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Results for the Protein: Q13402
460018219

MYO7A_HUMAN RecName: Full=Unconventional myosin-VIIa

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 11
  DEAFNESS, AUTOSOMAL DOMINANT, 11 (DFNA11)
  DEAFNESS, AUTOSOMAL RECESSIVE 2
  DEAFNESS, AUTOSOMAL RECESSIVE, 2 (DFNB2)
  USHER SYNDROME 1B (USH1B)
  USHER SYNDROME, TYPE IB
  USHER SYNDROME, TYPE IB, INCLUDED
62
17
14
6
59
Tips:
 The Domains on the Default View are decided by the Domain's E-Value.

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



Default View:

COG5022 - COG5022
MYSc_type_VIII - cd01383
MYSc_type_IX - cd01385
MYSc - smart00242
MYSc_type_II - cd01377
MYSc_type_VI - cd01382
MYSc_type_XI - cd01384
MYSc_type_XV - cd01387
MYSc_type_III - cd01379
MYSc_type_XVIII - cd01386
MYSc_type_VII - cd01381
MYSc - cd00124
MYSc_type_I - cd01378
MYSc_type_V - cd01380
Myosin_head - pfam00063
Motor_domain - cd01363
IQ - smart00015
IQ - pfam00612
MyTH4 - smart00139
MyTH4 - pfam00784
B41 - smart00295
SH3 - smart00326
SH3 - cd00174
FERM_M - pfam00373


Swiss-Prot Protein: Q13402
Identical to: NP_000251
   Default View:


















Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MYSc_type_VIIIcd013831.6e-19958740
MYSc_type_IXcd013854.4e-16359744
MYSc_type_IIcd013773.9e-20961740
MYSc_type_VIcd013827.9e-12962737
MYSc_type_XIcd013841.3e-23765736
MYSc_type_XVcd013871.4e-24365740
MYSccd0012466740
MYSc_type_Vcd013802.7e-23966740
MYSc_type_VIIcd0138166740
MYSc_type_Icd013781.5e-23266735
MYSc_type_XVIIIcd013862.7e-1366740
MYSc_type_IIIcd013799.9e-13166763
Motor_domaincd013633.7e-37101638
SH3cd001742.1e-0716071669
COG5022COG50229.1e-18511490
Myosin_headpfam000631.4e-28467729
IQpfam006123.5e-06768788
MyTH4pfam007841.1e-5911481253
MyTH4pfam007849.5e-5617901896
FERM_Mpfam003731.7e-1520072115
MYScsmart0024260741
IQsmart000152.1e-06766788
MyTH4smart001392.7e-15010171253
B41smart002959.5e-4712551474
SH3smart003261.4e-0716041670
MyTH4smart001394e-7417471896
B41smart002951.1e-5718992115

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_009325Diseasep.ALA397ASPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024039Diseasep.ALA26GLUUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009338Diseasep.ALA1288PROUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009341Diseasep.ALA1628SERUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027304Diseasep.ALA198THRUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009332Diseasep.ALA826THRUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024046Diseasep.ALA457VALUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009318Diseasep.ARG212CYSUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024044Diseasep.ARG241CYSUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027308Diseasep.ARG853CYSDeafness, autosomal dominant, 11 (DFNA11)
Swiss-ProtVAR_009337Diseasep.ARG1240GLNUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009340Diseasep.ARG1602GLNUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024053Diseasep.ARG1883GLNUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009319Diseasep.ARG212HISUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009324Polymorphismp.ARG302HISN/A
Swiss-ProtVAR_009323Diseasep.ARG244PRODeafness, autosomal recessive, 2 (DFNB2)
Swiss-ProtVAR_024041Diseasep.ARG90PROUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009339Diseasep.ARG1343SERUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009322Diseasep.ARG241SERUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024051Diseasep.ARG1743TRPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027314Diseasep.ARG1873TRPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024048Diseasep.ARG756TRPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027306Diseasep.ASN458ILEDeafness, autosomal dominant, 11 (DFNA11)
Swiss-ProtVAR_027316Polymorphismp.ASP2142ASNN/A
Swiss-ProtVAR_024049Diseasep.GLU968ASPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009326Diseasep.GLU450GLNUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009336Diseasep.GLU1170LYSUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027309Diseasep.GLU1327LYSUsher syndrome 1B (USH1B)
Swiss-ProtVAR_056187Polymorphismp.GLU602LYSN/A
Swiss-ProtVAR_027302Diseasep.GLY163ARGUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009320Diseasep.GLY214ARGUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009316Diseasep.GLY25ARGUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027307Diseasep.GLY722ARGDeafness, autosomal dominant, 11 (DFNA11)
Swiss-ProtVAR_024055Diseasep.GLY2187ASPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024047Diseasep.GLY519ASPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009347Diseasep.GLY2137GLUUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027313Polymorphismp.GLY1740SERN/A
Swiss-ProtVAR_009348Diseasep.GLY2163SERUsher syndrome 1B (USH1B)
dbSNPrs111033231 Polymorphismp.GLY2214SERN/A
Swiss-ProtVAR_009334Diseasep.GLY955SERUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027301Diseasep.HIS133ASPUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024042Diseasep.ILE134ASNUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009317Polymorphismp.ILE205VALN/A
dbSNPrs948962 Polymorphismp.LEU1954ILEN/A
Swiss-ProtVAR_009335Diseasep.LEU1087PROUsher syndrome 1B (USH1B)
Swiss-ProtVAR_024052Diseasep.LEU1858PROUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009331Diseasep.LEU651PROUsher syndrome 1B (USH1B)
dbSNPrs1052030 Polymorphismp.LEU16SERN/A
Swiss-ProtVAR_009315Diseasep.LEU16SERUsher syndrome 1B (USH1B)
Swiss-ProtVAR_027303Diseasep.LYS164ARGUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009330Diseasep.MET599ILEDeafness, autosomal recessive, 2 (DFNB2)
Swiss-ProtVAR_009346Polymorphismp.PHE1992ILEN/A
Swiss-ProtVAR_024054Diseasep.PRO1887LEUUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009328Diseasep.PRO503LEUUsher syndrome 1B (USH1B)
dbSNPrs2276288 Polymorphismp.SER1666CYSN/A
Swiss-ProtVAR_027312Polymorphismp.SER1666GLYN/A
dbSNPrs111033183 Polymorphismp.SER1530LEUN/A
Swiss-ProtVAR_027305Diseasep.THR204ALAUsher syndrome 1B (USH1B)
Swiss-ProtVAR_066861Polymorphismp.THR193ILEN/A
Swiss-ProtVAR_027311Polymorphismp.THR1566METN/A
Swiss-ProtVAR_024043Diseasep.THR165METUsher syndrome 1B (USH1B)
Swiss-ProtVAR_009344Polymorphismp.TYR1719CYSN/A
Swiss-ProtVAR_009329Polymorphismp.VAL597ILEN/A
dbSNPrs35641839 Polymorphismp.VAL679ILEN/A
Swiss-ProtVAR_024040Diseasep.VAL67METUsher syndrome 1B (USH1B)
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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