Results for the protein: P62736

Results for the Protein: P62736

51316972

59

ACTA2

NCBI, UniProt

ACTA_HUMAN RecName: Full=Actin, aortic smooth muscle; AltName: Full=Alpha-actin-2; AltName: Full=Cell growth-inhibiting gene 46 protein; Flags: Precursor

Known Diseases associated with this Protein:
  AORTIC ANEURYSM, FAMILIAL THORACIC 6
  AORTIC ANEURYSM, FAMILIAL THORACIC 6 (AAT6)
  MOYAMOYA DISEASE 5, INCLUDED
  MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME
  MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME (MSMDYS)

21

3

6

0

18

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Default View: COG5277 - COG5277 Actin - pfam00022 ACTIN - smart00268 NBD_sugar-kinase_HSP - cd00012	Swiss-Prot Protein: P62736 Identical to: NP_001135417, NP_001604 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
COG5277	COG5277	3.9e-176	1	377
Actin	pfam00022	3.2e-245	5	377
ACTIN	smart00268	4.1e-226	7	377

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_045918	Disease	p.ARG149CYS	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_045920	Disease	p.ARG258CYS	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_045916	Disease	p.ARG118GLN	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_062579	Disease	p.ARG185GLN	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_062580	Disease	p.ARG212GLN	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_045922	Disease	p.ARG292GLY	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_064516	Disease	p.ARG179HIS	Multisystemic smooth muscle dysfunction syndrome (MSMDYS)
Swiss-Prot	VAR_045921	Disease	p.ARG258HIS	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_062577	Disease	p.ARG39HIS	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_045915	Disease	p.ASN117THR	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_011946	Polymorphism	p.HIS373PRO	N/A
Swiss-Prot	VAR_011945	Polymorphism	p.THR320ALA	N/A
Swiss-Prot	VAR_062581	Disease	p.THR326ASN	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_045923	Disease	p.THR353ASN	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_011944	Polymorphism	p.THR196SER	N/A
Swiss-Prot	VAR_062578	Disease	p.TYR145CYS	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_045917	Disease	p.TYR135HIS	Aortic aneurysm, familial thoracic 6 (AAT6)
Swiss-Prot	VAR_045919	Disease	p.VAL154ALA	Aortic aneurysm, familial thoracic 6 (AAT6)
OMIM	102620.0001	Disease	p.ARG149CYS	AORTIC ANEURYSM, FAMILIAL THORACIC 6
OMIM	102620.0003	Disease	p.ARG258CYS	AORTIC ANEURYSM, FAMILIAL THORACIC 6\|\|MOYAMOYA DISEASE 5, INCLUDED
OMIM	102620.0005	Disease	p.ARG39CYS	AORTIC ANEURYSM, FAMILIAL THORACIC 6
OMIM	102620.0004	Disease	p.ARG179HIS	MULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME\|\|MOYAMOYA DISEASE 5, INCLUDED
OMIM	102620.0002	Disease	p.ARG258HIS	AORTIC ANEURYSM, FAMILIAL THORACIC 6\|\|MOYAMOYA DISEASE 5, INCLUDED
OMIM	102620.0006	Disease	p.MET49VAL	AORTIC ANEURYSM, FAMILIAL THORACIC 6

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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