UniProtKB/SwissProt variant VAR

Variant information

Variant position:

62

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Leucine (L) to Serine (S) at position 62 (L62S, p.Leu62Ser).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from medium size and hydrophobic (L) to small size and polar (S)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-2

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

In GM2G2.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs820878 [ dbSNP | Ensembl ]

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                         AARAPSVSAKPGPALWPLPLLVKMTPNLLHLAPENFYISHS

Mouse                         ALVAP---ARLQPALWPFPRSVQMFPRLLYISAEDFSIDHS

Rat                           ALVAP---FGLQPALWPMPRSVQVFPRLLYISPENFQIDNS

Pig                           WARDT--SGAESLGLWPLPFAVDISPRSLHLSPNNFFFGHS

Cat                           AAVAPRSSAAAGAALWPMPLSVKTSPRLLHLSRDNFSIGYG

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.

Type	Positions	Description
Propeptide	43 – 121
Beta strand	61 – 71

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07686: Variant p.Leu62Ser