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UniProtKB/Swiss-Prot P06865: Variant p.Asp314Val

Beta-hexosaminidase subunit alpha
Gene: HEXA
Variant information

Variant position:  314
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 Aspartate (D) to Valine (V) at position 314 (D314V, p.Asp314Val).
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 acidic (D) to medium size and hydrophobic (V)
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

Variant description:  In GM2G1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  314
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  529
The length of the canonical sequence.

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.

Chain 89 – 529 Beta-hexosaminidase subunit alpha
Active site 323 – 323 Proton donor
Glycosylation 295 – 295 N-linked (GlcNAc...) asparagine
Disulfide bond 277 – 328
Mutagenesis 295 – 295 N -> Q. No change of the catalytic activity associated with the alpha-chain. No catalytic activity associated with the alpha-chain; when associated with Q-115 and Q-157.
Beta strand 314 – 318

Literature citations

Novel mutations and DNA-based screening in non-Jewish carriers of Tay-Sachs disease.
Akerman B.R.; Natowicz M.R.; Kaback M.M.; Loyer M.; Campeau E.; Gravel R.A.;
Am. J. Hum. Genet. 60:1099-1106(1997)
Cited for: VARIANTS GM2G1 PHE-127; PHE-226; ASP-269 AND VAL-314;

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.