Variant: rs121918103 

    present in Gene: PSAP
    present in Chromosome: 10
    Position on Chromosome: 71828084
    Alleles of this Variant: G/A

rs121918103 in PSAP gene and Metachromatic Leukodystrophy due to Saposin B Deficiency PMID 2320574 1990 Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect.

PMID 2302219 1990 Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy.

PMID 10682309 2000 A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD).

PMID 2019586 1991 Sulfatide activator protein. Alternative splicing that generates three mRNAs and a newly found mutation responsible for a clinical disease.

PMID 10196694 1999 An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity.

rs121918103 in PSAP gene and Movement Disorders PMID 26831127 2016 Clinical, biochemical and molecular characterization of prosaposin deficiency.

PMID 20484222 2010 Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting.

PMID 15773042 2005 A mutation in the saposin A coding region of the prosaposin gene in an infant presenting as Krabbe disease: first report of saposin A deficiency in humans.

PMID 19955343 2009 Sphingolipid activator protein B deficiency: report of 9 Saudi patients and review of the literature.