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Results for the Protein: P68133
61218043
58

ACTS_HUMAN RecName: Full=Actin, alpha skeletal muscle; AltName: Full=Alpha-actin-1; Flags: Precursor

Known Diseases associated with this Protein:
  MYOPATHY, ACTIN, CONGENITAL, WITH CORES
  MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS
  MYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS (MPCETM)
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
  MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION (CFTD)
  NEMALINE MYOPATHY 3
  NEMALINE MYOPATHY 3 (NEM3)
94
0
16
0
78
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Default View:

COG5277 - COG5277
Actin - pfam00022
ACTIN - smart00268
NBD_sugar-kinase_HSP - cd00012


Swiss-Prot Protein: P68133
Identical to: NP_001091
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG5277COG52773.5e-1752377
Actinpfam000224e-2465377
ACTINsmart002683.4e-2267377

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_062470Diseasep.ALA274GLUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062449Diseasep.ALA172GLYNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062443Diseasep.ALA140PRONemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062439Diseasep.ALA116THRNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062453Diseasep.ARG185ASPNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015582Diseasep.ARG185CYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015581Diseasep.ARG185GLYNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062441Diseasep.ARG118HISNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015583Diseasep.ARG258HISNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062455Diseasep.ARG198LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062467Diseasep.ARG258LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062454Diseasep.ARG185SERNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062477Diseasep.ARG374SERNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015585Diseasep.ASN282LYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_011682Diseasep.ASN117SERNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062440Diseasep.ASN117THRNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062459Diseasep.ASN227VALNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062447Diseasep.ASP156ASNNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062452Diseasep.ASP181ASNNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062425Diseasep.ASP27ASNNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062450Diseasep.ASP181GLYNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015586Diseasep.ASP288GLYNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062451Diseasep.ASP181HISNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062424Diseasep.ASP3TYRNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_032918Diseasep.ASP294VALMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_062465Diseasep.GLN248ARGNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062428Diseasep.GLN43ARGNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015584Diseasep.GLN265LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062464Diseasep.GLN248LYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062473Diseasep.GLU336ALANemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062458Diseasep.GLU226GLNNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062457Diseasep.GLU226GLYNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062463Diseasep.GLU243LYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062433Diseasep.GLU74LYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062438Diseasep.GLU85LYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_011685Diseasep.GLU261VALNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_011680Diseasep.GLY17ARGMyopathy, actin, congenital, with excess of thin myofilaments (MPCETM)
Swiss-ProtVAR_062469Diseasep.GLY270ARGNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062445Diseasep.GLY148ASPNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015580Diseasep.GLY184ASPNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062466Diseasep.GLY253ASPNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062468Diseasep.GLY270ASPNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_011686Diseasep.GLY270CYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062456Diseasep.GLY199SERNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062429Diseasep.GLY44VALNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062435Diseasep.HIS75ARGNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062434Diseasep.HIS75LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015579Diseasep.HIS42TYRNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062431Diseasep.ILE66ASNNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_015587Diseasep.ILE359LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062436Diseasep.ILE77LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_011683Diseasep.ILE138METNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062444Diseasep.LEU142PRONemaline myopathy 3 (NEM3)
Swiss-ProtVAR_032917Diseasep.LEU223PROMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_011681Diseasep.LEU96PRONemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062479Diseasep.LYS375GLNNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062474Diseasep.LYS338GLUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062478Diseasep.LYS375GLUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062475Diseasep.LYS338ILENemaline myopathy 3 (NEM3)
Swiss-ProtVAR_013471Diseasep.MET271ARGNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062460Diseasep.MET229ILENemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062472Diseasep.MET285LYSNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062461Diseasep.MET229THRNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_013470Diseasep.MET134VALNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062462Diseasep.MET229VALNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062427Diseasep.PRO40LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_032919Diseasep.PRO334SERMyopathy, congenital, with fiber-type disproportion (CFTD)
Swiss-ProtVAR_062476Diseasep.SER350LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062437Diseasep.THR79ALANemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062446Diseasep.THR150ASNNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062432Diseasep.THR68ILENemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062471Diseasep.TYR281HISNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062442Diseasep.VAL136ALANemaline myopathy 3 (NEM3)
Swiss-ProtVAR_011684Diseasep.VAL165LEUMyopathy, actin, congenital, with excess of thin myofilaments (MPCETM)
Swiss-ProtVAR_062426Diseasep.VAL37LEUNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062448Diseasep.VAL165METNemaline myopathy 3 (NEM3)
Swiss-ProtVAR_011687Diseasep.VAL372PHENemaline myopathy 3 (NEM3)
Swiss-ProtVAR_062430Diseasep.VAL45PHENemaline myopathy 3 (NEM3)
OMIM102610.0002 Diseasep.ASN115SERNEMALINE MYOPATHY 3
OMIM102610.0011 Diseasep.ASP292VALMYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
OMIM102610.0010 Diseasep.GLU334ALAMYOPATHY, ACTIN, CONGENITAL, WITH CORES
OMIM102610.0015 Diseasep.GLU74ASPNEMALINE MYOPATHY 3
OMIM102610.0005 Diseasep.GLU259VALNEMALINE MYOPATHY 3
OMIM102610.0003 Diseasep.GLY15ARGMYOPATHY, ACTIN, CONGENITAL, WITH EXCESS OF THIN MYOFILAMENTS
OMIM102610.0007 Diseasep.GLY268CYSNEMALINE MYOPATHY 3
OMIM102610.0015 Diseasep.HIS75TYRNEMALINE MYOPATHY 3
OMIM102610.0006 Diseasep.ILE357LEUNEMALINE MYOPATHY 3
OMIM102610.0008 Diseasep.ILE136METNEMALINE MYOPATHY 3
OMIM102610.0012 Diseasep.LEU221PROMYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
OMIM102610.0001 Diseasep.LEU94PRONEMALINE MYOPATHY 3
OMIM102610.0016 Diseasep.LYS328ASNNEMALINE MYOPATHY 3
OMIM102610.0013 Diseasep.PRO332SERMYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION
OMIM102610.0004 Diseasep.VAL163LEUNEMALINE MYOPATHY 3
OMIM102610.0014 Diseasep.VAL163METNEMALINE MYOPATHY 3



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