Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O43511: Variant p.Val239Asp

Pendrin
Gene: SLC26A4
Feedback?
Variant information Variant position: help 239 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 Valine (V) to Aspartate (D) at position 239 (V239D, p.Val239Asp). 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 medium size and hydrophobic (V) to medium size and acidic (D) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In PDS and DFNB4. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 239 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 780 The length of the canonical sequence.
Location on the sequence: help LVGGFTTAAAFQVLVSQLKI V LNVSTKNYNGVLSIIYTLVE 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                         LVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLVE

Mouse                         LVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGILSIIYTLIE

Rat                           LVGGFTTAAAFQVLVSQLKIVLNVSTKNYNGVLSIIYTLIE
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 – 780 Pendrin
Transmembrane 219 – 239 Helical
Alternative sequence 1 – 431 Missing. In isoform 2.



Literature citations
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
Tekin M.; Akcayoez D.; Comak E.; Bogoclu G.; Duman T.; Fitoz S.; Ilhan I.; Akar N.;
Clin. Genet. 64:371-374(2003)
Cited for: VARIANTS PDS ASP-239 AND ARG-723; Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
Park H.-J.; Shaukat S.; Liu X.-Z.; Hahn S.H.; Naz S.; Ghosh M.; Kim H.-N.; Moon S.-K.; Abe S.; Tukamoto K.; Riazuddin S.; Kabra M.; Erdenetungalag R.; Radnaabazar J.; Khan S.; Pandya A.; Usami S.; Nance W.E.; Wilcox E.R.; Riazuddin S.; Griffith A.J.;
J. Med. Genet. 40:242-248(2003)
Cited for: VARIANTS DFNB4 ARG-28; LEU-90; ASP-239; PRO-252; TYR-392; PRO-409; MET-410; LYS-457; GLN-676; MET-721 AND ARG-723; VARIANT PHE-455;
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.