Variant position: 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 348 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 IMPLTGFILSVAFDILPLQA VVVLIIGCCPGGTASNILAYW
Mouse IMPLTGFILSVASGILPVQA VVVLIMGCCPGGTGSNILAYW
Rat IMPLTGFILSVASGILPVQA VVVLIMGCCPGGTGSNILAYW
Rabbit IMPLTGFVLAVAFGIMPIQA VVVLIMGCCPGGTASNILAYW
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 – 348 Ileal sodium/bile acid cotransporter
83 – 103 Helical
Analysis of the ileal bile acid transporter gene, SLC10A2, in subjects with familial hypertriglyceridemia.
Love M.W.; Craddock A.L.; Angelin B.; Brunzell J.D.; Duane W.C.; Dawson P.A.;
Arterioscler. Thromb. Vasc. Biol. 21:2039-2045(2001)
Cited for: VARIANTS ILE-98; ILE-159 AND ALA-171;
Absence of dysfunctional ileal sodium-bile acid cotransporter gene mutations in patients with adult-onset idiopathic bile acid malabsorption.
Montagnani M.; Love M.W.; Rossel P.; Dawson P.A.; Qvist P.;
Scand. J. Gastroenterol. 36:1077-1080(2001)
Cited for: VARIANTS ILE-98 AND ALA-171;
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.