Sequence information
Variant position: 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 556 The length of the canonical sequence.
Location on the sequence:
AARAPSVSAKPGPALWPLPL
L VKMTPNLLHLAPENFYISHS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human AARAPSVSAKPGPALWPLPLL VKMTPNLLHLAPENFYISHS
Mouse ALVAP---ARLQPALWPFPRS VQMFPRLLYISAEDFSIDHS
Rat ALVAP---FGLQPALWPMPRS VQVFPRLLYISPENFQIDNS
Pig WARDT--SGAESLGLWPLPFA VDISPRSLHLSPNNFFFGHS
Cat AAVAPRSSAAAGAALWPMPLS VKTSPRLLHLSRDNFSIGYG
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Literature citations
Isolation of cDNA clones coding for the alpha-subunit of human beta-hexosaminidase. Extensive homology between the alpha- and beta-subunits and studies on Tay-Sachs disease.
Korneluk R.G.; Mahuran D.J.; Neote K.; Klavins M.H.; O'Dowd B.F.; Tropak M.; Willard H.F.; Anderson M.-J.; Lowden J.A.; Gravel R.A.;
J. Biol. Chem. 261:8407-8413(1986)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-62;
Characterization of the human HEXB gene encoding lysosomal beta-hexosaminidase.
Neote K.; Bapat B.; Dumbrille-Ross A.; Troxel C.; Schuster S.M.; Mahuran D.J.; Gravel R.A.;
Genomics 3:279-286(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-62;
Gene encoding the human beta-hexosaminidase beta chain: extensive homology of intron placement in the alpha- and beta-chain genes.
Proia R.L.;
Proc. Natl. Acad. Sci. U.S.A. 85:1883-1887(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT SER-62;
Identification of a new proto-oncogene in human cancers.
Kim J.W.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-62;
Cloning of human full-length CDSs in BD Creator(TM) system donor vector.
Kalnine N.; Chen X.; Rolfs A.; Halleck A.; Hines L.; Eisenstein S.; Koundinya M.; Raphael J.; Moreira D.; Kelley T.; LaBaer J.; Lin Y.; Phelan M.; Farmer A.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-62;
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT SER-62;
Synthesis and assembly of a catalytically active lysosomal enzyme, beta-hexosaminidase B, in a cell-free system.
Sonderfeld-Fresko S.; Proia R.L.;
J. Biol. Chem. 263:13463-13469(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-67; VARIANT SER-62;
A second, large deletion in the HEXB gene in a patient with infantile Sandhoff disease.
Zhang Z.-X.; Wakamatsu N.; Akerman B.R.; Mules E.H.; Thomas G.H.; Gravel R.A.;
Hum. Mol. Genet. 4:777-780(1995)
Cited for: INVOLVEMENT IN GM2G2; VARIANT SER-62;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.