Results for the protein: P63261

Results for the Protein: P63261

54036678

71

ACTG1

NCBI, UniProt

ACTG_HUMAN RecName: Full=Actin, cytoplasmic 2; AltName: Full=Gamma-actin; Contains: RecName: Full=Actin, cytoplasmic 2, N-terminally processed

Known Diseases associated with this Protein:
  BARAITSER-WINTER SYNDROME 2
  BARAITSER-WINTER SYNDROME 2 (BRWS2)
  DEAFNESS, AUTOSOMAL DOMINANT 20
  DEAFNESS, AUTOSOMAL DOMINANT, 20 (DFNA20)

29

2

14

0

17

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Default View: COG5277 - COG5277 Actin - pfam00022 ACTIN - smart00268 NBD_sugar-kinase_HSP - cd00012	Swiss-Prot Protein: P63261 Identical to: NP_001186883, NP_001605 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG5277	COG5277	8e-179	1	375
Actin	pfam00022	2.3e-243	3	375
ACTIN	smart00268	1.1e-233	5	375

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_067815	Disease	p.ALA135VAL	Baraitser-Winter syndrome 2 (BRWS2)
Swiss-Prot	VAR_067818	Disease	p.ARG254TRP	Baraitser-Winter syndrome 2 (BRWS2)
Swiss-Prot	VAR_067819	Disease	p.ARG256TRP	Baraitser-Winter syndrome 2 (BRWS2)
Swiss-Prot	VAR_067826	Disease	p.GLU241LYS	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_067825	Disease	p.ILE122VAL	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_067824	Disease	p.LYS118ASN	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_032435	Disease	p.LYS118MET	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_032438	Disease	p.PRO332ALA	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_055482	Polymorphism	p.PRO243LEU	N/A
Swiss-Prot	VAR_032436	Disease	p.PRO264LEU	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_067816	Disease	p.SER155PHE	Baraitser-Winter syndrome 2 (BRWS2)
Swiss-Prot	VAR_067814	Disease	p.THR120ILE	Baraitser-Winter syndrome 2 (BRWS2)
Swiss-Prot	VAR_048186	Polymorphism	p.THR160ILE	N/A
Swiss-Prot	VAR_032437	Disease	p.THR278ILE	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_032434	Disease	p.THR89ILE	Deafness, autosomal dominant, 20 (DFNA20)
Swiss-Prot	VAR_067817	Disease	p.THR203LYS	Baraitser-Winter syndrome 2 (BRWS2)
Swiss-Prot	VAR_032439	Disease	p.VAL370ALA	Deafness, autosomal dominant, 20 (DFNA20)
OMIM	102560.0011	Disease	p.ALA135VAL	BARAITSER-WINTER SYNDROME 2
OMIM	102560.0013	Disease	p.ARG254TRP	BARAITSER-WINTER SYNDROME 2
OMIM	102560.0014	Disease	p.ARG256TRP	BARAITSER-WINTER SYNDROME 2
OMIM	102560.0008	Disease	p.GLU241LYS	DEAFNESS, AUTOSOMAL DOMINANT 20
OMIM	102560.0007	Disease	p.LYS118ASN	DEAFNESS, AUTOSOMAL DOMINANT 20
OMIM	102560.0002	Disease	p.LYS118MET	DEAFNESS, AUTOSOMAL DOMINANT 20
OMIM	102560.0003	Disease	p.PRO332ALA	DEAFNESS, AUTOSOMAL DOMINANT 20
OMIM	102560.0004	Disease	p.PRO264LEU	DEAFNESS, AUTOSOMAL DOMINANT 20
OMIM	102560.0009	Disease	p.SER155PHE	BARAITSER-WINTER SYNDROME 2
OMIM	102560.0010	Disease	p.THR120ILE	BARAITSER-WINTER SYNDROME 2
OMIM	102560.0005	Disease	p.THR278ILE	DEAFNESS, AUTOSOMAL DOMINANT 20
OMIM	102560.0001	Disease	p.THR89ILE	DEAFNESS, AUTOSOMAL DOMINANT 20
OMIM	102560.0012	Disease	p.THR203LYS	BARAITSER-WINTER SYNDROME 2
OMIM	102560.0006	Disease	p.VAL370ALA	DEAFNESS, AUTOSOMAL DOMINANT 20

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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