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Results for the Protein: P35579
6166599

MYH9_HUMAN RecName: Full=Myosin-9; AltName: Full=Cellular myosin heavy chain, type A; AltName: Full=Myosin heavy chain 9; AltName: Full=Myosin heavy chain, non-muscle IIa; AltName: Full=Non-muscle myosin heavy chain A; Short=NMMHC-A; AltName: Full=Non-muscle myosin heavy chain IIa; Short=NMMHC II-a; Short=NMMHC-IIA

Known Diseases associated with this Protein:
  ALPORT SYNDROME, WITH MACROTHROMBOCYTOPENIA (APSM)
  DEAFNESS, AUTOSOMAL DOMINANT 17
  DEAFNESS, AUTOSOMAL DOMINANT, 17 (DFNA17)
  EPSTEIN SYNDROME
  EPSTEIN SYNDROME (EPS)
  EPSTEIN SYNDROME, INCLUDED
  EPSTEIN SYNDROME, INCLUDED;;
  FECHTNER SYNDROME
  FECHTNER SYNDROME (FTNS)
  FECHTNER SYNDROME, INCLUDED
  FECHTNER SYNDROME, INCLUDED;;
  MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INCLUD
  MAY-HEGGLIN ANOMALY
  MAY-HEGGLIN ANOMALY (MHA)
  MAY-HEGGLIN ANOMALY, INCLUDED
  SEBASTIAN SYNDROME
  SEBASTIAN SYNDROME (SBS)
  SEBASTIAN SYNDROME, INCLUDED
  SEBASTIAN SYNDROME, INCLUDED;;
28
4
11
1
20
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

Myosin_N - pfam02736
COG5022 - COG5022
MYSc_type_IX - cd01385
MYSc - smart00242
MYSc_type_VIII - cd01383
MYSc_type_II - cd01377
MYSc_type_VI - cd01382
MYSc_type_XI - cd01384
MYSc_type_XV - cd01387
MYSc_type_XVIII - cd01386
MYSc_type_III - cd01379
MYSc_type_VII - cd01381
MYSc_type_V - cd01380
MYSc - cd00124
MYSc_type_I - cd01378
Myosin_head - pfam00063
Motor_domain - cd01363
IQ - smart00015
IQ - pfam00612
Myosin_tail_1 - pfam01576


Swiss-Prot Protein: P35579
Identical to: NP_002464
   Default View:


















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MYSc_type_IXcd013851.3e-9775779
MYSc_type_VIIIcd013833.4e-17876775
MYSc_type_IIcd0137777775
MYSc_type_VIcd013821.2e-11778778
MYSc_type_XIcd013842.8e-22681783
MYSc_type_XVcd013878.6e-17381775
MYSccd0012482775
MYSc_type_VIIcd013816.5e-21282775
MYSc_type_Vcd013802.7e-21382775
MYSc_type_IIIcd013797.9e-7982798
MYSc_type_XVIIIcd013861.1e-4782775
MYSc_type_Icd013784.5e-19683775
Motor_domaincd013631.1e-115117674
COG5022COG5022291555
Myosin_Npfam027362.7e-132971
Myosin_headpfam0006383764
IQpfam006120.0003780800
Myosin_tail_1pfam015763.3e-22910661923
MYScsmart0024276776
IQsmart000156.6e-05778800

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_018308Diseasep.ALA95THRMay-Hegglin anomaly (MHA)
Swiss-ProtVAR_010795Diseasep.ARG1165CYSSebastian syndrome (SBS)
Swiss-ProtVAR_010792Diseasep.ARG702CYSSebastian syndrome (SBS)
Swiss-ProtVAR_018311Diseasep.ARG702HISEpstein syndrome (EPS)
Swiss-ProtVAR_010793Diseasep.ARG705HISDeafness, autosomal dominant, 17 (DFNA17)
Swiss-ProtVAR_018313Diseasep.ARG1165LEUSebastian syndrome (SBS)
Swiss-ProtVAR_018315Polymorphismp.ARG1400TRPN/A
Swiss-ProtVAR_010791Diseasep.ASN93LYSMay-Hegglin anomaly (MHA)
Swiss-ProtVAR_018316Diseasep.ASP1424ASNSebastian syndrome (SBS)
Swiss-ProtVAR_010796Diseasep.ASP1424HISMay-Hegglin anomaly (MHA)
Swiss-ProtVAR_018317Diseasep.ASP1424TYRMay-Hegglin anomaly (MHA)
Swiss-ProtVAR_010797Diseasep.GLU1841LYSSebastian syndrome (SBS)
dbSNPrs2269529 Polymorphismp.ILE1626VALN/A
Swiss-ProtVAR_030385Diseasep.ILE1816VALEpstein syndrome (EPS)
Swiss-ProtVAR_018310Diseasep.LYS373ASNSebastian syndrome (SBS)
Swiss-ProtVAR_036006Polymorphismp.LYS810ASNN/A
Swiss-ProtVAR_044226Diseasep.LYS910GLNFechtner syndrome (FTNS)
Swiss-ProtVAR_018309Diseasep.SER96LEUEpstein syndrome (EPS)
Swiss-ProtVAR_018312Diseasep.SER1114PROAlport syndrome, with macrothrombocytopenia (APSM)
Swiss-ProtVAR_010794Diseasep.THR1155ILEMay-Hegglin anomaly (MHA)
Swiss-ProtVAR_044227Polymorphismp.VAL967GLUN/A
OMIM160775.0003 Diseasep.ARG1165CYSSEBASTIAN SYNDROME
OMIM160775.0006 Diseasep.ARG702CYSFECHTNER SYNDROME||EPSTEIN SYNDROME, INCLUDED;;||SEBASTIAN SYNDROME, INCLUDED;;||MAY-HEGGLIN ANOMALY, INCLUDED
OMIM160775.0009 Diseasep.ARG702HISFECHTNER SYNDROME||EPSTEIN SYNDROME, INCLUDED
OMIM160775.0008 Diseasep.ARG705HISDEAFNESS, AUTOSOMAL DOMINANT 17
OMIM160775.0001 Diseasep.ARG1933TERMAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED;;||SEBASTIAN SYNDROME, INCLUDED
OMIM160775.0004 Diseasep.ASN93LYSMAY-HEGGLIN ANOMALY
OMIM160775.0010 Diseasep.ASP1424ASNMAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED;;||MACROTHROMBOCYTOPENIA AND PROGRESSIVE SENSORINEURAL DEAFNESS, INCLUD
OMIM160775.0005 Diseasep.ASP1424HISFECHTNER SYNDROME
OMIM160775.0002 Diseasep.GLU1841LYSMAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED
OMIM160775.0012 Diseasep.SER96LEUEPSTEIN SYNDROME
OMIM160775.0007 Diseasep.THR1155ILEMAY-HEGGLIN ANOMALY||FECHTNER SYNDROME, INCLUDED



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