HEMOGLOBIN HOWICK
OMIM
141900.0109
Disease
p.TRP37SER
HEMOGLOBIN HIROSE
OMIM
141900.0313
Disease
p.TRP15TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0315
Disease
p.TRP37TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0297
Disease
p.TYR130ASP
HEMOGLOBIN WIEN
OMIM
141900.0232
Disease
p.TYR145CYS
HEMOGLOBIN RAINIER
OMIM
141900.0022
Disease
p.TYR145HIS
HEMOGLOBIN BETHESDA
OMIM
141900.0220
Disease
p.TYR35PHE
HEMOGLOBIN PHILLY
OMIM
141900.0194
Disease
p.TYR130SER
HEMOGLOBIN NEVERS
OMIM
141900.0175
Disease
p.TYR145TER
HEMOGLOBIN MCKEES ROCKS
OMIM
141900.0318
Disease
p.TYR35TER
BETA-ZERO-THALASSEMIA
OMIM
141900.0270
Disease
p.VAL111ALA
HEMOGLOBIN STANMORE
OMIM
141900.0018
Disease
p.VAL126ALA
HEMOGLOBIN BEIRUT
OMIM
141900.0496
Disease
p.VAL133ALA
HEMOGLOBIN RENERT
OMIM
141900.0498
Disease
p.VAL134ALA
HEMOGLOBIN YAOUNDE
OMIM
141900.0533
Disease
p.VAL23ALA
HEMOGLOBIN ZOETERWOUDE
OMIM
141900.0053
Disease
p.VAL60ALA
HEMOGLOBIN COLLINGWOOD
OMIM
141900.0274
Disease
p.VAL67ALA
HEMOGLOBIN SYDNEY
OMIM
141900.0068
Disease
p.VAL98ALA
HEMOGLOBIN DJELFA
OMIM
141900.0299
Disease
p.VAL11ASP
HEMOGLOBIN WINDSOR
OMIM
141900.0271
Disease
p.VAL23ASP
HEMOGLOBIN STRASBOURG
OMIM
141900.0516
Disease
p.VAL34ASP
HEMOGLOBIN SANTANDER
OMIM
141900.0401
Disease
p.VAL54ASP
HEMOGLOBIN JACKSONVILLE
OMIM
141900.0196
Disease
p.VAL113GLU
HEMOGLOBIN NEW YORK||HEMOGLOBIN KAOHSIUNG
OMIM
141900.0111
Disease
p.VAL126GLU
HEMOGLOBIN HOFU
OMIM
141900.0200
Disease
p.VAL134GLU
HEMOGLOBIN NORTH SHORE||HEMOGLOBIN NORTH SHORE-CARACAS
OMIM
141900.0450
Disease
p.VAL20GLU
HEMOGLOBIN TROLLHAETTAN
OMIM
141900.0321
Disease
p.VAL60GLU
BETA-PLUS-THALASSEMIA||HEMOGLOBIN CAGLIARI
OMIM
141900.0163
Disease
p.VAL67GLU
HEMOGLOBIN M (MILWAUKEE 1)
OMIM
141900.0393
Disease
p.VAL126GLY
HEMOGLOBIN DHONBURI||HEMOGLOBIN NEAPOLIS
OMIM
141900.0180
Disease
p.VAL23GLY
HEMOGLOBIN MIYASHIRO
OMIM
141900.0438
Disease
p.VAL67GLY
HEMOGLOBIN MANUKAU
OMIM
141900.0201
Disease
p.VAL98GLY
HEMOGLOBIN NOTTINGHAM
OMIM
141900.0099
Disease
p.VAL11ILE
HEMOGLOBIN HAMILTON
OMIM
141900.0244
Disease
p.VAL23ILE
HEMOGLOBIN S (ANTILLES)
OMIM
141900.0140
Disease
p.VAL109LEU
HEMOGLOBIN JOHNSTOWN
OMIM
141900.0075
Disease
p.VAL111LEU
HEMOGLOBIN FANNIN-LUBBOCK
OMIM
141900.0508
Disease
p.VAL126LEU
HEMOGLOBIN MOLFETTA
OMIM
141900.0074
Disease
p.VAL133LEU
HEMOGLOBIN EXTREMADURA
OMIM
141900.0303
Disease
p.VAL60LEU
HEMOGLOBIN YATSUSHIRO
OMIM
141900.0252
Disease
p.VAL109MET
HEMOGLOBIN SAN DIEGO
OMIM
141900.0428
Disease
p.VAL18MET
HEMOGLOBIN BADEN
OMIM
141900.0210
Disease
p.VAL20MET
HEMOGLOBIN OLYMPIA
OMIM
141900.0478
Disease
p.VAL34MET
HEMOGLOBIN RIO CLARO
OMIM
141900.0447
Disease
p.VAL67MET
HEMOGLOBIN ALESHA
OMIM
141900.0151
141900.0452
Disease
p.VAL98MET
HEMOGLOBIN MEDICINE LAKE
OMIM
141900.0446
Disease
p.VAL11PHE
HEMOGLOBIN WASHTENAW
OMIM
141900.0219
Disease
p.VAL111PHE
HEMOGLOBIN PETERBOROUGH
OMIM
141900.0216
Disease
p.VAL23PHE
HEMOGLOBIN PALMERSTON NORTH
OMIM
141900.0222
Disease
p.VAL34PHE
HEMOGLOBIN PITIE-SALPETRIERE
Please Cite:
Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.
DMDM_info@umbc.edu
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