UniProtKB/Swiss-Prot P06865: Variant p.Ile436Val

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 436 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/B 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 Isoleucine (I) to Valine (V) at position 436 (I436V, p.Ile436Val). 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: Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 3 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
Other resources: Links to websites of interest for the variant.

• Variant rs1800431 [ dbSNP | Ensembl ]

Sequence information

Variant position: 436 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 529 The length of the canonical sequence.
Location on the sequence: LSAPWYLNRISYGPDWKDFY I VEPLAFEGTPEQKALVIGGE 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.
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
Chain	89 – 529	Beta-hexosaminidase subunit alpha
Alternative sequence	361 – 529	Missing. In isoform 2.
Helix	431 – 436

Literature citations

Human beta-hexosaminidase alpha chain: coding sequence and homology with the beta chain.
Myerowitz R.; Piekarz R.; Neufeld E.F.; Shows T.B.; Suzuki K.;
Proc. Natl. Acad. Sci. U.S.A. 82:7830-7834(1985)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-436; Organization of the gene encoding the human beta-hexosaminidase alpha-chain.
Proia R.L.; Soravia E.;
J. Biol. Chem. 262:5677-5681(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-436; Sequence of DNA flanking the exons of the HEXA gene, and identification of mutations in Tay-Sachs disease.
Triggs-Raine B.L.; Akerman B.R.; Clarke J.T.R.; Gravel R.A.;
Am. J. Hum. Genet. 49:1041-1054(1991)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT VAL-436; Submission
Suzuki Y.; Sugano S.; Totoki Y.; Toyoda A.; Takeda T.; Sakaki Y.; Tanaka A.; Yokoyama S.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT VAL-436; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS PSEUDODEFICIENCY TRP-249 AND VAL-436; 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] (ISOFORM 1); VARIANT VAL-436; 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] OF 40-529 (ISOFORM 1); VARIANT VAL-436; Six novel deleterious and three neutral mutations in the gene encoding the alpha-subunit of hexosaminidase A in non-Jewish individuals.
Mules E.H.; Hayflick S.; Miller C.S.; Reynolds L.W.; Thomas G.H.;
Am. J. Hum. Genet. 50:834-841(1992)
Cited for: VARIANT GM2G1 GLY-320 DEL; VARIANTS ASP-399 AND VAL-436; Initial characterization of the human central proteome.
Burkard T.R.; Planyavsky M.; Kaupe I.; Breitwieser F.P.; Buerckstuemmer T.; Bennett K.L.; Superti-Furga G.; Colinge J.;
BMC Syst. Biol. 5:17-17(2011)
Cited for: VARIANT [LARGE SCALE ANALYSIS] VAL-436; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];