Mutations on the Protein

Mutations on the Protein: P69905 From Positions: 43 To 50

25 10	0 15

Swiss-Prot Polymorphism: VAR_002763

p.ASP48ALA N/A		N/A VAR_002763
N/A

Swiss-Prot Polymorphism: VAR_002764

p.ASP48GLY N/A		N/A VAR_002764
N/A

Swiss-Prot Polymorphism: VAR_002765

p.ASP48HIS N/A		N/A VAR_002765
N/A

Swiss-Prot Polymorphism: VAR_002766

p.ASP48TYR N/A		N/A VAR_002766
N/A

Swiss-Prot Polymorphism: VAR_002762

p.HIS46ARG N/A		N/A VAR_002762
N/A

Swiss-Prot Polymorphism: VAR_002761

p.HIS46GLN N/A		N/A VAR_002761
N/A

Swiss-Prot Polymorphism: VAR_002767

p.LEU49ARG N/A		N/A VAR_002767
N/A

Swiss-Prot Polymorphism: VAR_002758

p.PHE44LEU N/A		N/A VAR_002758
N/A

Swiss-Prot Polymorphism: VAR_002760

p.PRO45ARG N/A		N/A VAR_002760
N/A

Swiss-Prot Polymorphism: VAR_002759

p.PRO45LEU N/A		N/A VAR_002759
N/A

OMIM Disease: 141800.0023

p.ASP47ALA N/A		141800.0023 N/A
HEMOGLOBIN CORDELE

OMIM Disease: 141800.0005

p.ASP47ASN N/A		141800.0005 N/A
HEMOGLOBIN ARYA

OMIM Disease: 141800.0084

p.ASP47GLY N/A		141800.0084 N/A
HEMOGLOBIN KOKURA\|\|HEMOGLOBIN BEILINSON;;\|\|HEMOGLOBIN MICHIGAN-I;;\|\|HEMOGLOBIN MICHIGAN-II;;\|\|HEMOGLOBIN L (GASLINI);;\|\|

OMIM Disease: 141800.0034

p.HIS45ARG N/A		141800.0034 N/A
HEMOGLOBIN FORT DE FRANCE

OMIM Disease: 141800.0176

p.HIS45ASP N/A		141800.0176 N/A
HEMOGLOBIN POITIERS

OMIM Disease: 141800.0009

p.HIS45GLN N/A		141800.0009 N/A
HEMOGLOBIN BARI

OMIM Disease: 141800.0201

p.HIS45PRO N/A		141800.0201 N/A
HEMOGLOBIN OITA

OMIM Disease: 141800.0052

p.PHE43LEU N/A		141800.0052 N/A
HEMOGLOBIN HIROSAKI

OMIM Disease: 141800.0150

p.PHE43VAL N/A		141800.0150 N/A
HEMOGLOBIN TORINO

OMIM Disease: 141800.0082

p.PRO44ARG N/A		141800.0082 N/A
HEMOGLOBIN KAWACHI

OMIM Disease: 141800.0098

p.PRO44LEU N/A		141800.0098 N/A
HEMOGLOBIN MILLEDGEVILLE

OMIM Disease: 141800.0127

p.SER49ARG N/A		141800.0127 N/A
HEMOGLOBIN SAVARIA

OMIM Disease: 141850.0012

p.ASP47HIS N/A		141850.0012 N/A
HEMOGLOBIN L (FERRARA)\|\|HEMOGLOBIN HASHARON;;\|\|HEMOGLOBIN SINAI;;\|\|HEMOGLOBIN SEALY

OMIM Disease: 141850.0025

p.ASP47TYR N/A		141850.0025 N/A
HEMOGLOBIN KURDISTAN

OMIM Disease: 141850.0013

p.LEU48ARG N/A		141850.0013 N/A
HEMOGLOBIN MONTGOMERY\|\|HEMOGLOBIN BIRMINGHAM (USA)

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.

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