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Results for the Protein: P11055
251757455

MYH3_HUMAN RecName: Full=Myosin-3; AltName: Full=Muscle embryonic myosin heavy chain; AltName: Full=Myosin heavy chain 3; AltName: Full=Myosin heavy chain, fast skeletal muscle, embryonic; AltName: Full=SMHCE

Known Diseases associated with this Protein:
  ARTHROGRYPOSIS, DISTAL, 2A (DA2A)
  ARTHROGRYPOSIS, DISTAL, 2B (DA2B)
  ARTHROGRYPOSIS, DISTAL, TYPE 2A
  ARTHROGRYPOSIS, DISTAL, TYPE 2B
  ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
21
6
7
2
18
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_VIII - cd01383
MYSc - smart00242
MYSc_type_II - cd01377
MYSc_type_IX - cd01385
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
IQ - smart00015
Myosin_tail_1 - pfam01576


Swiss-Prot Protein: P11055
Identical to: NP_002461
   Default View:


















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MYSc_type_IIcd0137782778
MYSc_type_IXcd013859.4e-8083786
MYSc_type_XVcd013872.5e-15586778
MYSc_type_XIcd013841e-19986782
MYSccd0012487778
MYSc_type_VIIcd013817.4e-21487778
MYSc_type_VIcd013821.2e-9387778
MYSc_type_IIIcd013793.3e-6687801
MYSc_type_Vcd013801.1e-20787778
MYSc_type_XVIIIcd013866.8e-1687778
MYSc_type_Icd013781.4e-17488778
Motor_domaincd01363122676
COG5022COG50223.3e-287191538
Myosin_Npfam027365.3e-163576
Myosin_headpfam0006388767
Myosin_tail_1pfam0157610691927
MYScsmart0024281779
IQsmart000150.00076781803

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_030197Polymorphismp.ALA1192THRN/A
Swiss-ProtVAR_056173Polymorphismp.ALA1003VALN/A
Swiss-ProtVAR_030384Diseasep.ALA1637VALArthrogryposis, distal, 2B (DA2B)
Swiss-ProtVAR_030196Polymorphismp.ARG1137CYSN/A
Swiss-ProtVAR_030377Diseasep.ARG672CYSArthrogryposis, distal, 2A (DA2A)
Swiss-ProtVAR_030378Diseasep.ARG672HISArthrogryposis, distal, 2A (DA2A)
Swiss-ProtVAR_030383Diseasep.ASP1622ALAArthrogryposis, distal, 2B (DA2B)
dbSNPrs2285477 Polymorphismp.ASP1192ASNN/A
Swiss-ProtVAR_030375Diseasep.ASP517TYRArthrogryposis, distal, 2B (DA2B)
Swiss-ProtVAR_030374Diseasep.GLU498GLYArthrogryposis, distal, 2A (DA2A)
Swiss-ProtVAR_030373Diseasep.GLU375LYSArthrogryposis, distal, 2B (DA2B)
Swiss-ProtVAR_030379Diseasep.GLY769VALArthrogryposis, distal, 2B (DA2B)
dbSNPrs2285475 Polymorphismp.LYS1046ASNN/A
Swiss-ProtVAR_030381Diseasep.LYS838GLUArthrogryposis, distal, 2B (DA2B)
Swiss-ProtVAR_030372Diseasep.SER292CYSArthrogryposis, distal, 2B (DA2B)
Swiss-ProtVAR_030371Diseasep.SER261PHEArthrogryposis, distal, 2B (DA2B)
Swiss-ProtVAR_056174Polymorphismp.THR1313ILEN/A
Swiss-ProtVAR_030370Diseasep.THR178ILEArthrogryposis, distal, 2B (DA2B)
Swiss-ProtVAR_030376Diseasep.TYR583SERArthrogryposis, distal, 2A (DA2A)
Swiss-ProtVAR_030380Diseasep.VAL825ASPArthrogryposis, distal, 2A (DA2A)
OMIM160720.0008 Diseasep.ALA234THRARTHROGRYPOSIS, DISTAL, TYPE 2B
OMIM160720.0002 Diseasep.ARG672CYSARTHROGRYPOSIS, DISTAL, TYPE 2A
OMIM160720.0001 Diseasep.ARG672HISARTHROGRYPOSIS, DISTAL, TYPE 2A
OMIM160720.0007 Diseasep.ASP462GLYARTHROGRYPOSIS, DISTAL, TYPE 2B
OMIM160720.0006 Diseasep.GLU375LYSARTHROGRYPOSIS, DISTAL, TYPE 2B
OMIM160720.0003 Diseasep.THR178ILEARTHROGRYPOSIS, DISTAL, TYPE 2A||ARTHROGRYPOSIS, DISTAL, TYPE 2B, INCLUDED
OMIM160720.0004 Diseasep.VAL825ASPARTHROGRYPOSIS, DISTAL, TYPE 2A



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