Results for the protein: NP

Results for the Protein: NP_001078896

313569797

410

ARSA

NCBI

arylsulfatase A isoform a precursor [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, LATE-ONSET
  METACHROMATIC LEUKODYSTROPHY, MILD
  METACHROMATIC LEUKODYSTROPHY, SEVERE

36

4

36

4

0

Tips:

The Domains on the Default View are decided by the Domain's E-Value.

Clicking a check box will display or hide the correlated domain.

To view the Gene page, either click on the link to the left or the blue bar above the Protein's graphic.

Default View: AslA - COG3119 Sulfatase - pfam00884	RefSeq Protein: NP_001078896 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Sulfatase	pfam00884	1.9e-119	23	442

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
dbSNP	rs6151428	Polymorphism	p.ARG498HIS	N/A
dbSNP	rs2071421	Polymorphism	p.ASN352SER	N/A
dbSNP	rs743616	Polymorphism	p.THR393SER	N/A
dbSNP	rs6151415	Polymorphism	p.TRP195CYS	N/A
OMIM	607574.0022	Disease	p.ALA212VAL	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0023	Disease	p.ALA224VAL	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0025	Disease	p.ARG244CYS	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0029	Disease	p.ARG288CYS	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0034	Disease	p.ARG370GLN	METACHROMATIC LEUKODYSTROPHY, MILD
OMIM	607574.0010	Disease	p.ARG84GLN	METACHROMATIC LEUKODYSTROPHY, LATE-ONSET
OMIM	607574.0033	Disease	p.ARG370TRP	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0037	Disease	p.ARG390TRP	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0021	Disease	p.ASP169ASN	ARYLSULFATASE A PSEUDODEFICIENCY
OMIM	607574.0032	Disease	p.ASP335VAL	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0046	Disease	p.CYS300PHE	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0040	Disease	p.GLN486TER	ARYLSULFATASE A PSEUDODEFICIENCY
OMIM	607574.0044	Disease	p.GLU253LYS	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0036	Disease	p.GLU382LYS	ARYLSULFATASE A PSEUDODEFICIENCY, INTERMEDIATE
OMIM	607574.0026	Disease	p.GLY245ARG	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0018	Disease	p.GLY154ASP	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0013	Disease	p.GLY86ASP	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0005	Disease	p.GLY99ASP	METACHROMATIC LEUKODYSTROPHY, ADULT
OMIM	607574.0015	Disease	p.GLY122SER	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0011	Disease	p.GLY309SER	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0008	Disease	p.ILE179SER	METACHROMATIC LEUKODYSTROPHY, JUVENILE\|\|METACHROMATIC LEUKODYSTROPHY, ADULT, INCLUDED
OMIM	607574.0019	Disease	p.PRO155ARG	ARYLSULFATASE A PSEUDODEFICIENCY
OMIM	607574.0020	Disease	p.PRO167ARG	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0042	Disease	p.PRO135LEU	METACHROMATIC LEUKODYSTROPHY, ADULT
OMIM	607574.0016	Disease	p.PRO136LEU	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0035	Disease	p.PRO377LEU	ARYLSULFATASE A PSEUDODEFICIENCY, SEVERE
OMIM	607574.0004	Disease	p.PRO426LEU	METACHROMATIC LEUKODYSTROPHY, JUVENILE\|\|ARYLSULFATASE A, ALLELE A, INCLUDED;;\|\|METACHROMATIC LEUKODYSTROPHY, ADULT, INCL
OMIM	607574.0024	Disease	p.PRO231THR	METACHROMATIC LEUKODYSTROPHY
OMIM	607574.0047	Disease	p.PRO425THR	METACHROMATIC LEUKODYSTROPHY, JUVENILE
OMIM	607574.0014	Disease	p.SER96LEU	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0006	Disease	p.SER96PHE	METACHROMATIC LEUKODYSTROPHY, LATE INFANTILE
OMIM	607574.0030	Disease	p.SER295TYR	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0045	Disease	p.THR408ILE	METACHROMATIC LEUKODYSTROPHY, ADULT
OMIM	607574.0039	Disease	p.THR409ILE	METACHROMATIC LEUKODYSTROPHY, MILD
OMIM	607574.0027	Disease	p.THR274MET	METACHROMATIC LEUKODYSTROPHY, SEVERE
OMIM	607574.0043	Disease	p.THR286PRO	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.

DMDM_info@umbc.edu | 1000 Hilltop Circle, Baltimore, MD 21250 | Department of Biological Sciences | Phone: 410-455-2258