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Results for the Protein: Q495M9
81175048

USH1G_HUMAN RecName: Full=Usher syndrome type-1G protein; AltName: Full=Scaffold protein containing ankyrin repeats and SAM domain

Known Diseases associated with this Protein:
  USHER SYNDROME 1G (USH1G)
  USHER SYNDROME, TYPE IG
4
2
2
2
2
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Default View:

ANK - cd00204
Ank - pfam00023
ANK - smart00248
SAM_1 - pfam00536
- cd00166
SAM - smart00454


Swiss-Prot Protein: Q495M9
Identical to: NP_775748
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
cd001661.8e-09386447
Ankpfam000230.000113163
Ankpfam000231.3e-086496
SAM_1pfam005365.9e-08385447
ANKsmart002480.000153160
ANKsmart002486.9e-066493
SAMsmart004541.6e-05387449

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_060468Diseasep.ASP458VALUsher syndrome 1G (USH1G)
dbSNPrs111033466 Polymorphismp.GLU142LYSN/A
Swiss-ProtVAR_023739Diseasep.LEU48PROUsher syndrome 1G (USH1G)
dbSNPrs111033465 Polymorphismp.LYS130GLUN/A
OMIM607696.0001 Diseasep.LEU48PROUSHER SYNDROME, TYPE IG
OMIM607696.0005 Diseasep.TRP38TERUSHER SYNDROME, TYPE IG



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