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UniProtKB/Swiss-Prot Q8NDX2: Variant p.Ala211Val

Vesicular glutamate transporter 3
Gene: SLC17A8
Chromosomal location: 12q23.1
Variant information

Variant position:  211
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Valine (V) at position 211 (A211V, p.Ala211Val).
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 small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Deafness, autosomal dominant, 25 (DFNA25) [MIM:605583]: A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA25 expression is variable in terms of onset and rate of progression, with an age-dependent penetrance resembling an early-onset presbycusis, or senile deafness, a progressive bilateral loss of hearing that occurs in the aged. {ECO:0000269|PubMed:18674745}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In DFNA25.
Any additional useful information about the variant.

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



Sequence information

Variant position:  211
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  589
The length of the canonical sequence.

Location on the sequence:   LQGLVEGVTYPACHGMWSKW  A PPLERSRLATTSFCGSYAGA
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                         LQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGA

Mouse                         LQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGA

Rat                           LQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGA

Zebrafish                     LQGLVEGVTYPACHGMWSKWAPPLERSRLATTSFCGSYAGA

Caenorhabditis elegans        VQGLALGVLYPAMHGVWKFWAPPLERSKLATTAFTGSSVGV

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.

TypePositionsDescription
Chain 1 – 589 Vesicular glutamate transporter 3
Topological domain 204 – 221 Cytoplasmic


Literature citations

Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Ruel J.; Emery S.; Nouvian R.; Bersot T.; Amilhon B.; Van Rybroek J.M.; Rebillard G.; Lenoir M.; Eybalin M.; Delprat B.; Sivakumaran T.A.; Giros B.; El Mestikawy S.; Moser T.; Smith R.J.H.; Lesperance M.M.; Puel J.-L.;
Am. J. Hum. Genet. 83:278-292(2008)
Cited for: VARIANT DFNA25 VAL-211;

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.