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Results for the Protein: NP_001035931
110224479

proactivator polypeptide isoform c 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_2pfam034891.6e-09238273
SapB_1pfam051843.9e-14314352
SapB_2pfam034895.1e-13356390
SapB_1pfam051842.3e-13408446
SapB_2pfam034894.9e-11450484
SapApfam021993.4e-22493526
SAPAsmart001624.9e-232154
SapBsmart007416.2e-3061138
SapBsmart007413.8e-20196273
SapBsmart007412.3e-28315390
SapBsmart007412.6e-26409484
SAPAsmart001629.4e-21493526

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.CYS381GLYGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0004 Diseasep.CYS384PHEGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0003 Diseasep.CYS241SERMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY
OMIM176801.0011 Diseasep.GLN429TERGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0012 Diseasep.LEU348PROGAUCHER DISEASE, ATYPICAL, DUE TO SAPOSIN C DEFICIENCY
OMIM176801.0001 Diseasep.THR217ILEMETACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY



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