UniProtKB/Swiss-Prot P06865: Variant p.Arg249Trp

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 249 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 Arginine (R) to Tryptophan (W) at position 249 (R249W, p.Arg249Trp). 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 large size and basic (R) to large size and aromatic (W) 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 HEXA pseudodeficiency. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs138058578 [ dbSNP | Ensembl ]

Sequence information

Variant position: 249 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: PVTHIYTAQDVKEVIEYARL R GIRVLAEFDTPGHTLSWGPG 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

Literature citations

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; A second mutation associated with apparent beta-hexosaminidase A pseudodeficiency: identification and frequency estimation.
Cao Z.; Natowicz M.R.; Kaback M.M.; Lim-Steele J.S.T.; Prence E.M.; Brown D.; Chabot T.; Triggs-Raine B.L.;
Am. J. Hum. Genet. 53:1198-1205(1993)
Cited for: VARIANT PSEUDODEFICIENCY TRP-249;