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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P50443: Variant p.Ala715Val

Sulfate transporter
Gene: SLC26A2
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Variant information Variant position: help 715 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Valine (V) at position 715 (A715V, p.Ala715Val). 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: help 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: help 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
Variant description: help In AO2 and EDM4; no effect on sulfate transport and cell membrane localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 715 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 739 The length of the canonical sequence.
Location on the sequence: help TNGEYCKKEEENLLFYSVYE A MAFAEVSKNQKGVCVPNGLS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TNGEYCKKEEENLLFYSVYEAMAFAEVSKNQKGVCVPNGLS

Mouse                         ARGEYCKKEEETLLFYSLSEAVAFAEDSQNQKGVCVVNGLS

Rat                           AKGEYCKKEEENLLFYSLSEAVAFAEESQKEKGVCVVNGLS

Bovine                        ARGEYCKKDEENLLFYSIYEAMTFAEDSQNQKERHIPNGPN

Sheep                         ARGEYCKKDEENLLFYSVYEAMTFAEDSQNQKERYVPNGPS

Horse                         ARGEYCKDEEENLLFYSVYEAMAFAEESQNQKGICIPNGL-
Sequence annotation in neighborhood: help 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 – 739 Sulfate transporter
Domain 568 – 719 STAS



Literature citations
Atelosteogenesis type II is caused by mutations in the diastrophic dysplasia sulfate-transporter gene (DTDST): evidence for a phenotypic series involving three chondrodysplasias.
Haestbacka J.; Superti-Furga A.; Wilcox W.R.; Rimoin D.L.; Cohn D.H.; Lander E.S.;
Am. J. Hum. Genet. 58:255-262(1996)
Cited for: VARIANTS AO2 GLU-255; TRP-279 AND VAL-715; Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene: correlation between sulfate transport activity and chondrodysplasia phenotype.
Karniski L.P.;
Hum. Mol. Genet. 10:1485-1490(2001)
Cited for: CHARACTERIZATION OF VARIANTS ACG1B VAL-340 DEL; ASP-425 AND VAL-678; CHARACTERIZATION OF VARIANTS AO2 GLU-255; TRP-279 AND VAL-715; CHARACTERIZATION OF VARIANT DIATROPHIC DYSPLASIA PRO-454; CHARACTERIZATION OF VARIANT EDM4 SER-653; FUNCTION; Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells.
Karniski L.P.;
Hum. Mol. Genet. 13:2165-2171(2004)
Cited for: CHARACTERIZATION OF VARIANTS ACG1B VAL-340; ASP-425 DEL AND VAL-678; CHARACTERIZATION OF VARIANTS EDM4 TRP-279; SER-653 AND VAL-715; CHARACTERIZATION OF VARIANT DIATROPHIC DYSPLASIA PRO-454; FUNCTION; SUBCELLULAR LOCATION; GLYCOSYLATION; Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.
Jackson G.C.; Mittaz-Crettol L.; Taylor J.A.; Mortier G.R.; Spranger J.; Zabel B.; Le Merrer M.; Cormier-Daire V.; Hall C.M.; Offiah A.; Wright M.J.; Savarirayan R.; Nishimura G.; Ramsden S.C.; Elles R.; Bonafe L.; Superti-Furga A.; Unger S.; Zankl A.; Briggs M.D.;
Hum. Mutat. 33:144-157(2012)
Cited for: VARIANTS EDM4 SER-256; TRP-279; SER-653 AND VAL-715;
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.