Variant position: 124 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 YGLYASFFPAIIYLFFGTSR HISVGPFPILSMMVGLAVSGA
Mouse YGLYAAFFPVITYFFLGTSR HISVGPFPVLSMMVGV----V
Rat YGLYAAFFPVITYFFLGTSR HISVGPFPVLSMMVGV----V
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
121 – 124 Cytoplasmic
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea.
Hoeglund P.; Haila S.; Socha J.; Tomaszewski L.; Saarialho-Kere U.; Karjalainen-Lindsberg M.-L.; Airola K.; Holmberg C.; de la Chapelle A.; Kere J.;
Nat. Genet. 14:316-319(1996)
Cited for: VARIANTS DIAR1 LEU-124 AND VAL-318 DEL; VARIANT TRP-307;
Genetic background of congenital chloride diarrhea in high-incidence populations: Finland, Poland, and Saudi Arabia and Kuwait.
Hoglund P.; Auranen M.; Socha J.; Popinska K.; Nazer H.; Rajaram U.; Al Sanie A.; Al-Ghanim M.; Holmberg C.; de la Chapelle A.; Kere J.;
Am. J. Hum. Genet. 63:760-768(1998)
Cited for: VARIANTS DIAR1 SER-120; LEU-124; ARG-131 AND ARG-496;
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