Variant position: 243 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 APKLWIIGTIFPVAGYSLGF LLARIAGLPWYRCRTVAFETG
Mouse EPKLWIIGTIFPIAGYSLGF FLARLAGQPWYRCRTVALETG
Rat EPKLWIIGTIFPIAGYSLGF FLARLAGQPWYRCRTVALETG
Rabbit EPKLWIIGTIFPMAGYSLGF FLARIAGQPWYRCRTVALETG
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
225 – 245 Helical
Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).
Oelkers P.; Kirby L.C.; Heubi J.E.; Dawson P.A.;
J. Clin. Invest. 99:1880-1887(1997)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PBAM PRO-243 AND MET-262; VARIANT 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.