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Results for the Protein: Q9BTV4
74733151

TMM43_HUMAN RecName: Full=Transmembrane protein 43; AltName: Full=Protein LUMA

Known Diseases associated with this Protein:
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
  ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5 (ARVD5)
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
  EMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT (EDMD7)
7
4
4
2
5
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Default View:

DUF1625 - pfam07787


Swiss-Prot Protein: Q9BTV4
Identical to: NP_077310
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
DUF1625pfam077871.9e-132121373

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_031754Polymorphismp.ALA318VALN/A
Swiss-ProtVAR_069794Diseasep.GLU85LYSEmery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
Swiss-ProtVAR_069795Diseasep.ILE91VALEmery-Dreifuss muscular dystrophy 7, autosomal dominant (EDMD7)
dbSNPrs4685076 Polymorphismp.LYS168ASNN/A
dbSNPrs2340917 Polymorphismp.MET179THRN/A
Swiss-ProtVAR_044438Diseasep.SER358LEUArrhythmogenic right ventricular dysplasia, familial, 5 (ARVD5)
Swiss-ProtVAR_031753Polymorphismp.TYR233CYSN/A
OMIM612048.0004 Diseasep.ALA57THRARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5
OMIM612048.0002 Diseasep.GLU85LYSEMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
OMIM612048.0003 Diseasep.ILE91VALEMERY-DREIFUSS MUSCULAR DYSTROPHY 7, AUTOSOMAL DOMINANT
OMIM612048.0001 Diseasep.SER358LEUARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 5



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