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Results for the Protein: P13533
317373582

MYH6_HUMAN RecName: Full=Myosin-6; AltName: Full=Myosin heavy chain 6; AltName: Full=Myosin heavy chain, cardiac muscle alpha isoform; Short=MyHC-alpha

Known Diseases associated with this Protein:
  ATRIAL SEPTAL DEFECT 3
  ATRIAL SEPTAL DEFECT 3 (ASD3)
  CARDIOMYOPATHY, DILATED 1EE (CMD1EE)
  CARDIOMYOPATHY, DILATED, 1EE
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 14 (CMH14)
  CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
  SICK SINUS SYNDROME 3 (SSS3)
  SICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
14
10
7
3
14
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

COG5022 - COG5022
Myosin_N - pfam02736
MYSc_type_IX - cd01385
MYSc_type_VIII - cd01383
MYSc - smart00242
MYSc_type_II - cd01377
MYSc_type_XI - cd01384
MYSc_type_XV - cd01387
MYSc_type_XVIII - cd01386
MYSc_type_V - cd01380
MYSc_type_III - cd01379
MYSc - cd00124
MYSc_type_VI - cd01382
MYSc_type_VII - cd01381
MYSc_type_I - cd01378
Myosin_head - pfam00063
Motor_domain - cd01363
Myosin_tail_1 - pfam01576


Swiss-Prot Protein: P13533
Identical to: NP_002462
   Default View:


















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MYSc_type_VIIIcd013836.1e-17280779
MYSc_type_IIcd0137781779
MYSc_type_XVcd013871.5e-15985779
MYSc_type_XIcd013842.3e-20685783
MYSccd0012486779
MYSc_type_IIIcd013794.9e-7186802
MYSc_type_VIIcd013818.9e-22286779
MYSc_type_Vcd013803.9e-21486779
MYSc_type_VIcd013828.3e-8786779
MYSc_type_XVIIIcd013867.9e-1686779
MYSc_type_Icd013782.6e-18187779
Motor_domaincd01363121677
COG5022COG50223.9e-291261614
Myosin_Npfam027361.2e-173475
Myosin_headpfam0006387768
Myosin_tail_1pfam0157610701928
MYScsmart0024280780

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063553Diseasep.ALA1004SERCardiomyopathy, dilated 1EE (CMD1EE)
dbSNPrs28730771 Polymorphismp.ALA1130THRN/A
Swiss-ProtVAR_063558Polymorphismp.ARG1502GLNN/A
Swiss-ProtVAR_031882Diseasep.ARG795GLNCardiomyopathy, familial hypertrophic 14 (CMH14)
Swiss-ProtVAR_065561Diseasep.ARG721TRPSick sinus syndrome 3 (SSS3)
Swiss-ProtVAR_063554Diseasep.GLN1065HISCardiomyopathy, familial hypertrophic 14 (CMH14)
Swiss-ProtVAR_061364Polymorphismp.GLN1593LEUN/A
Swiss-ProtVAR_063556Polymorphismp.GLU1295GLNN/A
Swiss-ProtVAR_030203Polymorphismp.GLU88GLNN/A
Swiss-ProtVAR_063557Diseasep.GLU1457LYSCardiomyopathy, dilated 1EE (CMD1EE)
dbSNPrs28711516 Polymorphismp.GLY56ARGN/A
Swiss-ProtVAR_063551Polymorphismp.ILE275ASNN/A
Swiss-ProtVAR_031883Diseasep.ILE820ASNAtrial septal defect 3 (ASD3)
Swiss-ProtVAR_030204Polymorphismp.LEU783METN/A
Swiss-ProtVAR_063552Diseasep.PRO830LEUCardiomyopathy, dilated 1EE (CMD1EE)
Swiss-ProtVAR_030206Polymorphismp.THR1737SERN/A
dbSNPrs365990 Polymorphismp.VAL1101ALAN/A
OMIM160710.0006 Diseasep.ALA1004SERCARDIOMYOPATHY, DILATED, 1EE
OMIM160710.0002 Diseasep.ARG795GLNCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
OMIM160710.0008 Diseasep.ARG721TRPSICK SINUS SYNDROME 3, SUSCEPTIBILITY TO
OMIM160710.0004 Diseasep.GLN1065HISCARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
OMIM160710.0007 Diseasep.GLU1457LYSCARDIOMYOPATHY, DILATED, 1EE
OMIM160710.0003 Diseasep.ILE820ASNATRIAL SEPTAL DEFECT 3
OMIM160710.0005 Diseasep.PRO830LEUCARDIOMYOPATHY, DILATED, 1EE



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