Variant position: 28 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 780 The length of the canonical sequence.
Location on the sequence:
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 SEPPQLPEYSCSYMVSRPVY SELAFQQQHERRLQERKTLRE
Mouse SEPPQLAEYSCSYTVSRPVY SELAFQQQRERRLPERRTLRD
Rat SEPPQLAEYSCSYAVSRPVY SELAFQQQRERRLPERRTLRD
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
1 – 780 Pendrin
1 – 87 Cytoplasmic
1 – 431 Missing. In isoform 2.
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
Fugazzola L.; Cerutti N.; Mannavola D.; Crino A.; Cassio A.; Gasparoni P.; Vannucchi G.; Beck-Peccoz P.;
Pediatr. Res. 51:479-484(2002)
Cited for: VARIANTS PDS ARG-28; THR-133; HIS-409 AND MET-410; VARIANT SER-597;
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;
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.