Results for the protein: P69892

Results for the Protein: P69892

56749861

3048

HBG2

NCBI, UniProt

HBG2_HUMAN RecName: Full=Hemoglobin subunit gamma-2; AltName: Full=Gamma-2-globin; AltName: Full=Hb F Ggamma; AltName: Full=Hemoglobin gamma-2 chain; AltName: Full=Hemoglobin gamma-G chain

Known Diseases associated with this Protein:
  CYANOSIS TRANSIENT NEONATAL (TNCY)
  CYANOSIS, TRANSIENT NEONATAL
  CYANOSIS, TRANSIENT NEONATEL
  HEMOGLOBIN F (ALBAICIN)
  HEMOGLOBIN F (AUCKLAND)
  HEMOGLOBIN F (AUSTELL)
  HEMOGLOBIN F (BROOKLYN)
  HEMOGLOBIN F (CALABRIA)
  HEMOGLOBIN F (CALTECH)
  HEMOGLOBIN F (CARLTON)
  HEMOGLOBIN F (CATALONIA)
  HEMOGLOBIN F (CLAMART)
  HEMOGLOBIN F (CLARKE)
  HEMOGLOBIN F (COLUMBUS-GA)
  HEMOGLOBIN F (COSENZA)
  HEMOGLOBIN F (EMIRATES)
  HEMOGLOBIN F (FUCHU)
  HEMOGLOBIN F (GRANADA)
  HEMOGLOBIN F (KENNESTONE)
  HEMOGLOBIN F (KINGSTON)
  HEMOGLOBIN F (LA GRANGE)
  HEMOGLOBIN F (LESVOS)
  HEMOGLOBIN F (LODZ)
  HEMOGLOBIN F (MACEDONIA II)
  HEMOGLOBIN F (MALTA)
  HEMOGLOBIN F (MARIETTA)
  HEMOGLOBIN F (MEINOHAMA)
  HEMOGLOBIN F (MELBOURNE)
  HEMOGLOBIN F (MINOO)
  HEMOGLOBIN F (OAKLAND)
  HEMOGLOBIN F (ONODA)
  HEMOGLOBIN F (OULED RABAH)
  HEMOGLOBIN F (POOLE)
  HEMOGLOBIN F (PORT ROYAL)
  HEMOGLOBIN F (SACROMONTE)
  HEMOGLOBIN F (SHANGHAI)
  HEMOGLOBIN F (TOKYO)
  HEMOGLOBIN F (URUMQI)
  HEMOGLOBIN F (VELETA)

46

43

41

0

48

Tips:

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Default View: globin - cd01040 Globin - pfam00042	Swiss-Prot Protein: P69892 Identical to: NP_000175 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Globin	pfam00042	7.4e-46	8	112

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_003144	Polymorphism	p.ARG41GLY	N/A
Swiss-Prot	VAR_020649	Polymorphism	p.ARG41LYS	N/A
Swiss-Prot	VAR_020647	Polymorphism	p.ASN20LYS	N/A
Swiss-Prot	VAR_003129	Polymorphism	p.ASP8ASN	N/A
Swiss-Prot	VAR_020652	Polymorphism	p.ASP81ASN	N/A
Swiss-Prot	VAR_003167	Polymorphism	p.ASP95ASN	N/A
Swiss-Prot	VAR_020648	Polymorphism	p.ASP23GLY	N/A
Swiss-Prot	VAR_003136	Polymorphism	p.ASP23VAL	N/A
Swiss-Prot	VAR_003174	Polymorphism	p.GLU126ALA	N/A
Swiss-Prot	VAR_003134	Polymorphism	p.GLU22GLN	N/A
Swiss-Prot	VAR_003126	Polymorphism	p.GLU6GLY	N/A
Swiss-Prot	VAR_003169	Polymorphism	p.GLU102LYS	N/A
Swiss-Prot	VAR_020653	Polymorphism	p.GLU122LYS	N/A
Swiss-Prot	VAR_003133	Polymorphism	p.GLU22LYS	N/A
Swiss-Prot	VAR_003139	Polymorphism	p.GLU27LYS	N/A
Swiss-Prot	VAR_003132	Polymorphism	p.GLY17ARG	N/A
Swiss-Prot	VAR_020650	Polymorphism	p.GLY73ARG	N/A
Swiss-Prot	VAR_003123	Polymorphism	p.GLY2CYS	N/A
Swiss-Prot	VAR_003137	Polymorphism	p.GLY26GLU	N/A
Swiss-Prot	VAR_003171	Polymorphism	p.HIS118ARG	N/A
Swiss-Prot	VAR_003162	Polymorphism	p.HIS78ARG	N/A
Swiss-Prot	VAR_025336	Disease	p.HIS64LEU	Cyanosis transient neonatal (TNCY)
Swiss-Prot	VAR_003179	Polymorphism	p.HIS147TYR	N/A
Swiss-Prot	VAR_003154	Disease	p.HIS64TYR	Cyanosis transient neonatal (TNCY)
Swiss-Prot	VAR_003166	Disease	p.HIS93TYR	Cyanosis transient neonatal (TNCY)
Swiss-Prot	VAR_020651	Polymorphism	p.ILE76THR	N/A
Swiss-Prot	VAR_030498	Polymorphism	p.ILE76VAL	N/A
Swiss-Prot	VAR_003156	Polymorphism	p.LYS67ARG	N/A
Swiss-Prot	VAR_003170	Polymorphism	p.LYS105ASN	N/A
Swiss-Prot	VAR_020646	Polymorphism	p.LYS18ASN	N/A
Swiss-Prot	VAR_003155	Polymorphism	p.LYS66ASN	N/A
Swiss-Prot	VAR_003172	Polymorphism	p.LYS121GLN	N/A
Swiss-Prot	VAR_003152	Polymorphism	p.LYS60GLN	N/A
Swiss-Prot	VAR_003157	Polymorphism	p.LYS67GLN	N/A
Swiss-Prot	VAR_020644	Polymorphism	p.LYS9GLN	N/A
Swiss-Prot	VAR_003151	Polymorphism	p.LYS60GLU	N/A
Swiss-Prot	VAR_020643	Polymorphism	p.LYS9GLU	N/A
Swiss-Prot	VAR_003150	Polymorphism	p.MET56ARG	N/A
Swiss-Prot	VAR_015740	Polymorphism	p.PHE119LEU	N/A
Swiss-Prot	VAR_003146	Disease	p.PHE42SER	Cyanosis transient neonatal (TNCY)
Swiss-Prot	VAR_003148	Polymorphism	p.SER45ARG	N/A
Swiss-Prot	VAR_020645	Polymorphism	p.THR13ARG	N/A
Swiss-Prot	VAR_030497	Polymorphism	p.THR39PRO	N/A
Swiss-Prot	VAR_003131	Polymorphism	p.TRP16ARG	N/A
Swiss-Prot	VAR_003176	Polymorphism	p.TRP131GLY	N/A
Swiss-Prot	VAR_030496	Polymorphism	p.VAL21ALA	N/A
Swiss-Prot	VAR_003140	Polymorphism	p.VAL35ILE	N/A
Swiss-Prot	VAR_065950	Disease	p.VAL68MET	Cyanosis transient neonatal (TNCY)
OMIM	142250.0044	Disease	p.ARG40GLY	HEMOGLOBIN F (VELETA)
OMIM	142250.0030	Disease	p.ARG40LYS	HEMOGLOBIN F (AUSTELL)
OMIM	142250.0049	Disease	p.ASN19LYS	HEMOGLOBIN F (OULED RABAH)
OMIM	142250.0002	Disease	p.ASP7ASN	HEMOGLOBIN F (AUCKLAND)
OMIM	142250.0015	Disease	p.ASP80ASN	HEMOGLOBIN F (MARIETTA)
OMIM	142250.0006	Disease	p.ASP94ASN	HEMOGLOBIN F (COLUMBUS-GA)
OMIM	142250.0024	Disease	p.ASP22GLY	HEMOGLOBIN F (URUMQI)
OMIM	142250.0029	Disease	p.ASP22VAL	HEMOGLOBIN F (GRANADA)
OMIM	142250.0021	Disease	p.GLU125ALA	HEMOGLOBIN F (PORT ROYAL)
OMIM	142250.0007	Disease	p.GLU21GLN	HEMOGLOBIN F (FUCHU)
OMIM	142250.0016	Disease	p.GLU5GLY	HEMOGLOBIN F (MEINOHAMA)
OMIM	142250.0011	Disease	p.GLU101LYS	HEMOGLOBIN F (LA GRANGE)
OMIM	142250.0004	Disease	p.GLU121LYS	HEMOGLOBIN F (CARLTON)
OMIM	142250.0019	Disease	p.GLU26LYS	HEMOGLOBIN F (OAKLAND)
OMIM	142250.0017	Disease	p.GLY16ARG	HEMOGLOBIN F (MELBOURNE)
OMIM	142250.0018	Disease	p.GLY72ARG	HEMOGLOBIN F (MINOO)
OMIM	142250.0037	Disease	p.GLY25GLU	HEMOGLOBIN F (COSENZA)
OMIM	142250.0014	Disease	p.HIS117ARG	HEMOGLOBIN F (MALTA)
OMIM	142250.0009	Disease	p.HIS77ARG	HEMOGLOBIN F (KENNESTONE)
OMIM	142250.0050	Disease	p.HIS63LEU	CYANOSIS, TRANSIENT NEONATAL
OMIM	142250.0032	Disease	p.HIS146TYR	HEMOGLOBIN F (ONODA)
OMIM	142250.0025	Disease	p.HIS63TYR	CYANOSIS, TRANSIENT NEONATAL
OMIM	142250.0034	Disease	p.HIS92TYR	CYANOSIS, TRANSIENT NEONATEL
OMIM	142250.0039 142250.0045	Disease	p.ILE75THR	HEMOGLOBIN F (LESVOS)
OMIM	142250.0022	Disease	p.LYS66ARG	HEMOGLOBIN F (SHANGHAI)
OMIM	142250.0040	Disease	p.LYS104ASN	HEMOGLOBIN F (MACEDONIA II)
OMIM	142250.0048	Disease	p.LYS17ASN	HEMOGLOBIN F (CLAMART)
OMIM	142250.0005	Disease	p.LYS65ASN	HEMOGLOBIN F (CLARKE)
OMIM	142250.0003	Disease	p.LYS120GLN	HEMOGLOBIN F (CALTECH)
OMIM	142250.0038 142250.0043	Disease	p.LYS59GLN	HEMOGLOBIN F (SACROMONTE)
OMIM	142250.0031	Disease	p.LYS66GLN	HEMOGLOBIN F (BROOKLYN)
OMIM	142250.0042	Disease	p.LYS59GLU	HEMOGLOBIN F (EMIRATES)
OMIM	142250.0001	Disease	p.LYS8GLX	HEMOGLOBIN F (ALBAICIN)
OMIM	142250.0010	Disease	p.MET55ARG	HEMOGLOBIN F (KINGSTON)
OMIM	142250.0047	Disease	p.PHE118LEU	HEMOGLOBIN F (CALABRIA)
OMIM	142250.0041	Disease	p.PHE41SER	CYANOSIS, TRANSIENT NEONATAL
OMIM	142250.0012	Disease	p.SER44ARG	HEMOGLOBIN F (LODZ)
OMIM	142250.0036	Disease	p.TRP15ARG	HEMOGLOBIN F (CATALONIA)
OMIM	142250.0020	Disease	p.TRP130GLY	HEMOGLOBIN F (POOLE)
OMIM	142250.0023	Disease	p.VAL34ILE	HEMOGLOBIN F (TOKYO)
OMIM	142250.0051	Disease	p.VAL67MET	CYANOSIS, TRANSIENT NEONATAL

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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