Variant position: 220 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 FVVIYLSESLISGFTTAAAV HVLVSQLKFIFQLTVPSHTDP
Mouse FVVIYLSESLISGFTTAAAI HVLVSQLKFMLQLPVPAYSDP
Rat FVVIYLSESLISGFTTAAAI HVLVSQLKFMLQLTVPAHSDP
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
219 – 257 Extracellular
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;
Compound heterozygous mutations in the SLC26A3 gene in 2 Spanish siblings with congenital chloride diarrhea.
Rodriguez-Herrera A.; Navas-Lopez V.M.; Redondo-Nevado J.; Gutierrez G.;
J. Pediatr. Gastroenterol. Nutr. 52:106-110(2011)
Cited for: VARIANT DIAR1 PRO-220;
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