SWISSVAR
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1 protein found in SwissVar (6 variants)

with gene/protein name P07602

Disclaimer: The query results are intended for research purposes only, not for clinical and diagnostic use.

Accession Entry name Disease Variants 3D mapping
(variant position)
P07602 SAP_HUMAN combined saposin deficiency
P07602 SAP_HUMAN metachromatic leukodystrophy p.Asn215His
p.Asn215Lys
p.Thr217Ile
p.Cys241Ser




P07602 SAP_HUMAN gaucher disease, atypical p.Leu349Pro
p.Cys388Phe


P07602 SAP_HUMAN krabbe disease, atypical
P07602 SAP_HUMAN variant of tay-sachs disease