UniProtKB/SwissProt variant VAR

Variant information

Variant position:

207

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 207 (I207V, p.Ile207Val).

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 rs10805890 [ dbSNP | Ensembl ]

Sequence information

Variant position:

207

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:

FTINESTIIDSPRFSHRGIL I DTSRHYLPVKIILKTLDAMA

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                         FTINESTIIDSPRFSHRGILIDTSRHYLPVKIILKTLDAMA

Mouse                         FTINESSIADSPRFPHRGILIDTSRHFLPVKTILKTLDAMA

Rat                           FTINESTIADSPRFPHRGILIDTSRHYLPVKTIFKTLDAMA

Pig                           FTVNESEIIDFPRFPHRGILIDTGRHFLSVKTIFKTLDAMA

Cat                           FTVNESDIIDSPRFPHRGILIDTARHFLPVKSILKTLDAMA

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	122 – 556	Beta-hexosaminidase subunit beta
Chain	122 – 311	Beta-hexosaminidase subunit beta chain B
Glycosylation	190 – 190	N-linked (GlcNAc...) asparagine
Mutagenesis	211 – 211	R -> K. Does not affect the native conformation of the isozyme A. Does not affect hydrolysis of GM2 ganglioside by the isozyme A.
Beta strand	201 – 212

Literature citations

Molecular basis of an adult form of beta-hexosaminidase B deficiency with motor neuron disease.
Banerjee P.; Siciliano L.; Oliveri D.; McCabe N.R.; Boyers M.J.; Horwitz A.L.; Li S.-C.; Dawson G.;
Biochem. Biophys. Res. Commun. 181:108-115(1991)
Cited for: VARIANT GM2G2 SER-456; VARIANT VAL-207;

Significance of two point mutations present in each HEXB allele of patients with adult GM2 gangliosidosis (Sandhoff disease) homozygosity for the Ile207-->Val substitution is not associated with a clinical or biochemical phenotype.
Redonnet-Vernhet I.; Mahuran D.J.; Salvayre R.; Dubas F.; Levade T.;
Biochim. Biophys. Acta 1317:127-133(1996)
Cited for: VARIANT GM2G2 GLN-505; VARIANT VAL-207;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07686: Variant p.Ile207Val