Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 764 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 SFFPAIIYLFFGTSRHISVG PFPILSMMVGLAVSGAVSKAV
Mouse AFFPVITYFFLGTSRHISVG PFPVLSMMVGV----VVTRVV
Rat AFFPVITYFFLGTSRHISVG PFPVLSMMVGV----VVTRVA
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 – 764 Chloride anion exchanger
125 – 145 Helical
Update on SLC26A3 mutations in congenital chloride diarrhea.
Wedenoja S.; Pekansaari E.; Hoglund P.; Makela S.; Holmberg C.; Kere J.;
Hum. Mutat. 32:715-722(2011)
Cited for: VARIANTS DIAR1 LEU-129; LEU-131; ILE-136; ASP-204; PRO-220; TYR-343; 344-PHE--VAL-349 DELINS ASP-ALA; ALA-379; PHE-398; ASN-521 AND ASN-544;
Twelve novel mutations in the SLC26A3 gene in 17 sporadic cases of congenital chloride diarrhea.
Amato F.; Cardillo G.; Liguori R.; Scorza M.; Comegna M.; Elce A.; Giordano S.; Lucaccioni L.; Lugli L.; Cardile S.; Romano C.; Pezzella V.; Castaldo G.; Canani R.B.;
J. Pediatr. Gastroenterol. Nutr. 0:0-0(2016)
Cited for: VARIANTS DIAR1 SER-120; LEU-129; ARG-131; VAL-318 DEL; ILE-394; PRO-438; PRO-495; ARG-508; GLU-547; PRO-654 AND ILE-675 INS;
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.