Results for the protein: P17900

Results for the Protein: P17900

160331912

2760

GM2A

NCBI, UniProt

SAP3_HUMAN RecName: Full=Ganglioside GM2 activator; AltName: Full=Cerebroside sulfate activator protein; AltName: Full=GM2-AP; AltName: Full=Sphingolipid activator protein 3; Short=SAP-3; Contains: RecName: Full=Ganglioside GM2 activator isoform short; Flags: Precursor

Known Diseases associated with this Protein:
GM2-GANGLIOSIDOSIS AB (GM2GAB)
GM2-GANGLIOSIDOSIS, AB VARIANT

5

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2

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Default View: GM2-AP - cd00258 ML - smart00737 ML - cd00912	Swiss-Prot Protein: P17900 Identical to: NP_000396 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
ML	cd00912	1.2e-73	36	188
ML	smart00737	2e-53	36	188

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs1048719	Polymorphism	p.ALA19THR	N/A
Swiss-Prot	VAR_011698	Disease	p.ARG169PRO	GM2-gangliosidosis AB (GM2GAB)
Swiss-Prot	VAR_006947	Disease	p.CYS138ARG	GM2-gangliosidosis AB (GM2GAB)
dbSNP	rs153477	Polymorphism	p.ILE59VAL	N/A
dbSNP	rs153478	Polymorphism	p.MET69VAL	N/A
dbSNP	rs61740602	Polymorphism	p.VAL153ALA	N/A
OMIM	613109.0002	Disease	p.ARG169PRO	GM2-GANGLIOSIDOSIS, AB VARIANT
OMIM	613109.0001	Disease	p.CYS107ARG	GM2-GANGLIOSIDOSIS, AB VARIANT
OMIM	613109.0005	Disease	p.GLU54TER	GM2-GANGLIOSIDOSIS, AB VARIANT

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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