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Results for the Protein: NP_647594
21536402
274

myc box-dependent-interacting protein 1 isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  MYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
4
2
4
2
0
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Default View:

BAR - smart00721
BAR - pfam03114
SH3 - smart00326
SH3_2 - pfam07653
SH3_1 - pfam00018


RefSeq Protein: NP_647594
   Default View:





Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SH3_1pfam000180.00095483543
BARsmart007213e-9917269
SH3smart003267.4e-16478549
SH3_2pfam076533.5e-05481548

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs2228955 Polymorphismp.ARG298SERN/A
dbSNPrs112318500 Polymorphismp.ASP489VALN/A
OMIM601248.0004 Diseasep.ARG154GLNMYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
OMIM601248.0002 Diseasep.ASP151ASNMYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
OMIM601248.0001 Diseasep.LYS35ASNMYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE
OMIM601248.0003 Diseasep.LYS532TERMYOPATHY, CENTRONUCLEAR, AUTOSOMAL RECESSIVE



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