NM_002778.4(PSAP):c.645C>A (p.Asn215Lys)Pathogenic
Sphingolipid activator protein 1 deficiency|Metachromatic leukodystrophy|Krabbe disease due to saposin A deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Sphingolipid activator protein 1 deficiency;Gaucher disease due to saposin C deficiency;Combined PSAP deficiency|Parkinson disease 24, autosomal dominant, susceptibility to
β
β
ββ2026β Residue 215
NM_002778.4(PSAP):c.1076A>C (p.Glu359Ala)Pathogenic
Metachromatic leukodystrophy|Gaucher disease due to saposin C deficiency|Sphingolipid activator protein 1 deficiency
β
β
ββ2026β Residue 359
NM_002778.4(PSAP):c.1005+1G>APathogenic
Gaucher disease due to saposin C deficiency|Sphingolipid activator protein 1 deficiency|Combined PSAP deficiency|Combined PSAP deficiency;Krabbe disease due to saposin A deficiency;Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Gaucher disease due to saposin C deficiency|Metachromatic leukodystrophy|not provided
β
β
ββ2025
NM_002778.4(PSAP):c.643A>C (p.Asn215His)Pathogenic
Sphingolipid activator protein 1 deficiency|PSAP-related disorder|Metachromatic leukodystrophy
β
β
ββ2025β Residue 215
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)Pathogenic
Sphingolipid activator protein 1 deficiency|Inborn genetic diseases|not provided|Parkinson disease 24, autosomal dominant, susceptibility to;Combined PSAP deficiency;Sphingolipid activator protein 1 deficiency;Krabbe disease due to saposin A deficiency;Gaucher disease due to saposin C deficiency|Parkinson disease 24, autosomal dominant, susceptibility to|Metachromatic leukodystrophy
β
β
ββ2025β Residue 217
NM_002778.4(PSAP):c.576+1G>ALikely pathogenic
Sphingolipid activator protein 1 deficiency|Metachromatic leukodystrophy
β
β
ββ2025
NM_002778.4(PSAP):c.2T>G (p.Met1Arg)Pathogenic
Sphingolipid activator protein 1 deficiency|not provided|Parkinson disease 24, autosomal dominant, susceptibility to
β
β
ββ2025β Residue 1
NM_002778.4(PSAP):c.1A>T (p.Met1Leu)Pathogenic
Combined PSAP deficiency|Gaucher disease due to saposin C deficiency|Sphingolipid activator protein 1 deficiency|Metachromatic leukodystrophy
β
β
ββ2025β Residue 1
NM_002778.4(PSAP):c.607C>T (p.Gln203Ter)Pathogenic
not provided|Sphingolipid activator protein 1 deficiency|Metachromatic leukodystrophy
β
β
ββ2025β Residue 203
NM_002778.4(PSAP):c.1A>G (p.Met1Val)Pathogenic
Sphingolipid activator protein 1 deficiency|Metachromatic leukodystrophy|Parkinson disease 24, autosomal dominant, susceptibility to
β
β
ββ2024β Residue 1
NM_002778.4(PSAP):c.722_723delinsAA (p.Cys241Ter)Pathogenic
Sphingolipid activator protein 1 deficiency|Metachromatic leukodystrophy
β
β
ββ2024β Residue 241
NM_002778.4(PSAP):c.577-1G>TPathogenic
Sphingolipid activator protein 1 deficiency|Parkinson disease 24, autosomal dominant, susceptibility to|Metachromatic leukodystrophy
β
β
ββ2024
NM_002778.4(PSAP):c.889G>T (p.Glu297Ter)Pathogenic
Sphingolipid activator protein 1 deficiency|Metachromatic leukodystrophy
β
β
ββ2024β Residue 297
NM_002778.4(PSAP):c.679_681del (p.Lys227del)Pathogenic
Sphingolipid activator protein 1 deficiency|Combined PSAP deficiency|Metachromatic leukodystrophy|Krabbe disease due to saposin A deficiency;Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Combined PSAP deficiency;Gaucher disease due to saposin C deficiency|PSAP-related disorder
β
β
ββ2024β Residue 227
NM_002778.4(PSAP):c.148C>T (p.Gln50Ter)Pathogenic
Sphingolipid activator protein 1 deficiency|Combined PSAP deficiency;Krabbe disease due to saposin A deficiency;Sphingolipid activator protein 1 deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Gaucher disease due to saposin C deficiency
β
β
ββ2024β Residue 50
NM_002778.4(PSAP):c.722G>C (p.Cys241Ser)Pathogenic
Sphingolipid activator protein 1 deficiency|Combined PSAP deficiency|Parkinson disease 24, autosomal dominant, susceptibility to
β
β
ββ2024β Residue 241
NM_002778.4(PSAP):c.828_829del (p.Glu276fs)Pathogenic
Sphingolipid activator protein 1 deficiency|not provided|Krabbe disease due to saposin A deficiency;Gaucher disease due to saposin C deficiency;Parkinson disease 24, autosomal dominant, susceptibility to;Combined PSAP deficiency;Sphingolipid activator protein 1 deficiency
β
β
ββ2023β Residue 276
NM_002778.4(PSAP):c.720+2_720+5delLikely pathogenic
not provided|Sphingolipid activator protein 1 deficiency
β
β
ββ2022
NM_002778.4(PSAP):c.721-1G>ALikely pathogenic
Sphingolipid activator protein 1 deficiency|Krabbe disease due to saposin A deficiency
β
β
ββ2019
NM_002778.4(PSAP):c.816_823del (p.Asp272fs)Pathogenic
not provided|Sphingolipid activator protein 1 deficiency
β
βββ2026β Residue 272