Results for the protein: P07686

Results for the Protein: P07686

123081

3074

HEXB

NCBI, UniProt

HEXB_HUMAN RecName: Full=Beta-hexosaminidase subunit beta; AltName: Full=Beta-N-acetylhexosaminidase subunit beta; Short=Hexosaminidase subunit B; AltName: Full=Cervical cancer proto-oncogene 7 protein; Short=HCC-7; AltName: Full=N-acetyl-beta-glucosaminidase subunit beta; Contains: RecName: Full=Beta-hexosaminidase subunit beta chain B; Contains: RecName: Full=Beta-hexosaminidase subunit beta chain A; Flags: Precursor

Known Diseases associated with this Protein:
  GM2-GANGLIOSIDOSIS 2 (GM2G2)
  SANDHOFF DISEASE, ADULT TYPE
  SANDHOFF DISEASE, CHRONIC
  SANDHOFF DISEASE, INFANTILE
  SANDHOFF DISEASE, INFANTILE TYPE
  SANDHOFF DISEASE, JUVENILE TYPE

16

3

7

4

8

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: Glyco_hydro_20b - pfam02838 GH20_Sm-chitobiase-l - cd06569 Glyco_hydro_20 - pfam00728 GH20_chitobiase-like - cd06570 GH20_SpHex_like - cd06568 GH20_chitobiase-like - cd06563 GH20_HexA_HexB-like - cd06562 GH20_DspB_LnbB-like - cd06564 GH20_hexosaminidase - cd02742 GH20_GcnA-like - cd06565	Swiss-Prot Protein: P07686 Identical to: NP_000512 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
GH20_HexA_HexB-like	cd06562	2.3e-224	200	540
GH20_chitobiase-like	cd06563	2.5e-47	200	529
GH20_SpHex_like	cd06568	1.1e-17	200	529
GH20_chitobiase-like	cd06570	5.7e-57	200	529
GH20_DspB_LnbB-like	cd06564	5.6e-15	201	516
GH20_hexosaminidase	cd02742	2.6e-158	202	515
GH20_GcnA-like	cd06565	7.1e-05	202	515
Glyco_hydro_20b	pfam02838	2.5e-71	68	198
Glyco_hydro_20	pfam00728	1.3e-125	200	517

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_011706	Disease	p.ALA543THR	GM2-gangliosidosis 2 (GM2G2)
Swiss-Prot	VAR_003253	Disease	p.ARG505GLN	GM2-gangliosidosis 2 (GM2G2)
Swiss-Prot	VAR_003250	Disease	p.CYS309TYR	GM2-gangliosidosis 2 (GM2G2)
Swiss-Prot	VAR_003254	Disease	p.CYS534TYR	GM2-gangliosidosis 2 (GM2G2)
dbSNP	rs10805890	Polymorphism	p.ILE207VAL	N/A
dbSNP	rs77499935	Polymorphism	p.ILE420VAL	N/A
dbSNP	rs11556045	Polymorphism	p.LYS121ARG	N/A
Swiss-Prot	VAR_003251	Disease	p.PRO417LEU	GM2-gangliosidosis 2 (GM2G2)
Swiss-Prot	VAR_011705	Disease	p.PRO504SER	GM2-gangliosidosis 2 (GM2G2)
Swiss-Prot	VAR_011704	Disease	p.SER255ARG	GM2-gangliosidosis 2 (GM2G2)
dbSNP	rs820878	Disease	p.SER62LEU	GM2-gangliosidosis 2 (GM2G2)
Swiss-Prot	VAR_003252	Disease	p.TYR456SER	GM2-gangliosidosis 2 (GM2G2)
OMIM	606873.0009	Disease	p.ARG505GLN	SANDHOFF DISEASE, ADULT TYPE
OMIM	606873.0017	Disease	p.ARG284TER	SANDHOFF DISEASE, INFANTILE
OMIM	606873.0010	Disease	p.PRO405LEU	SANDHOFF DISEASE, ADULT TYPE
OMIM	606873.0007	Disease	p.PRO417LEU	SANDHOFF DISEASE, JUVENILE TYPE
OMIM	606873.0014	Disease	p.PRO504SER	SANDHOFF DISEASE, CHRONIC
OMIM	606873.0012	Disease	p.SER62LEU	SANDHOFF DISEASE, INFANTILE TYPE
OMIM	606873.0006	Disease	p.TYR456SER	SANDHOFF DISEASE, JUVENILE TYPE

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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