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Results for the Protein: NP_001002261
50557646

protrudin isoform a [Homo sapiens]

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT
1
3
1
3
0
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Default View:

FYVE - smart00064
FYVE - pfam01363
FYVE - cd00065




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
FYVEpfam013634.1e-05346416
FYVEsmart000647.2e-07345416

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs10882993 Polymorphismp.GLY138VALN/A
dbSNPrs35077384 Polymorphismp.GLY191VALN/A
dbSNPrs17108378 Polymorphismp.VAL82ILEN/A
OMIM610243.0001 Diseasep.GLY191VALSPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT



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