Results for the protein: Q99519

Results for the Protein: Q99519

17368612

4758

NEU1

NCBI, UniProt

NEUR1_HUMAN RecName: Full=Sialidase-1; AltName: Full=Acetylneuraminyl hydrolase; AltName: Full=G9 sialidase; AltName: Full=Lysosomal sialidase; AltName: Full=N-acetyl-alpha-neuraminidase 1; Flags: Precursor

Known Diseases associated with this Protein:
  SIALIDOSIS (SIALIDOSIS)
  SIALIDOSIS, TYPE I
  SIALIDOSIS, TYPE II

36

1

13

1

23

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: Sialidase - cd00260	Swiss-Prot Protein: Q99519 Identical to: NP_000425 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_012221	Disease	p.ALA298VAL	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_018077	Disease	p.ARG341GLY	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_018076	Disease	p.ARG225PRO	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012220	Disease	p.ARG294SER	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012212	Disease	p.GLY219ALA	Sialidosis (SIALIDOSIS)
dbSNP	rs34712643	Polymorphism	p.GLY88ALA	N/A
Swiss-Prot	VAR_012213	Disease	p.GLY227ARG	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012216	Disease	p.GLY243ARG	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012222	Disease	p.GLY328SER	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012208	Disease	p.GLY68VAL	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012209	Disease	p.LEU91ARG	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012214	Disease	p.LEU231HIS	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012219	Disease	p.LEU270PHE	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012218	Disease	p.LEU270PRO	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012224	Disease	p.LEU363PRO	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012217	Disease	p.PHE260TYR	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012223	Disease	p.PRO335GLN	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_017460	Disease	p.PRO80LEU	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_017461	Disease	p.PRO316SER	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012210	Disease	p.SER182GLY	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012215	Disease	p.TRP240ARG	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012225	Disease	p.TYR370CYS	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012211	Disease	p.VAL217MET	Sialidosis (SIALIDOSIS)
Swiss-Prot	VAR_012207	Disease	p.VAL54MET	Sialidosis (SIALIDOSIS)
OMIM	608272.0015	Disease	p.ALA298VAL	SIALIDOSIS, TYPE II
OMIM	608272.0014	Disease	p.ARG225PRO	SIALIDOSIS, TYPE II
OMIM	608272.0001	Disease	p.GLU377TER	SIALIDOSIS, TYPE I
OMIM	608272.0008	Disease	p.GLY243ARG	SIALIDOSIS, TYPE I
OMIM	608272.0002	Disease	p.LEU91ARG	SIALIDOSIS, TYPE II
OMIM	608272.0005	Disease	p.LEU303PRO	SIALIDOSIS, TYPE II
OMIM	608272.0004	Disease	p.PHE260TYR	SIALIDOSIS, TYPE II
OMIM	608272.0010	Disease	p.PRO80LEU	SIALIDOSIS, TYPE II
OMIM	608272.0012	Disease	p.PRO316SER	SIALIDOSIS, TYPE I
OMIM	608272.0011	Disease	p.TRP240ARG	SIALIDOSIS, TYPE II
OMIM	608272.0016	Disease	p.TRP23TER	SIALIDOSIS, TYPE II
OMIM	608272.0009	Disease	p.TRP29TER	SIALIDOSIS, TYPE II
OMIM	608272.0007	Disease	p.VAL217MET	SIALIDOSIS, TYPE I

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