Results for the protein: NP

Results for the Protein: NP_001078897

146229327

410

ARSA

NCBI

arylsulfatase A isoform b [Homo sapiens]

Known Diseases associated with this Protein:
  ARYLSULFATASE A PSEUDODEFICIENCY
  ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
  ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
  ARYLSULFATASE A, ALLELE A, INCLUDED;;
  METACHROMATIC LEUKODYSTROPHY
  METACHROMATIC LEUKODYSTROPHY, ADULT
  METACHROMATIC LEUKODYSTROPHY, ADULT, INCL
  METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
  METACHROMATIC LEUKODYSTROPHY, JUVENILE
  METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
  METACHROMATIC LEUKODYSTROPHY, MILD
  METACHROMATIC LEUKODYSTROPHY, SEVERE

34

4

34

4

0

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Default View: Sulfatase - pfam00884 AslA - COG3119	RefSeq Protein: NP_001078897 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Sulfatase	pfam00884	3.6e-63	1	356

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6151428	Polymorphism	p.ARG412HIS	N/A
dbSNP	rs2071421	Polymorphism	p.ASN266SER	N/A
dbSNP	rs743616	Polymorphism	p.THR307SER	N/A
dbSNP	rs6151415	Polymorphism	p.TRP109CYS	N/A
OMIM	607574.0022	Disease	p.ALA126VAL	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0023	Disease	p.ALA138VAL	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0025	Disease	p.ARG158CYS	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0029	Disease	p.ARG202CYS	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0034	Disease	p.ARG284GLN	METACHROMATIC LEUKODYSTROPHY, MILD
OMIM	607574.0033	Disease	p.ARG284TRP	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0037	Disease	p.ARG304TRP	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0021	Disease	p.ASP83ASN	ARYLSULFATASE A PSEUDODEFICIENCY
OMIM	607574.0032	Disease	p.ASP249VAL	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0046	Disease	p.CYS214PHE	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0040	Disease	p.GLN400TER	ARYLSULFATASE A PSEUDODEFICIENCY
OMIM	607574.0044	Disease	p.GLU167LYS	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0036	Disease	p.GLU296LYS	ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
OMIM	607574.0026	Disease	p.GLY159ARG	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0005	Disease	p.GLY13ASP	METACHROMATIC LEUKODYSTROPHY, ADULT
OMIM	607574.0018	Disease	p.GLY68ASP	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0011	Disease	p.GLY223SER	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0015	Disease	p.GLY36SER	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0008	Disease	p.ILE93SER	METACHROMATIC LEUKODYSTROPHY, JUVENILE\|\|METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
OMIM	607574.0019	Disease	p.PRO69ARG	ARYLSULFATASE A PSEUDODEFICIENCY
OMIM	607574.0020	Disease	p.PRO81ARG	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0035	Disease	p.PRO291LEU	ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
OMIM	607574.0004	Disease	p.PRO340LEU	METACHROMATIC LEUKODYSTROPHY, JUVENILE\|\|ARYLSULFATASE A, ALLELE A, INCLUDED;;\|\|METACHROMATIC LEUKODYSTROPHY, ADULT, INCL
OMIM	607574.0042	Disease	p.PRO49LEU	METACHROMATIC LEUKODYSTROPHY, ADULT
OMIM	607574.0016	Disease	p.PRO50LEU	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0024	Disease	p.PRO145THR	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0047	Disease	p.PRO339THR	METACHROMATIC LEUKODYSTROPHY, JUVENILE
OMIM	607574.0014	Disease	p.SER10LEU	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0006	Disease	p.SER10PHE	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0030	Disease	p.SER209TYR	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0045	Disease	p.THR322ILE	METACHROMATIC LEUKODYSTROPHY, ADULT
OMIM	607574.0039	Disease	p.THR323ILE	METACHROMATIC LEUKODYSTROPHY, MILD
OMIM	607574.0027	Disease	p.THR188MET	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0043	Disease	p.THR200PRO	METACHROMATIC LEUKODYSTROPHY, ADULT

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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