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Results for the Protein: Q8N4S9
317373387

MALD2_HUMAN RecName: Full=MARVEL domain-containing protein 2; AltName: Full=Tricellulin

Known Diseases associated with this Protein:
  DEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49
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Default View:

MARVEL - pfam01284
Occludin_ELL - pfam07303


Swiss-Prot Protein: Q8N4S9
Identical to: NP_001033692
   Default View:



Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MARVELpfam012841.1e-11185361
Occludin_ELLpfam073034.1e-55446548

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs1185246 Polymorphismp.THR33ILEN/A
OMIM610572.0004 Diseasep.ARG500TERDEAFNESS, NEUROSENSORY, AUTOSOMAL RECESSIVE 49



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