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Results for the Protein: Q8NDX2
74723817

VGLU3_HUMAN RecName: Full=Vesicular glutamate transporter 3; Short=VGluT3; AltName: Full=Solute carrier family 17 member 8

Known Diseases associated with this Protein:
  DEAFNESS, AUTOSOMAL DOMINANT 25
  DEAFNESS, AUTOSOMAL DOMINANT, 25 (DFNA25)
2
3
1
0
4
Tips:
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Default View:

ProP - COG0477
MFS - cd06174
MFS_1 - pfam07690
Sugar_tr - pfam00083
UhpC - COG2271


Swiss-Prot Protein: Q8NDX2
Identical to: NP_647480
   Default View:







Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
ProPCOG04776.8e-0773480
MFScd061747e-6379502
Sugar_trpfam000830.0004284511
UhpCCOG22710.0002298515
MFS_1pfam076905.5e-3781465

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_054131Polymorphismp.ALA220THRN/A
Swiss-ProtVAR_054130Diseasep.ALA211VALDeafness, autosomal dominant, 25 (DFNA25)
Swiss-ProtVAR_054132Polymorphismp.GLY246GLUN/A
Swiss-ProtVAR_042905Polymorphismp.THR8ILEN/A
OMIM607557.0001 Diseasep.ALA211VALDEAFNESS, AUTOSOMAL DOMINANT 25



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