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Results for the Protein: P62736
51316972
59

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 ↕
NBD_sugar-kinase_HSPcd000121.9e-2399375
COG5277COG52773.9e-1761377
Actinpfam000223.2e-2455377
ACTINsmart002684.1e-2267377

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_045918Diseasep.ARG149CYSAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_045920Diseasep.ARG258CYSAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_045916Diseasep.ARG118GLNAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_062579Diseasep.ARG185GLNAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_062580Diseasep.ARG212GLNAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_045922Diseasep.ARG292GLYAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_064516Diseasep.ARG179HISMultisystemic smooth muscle dysfunction syndrome (MSMDYS)
Swiss-ProtVAR_045921Diseasep.ARG258HISAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_062577Diseasep.ARG39HISAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_045915Diseasep.ASN117THRAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_011946Polymorphismp.HIS373PRON/A
Swiss-ProtVAR_011945Polymorphismp.THR320ALAN/A
Swiss-ProtVAR_062581Diseasep.THR326ASNAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_045923Diseasep.THR353ASNAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_011944Polymorphismp.THR196SERN/A
Swiss-ProtVAR_062578Diseasep.TYR145CYSAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_045917Diseasep.TYR135HISAortic aneurysm, familial thoracic 6 (AAT6)
Swiss-ProtVAR_045919Diseasep.VAL154ALAAortic aneurysm, familial thoracic 6 (AAT6)
OMIM102620.0001 Diseasep.ARG149CYSAORTIC ANEURYSM, FAMILIAL THORACIC 6
OMIM102620.0003 Diseasep.ARG258CYSAORTIC ANEURYSM, FAMILIAL THORACIC 6||MOYAMOYA DISEASE 5, INCLUDED
OMIM102620.0005 Diseasep.ARG39CYSAORTIC ANEURYSM, FAMILIAL THORACIC 6
OMIM102620.0004 Diseasep.ARG179HISMULTISYSTEMIC SMOOTH MUSCLE DYSFUNCTION SYNDROME||MOYAMOYA DISEASE 5, INCLUDED
OMIM102620.0002 Diseasep.ARG258HISAORTIC ANEURYSM, FAMILIAL THORACIC 6||MOYAMOYA DISEASE 5, INCLUDED
OMIM102620.0006 Diseasep.MET49VALAORTIC ANEURYSM, FAMILIAL THORACIC 6



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