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Results for the Protein: Q8TDI8
212286376

TMC1_HUMAN RecName: Full=Transmembrane channel-like protein 1; AltName: Full=Transmembrane cochlear-expressed protein 1

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 36
  DEAFNESS, AUTOSOMAL DOMINANT, 36 (DFNA36)
  DEAFNESS, AUTOSOMAL RECESSIVE 7
  DEAFNESS, AUTOSOMAL RECESSIVE, 7 (DFNB7)
7
3
5
2
3
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TMC - pfam07810


Swiss-Prot Protein: Q8TDI8
Identical to: NP_619636
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_052334Polymorphismp.ARG141TRPN/A
Swiss-ProtVAR_014125Diseasep.ASP572ASNDeafness, autosomal dominant, 36 (DFNA36)
dbSNPrs1796993 Polymorphismp.GLU81LYSN/A
dbSNPrs17058153 Polymorphismp.MET486THRN/A
Swiss-ProtVAR_014126Diseasep.MET654VALDeafness, autosomal recessive, 7 (DFNB7)
OMIM606706.0002 Diseasep.ARG34TERDEAFNESS, AUTOSOMAL RECESSIVE 7
OMIM606706.0001 Diseasep.ASP572ASNDEAFNESS, AUTOSOMAL DOMINANT 36
OMIM606706.0004 Diseasep.ASP572HISDEAFNESS, AUTOSOMAL DOMINANT 36
OMIM606706.0006 Diseasep.CYS515ARGDEAFNESS, AUTOSOMAL RECESSIVE 7
OMIM606706.0003 Diseasep.MET654VALDEAFNESS, AUTOSOMAL RECESSIVE 7



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