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Results for the Protein: NP_001120651
256355179

unconventional myosin-VIIa isoform 3 [Homo sapiens]

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 11
  DEAFNESS, AUTOSOMAL RECESSIVE 2
  USHER SYNDROME, TYPE IB
  USHER SYNDROME, TYPE IB, INCLUDED
14
2
14
2
0
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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Default View:

COG5022 - COG5022
MYSc_type_VIII - cd01383
MYSc_type_IX - cd01385
MYSc - smart00242
MYSc_type_II - cd01377
MYSc_type_VI - cd01382
MYSc_type_XV - cd01387
MYSc_type_XI - cd01384
MYSc_type_XVIII - cd01386
MYSc_type_I - cd01378
MYSc_type_V - cd01380
MYSc_type_III - cd01379
MYSc - cd00124
MYSc_type_VII - cd01381
Myosin_head - pfam00063
Motor_domain - cd01363
IQ - smart00015
IQ - pfam00612
MyTH4 - smart00139




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MYSc_type_IXcd013854.4e-16359744
MYSc_type_IIcd013773.9e-20961740
MYSc_type_VIcd013827.9e-12962737
MYSc_type_XVcd013871.4e-24365740
MYSc_type_XIcd013841.3e-23765736
MYSccd0012466740
MYSc_type_IIIcd013799.9e-13166763
MYSc_type_VIIcd0138166740
MYSc_type_Vcd013802.7e-23966740
MYSc_type_XVIIIcd013862.7e-1366740
MYSc_type_Icd013781.5e-23266735
Motor_domaincd013633.7e-37101638
COG5022COG50225.8e-13611177
Myosin_headpfam000631.4e-28467729
IQpfam006123.5e-06768788
MYScsmart0024260741
IQsmart000152.1e-06766788
MyTH4smart001391.3e-5210171178

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1052030 Polymorphismp.LEU16SERN/A
dbSNPrs35641839 Polymorphismp.VAL679ILEN/A
OMIM276903.0005 Diseasep.ARG212CYSUSHER SYNDROME, TYPE IB
OMIM276903.0004 Diseasep.ARG212HISUSHER SYNDROME, TYPE IB
OMIM276903.0006 Diseasep.ARG302HISUSHER SYNDROME, TYPE IB
OMIM276903.0021 Diseasep.ARG395HISDEAFNESS, AUTOSOMAL RECESSIVE 2
OMIM276903.0007 Diseasep.ARG244PRODEAFNESS, AUTOSOMAL RECESSIVE 2
OMIM276903.0001 Diseasep.ARG150TERUSHER SYNDROME, TYPE IB
OMIM276903.0016 Diseasep.ARG666TERUSHER SYNDROME, TYPE IB
OMIM276903.0015 Diseasep.ASN458ILEDEAFNESS, AUTOSOMAL DOMINANT 11
OMIM276903.0019 Diseasep.ASP218ASNDEAFNESS, AUTOSOMAL DOMINANT 11
OMIM276903.0013 Diseasep.CYS31TERUSHER SYNDROME, TYPE IB
OMIM276903.0012 Diseasep.CYS628TERUSHER SYNDROME, TYPE IB
OMIM276903.0002 Diseasep.GLN234TERUSHER SYNDROME, TYPE IB
OMIM276903.0020 Diseasep.GLY671SERDEAFNESS, AUTOSOMAL DOMINANT 11
OMIM276903.0010 Diseasep.MET599ILEDEAFNESS, AUTOSOMAL RECESSIVE 2||USHER SYNDROME, TYPE IB, INCLUDED



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