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Results for the Protein: NP_001035930
110224476

proactivator polypeptide isoform b preproprotein [Homo sapiens]

Known Diseases associated with this Protein:
  GAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
  METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
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Default View:

SAPA - smart00162
SapA - pfam02199
SapB_1 - pfam05184
SapB - smart00741
SapB_2 - pfam03489




Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SapApfam021994.1e-202154
SapB_1pfam051844.5e-146098
SapB_2pfam034892e-11103138
SapB_1pfam051844e-06195234
SapB_2pfam034892.9e-10238274
SapB_1pfam051843.9e-14315353
SapB_2pfam034895.1e-13357391
SapB_1pfam051842.3e-13409447
SapB_2pfam034894.9e-11451485
SapApfam021993.4e-22494527
SAPAsmart001624.9e-232154
SapBsmart007416.2e-3061138
SapBsmart007411.7e-19196274
SapBsmart007412.3e-28316391
SapBsmart007412.6e-26410485
SAPAsmart001629.4e-21494527

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM176801.0007 Diseasep.ASN215HISMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM176801.0010 Diseasep.CYS382GLYGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0004 Diseasep.CYS385PHEGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0003 Diseasep.CYS241SERMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM176801.0011 Diseasep.GLN430TERGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0012 Diseasep.LEU349PROGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0001 Diseasep.THR217ILEMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY



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