Home News About DMDM Database Statistics Research Publications Contact  

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
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

 Clicking a check box will display or hide the correlated domain.

 To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.



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 ↕
NBD_sugar-kinase_HSPcd000129.6e-2389375
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



   |   1000 Hilltop Circle, Baltimore, MD 21250   |   Department of Biological Sciences   |   Phone: 410-455-2258