Sequence information
Variant position: 331 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1621 The length of the canonical sequence.
Location on the sequence:
LSLVALAFLMSILVKKSFLT
G LVVFLLTVFWGCLGFTSLYR
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 LSLVALAFLMSILVKKSFLTG LVVFLLTVFWGCLGFTSLYR
Slime mold ISSSSMAFFMLTFIGK----- --------------------
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
Chain
1 – 1621
ABC-type organic anion transporter ABCA8
Transmembrane
327 – 347
Helical
Alternative sequence
267 – 1621
Missing. In isoform 2.
Literature citations
Catalog of 605 single-nucleotide polymorphisms (SNPs) among 13 genes encoding human ATP-binding cassette transporters: ABCA4, ABCA7, ABCA8, ABCD1, ABCD3, ABCD4, ABCE1, ABCF1, ABCG1, ABCG2, ABCG4, ABCG5, and ABCG8.
Iida A.; Saito S.; Sekine A.; Mishima C.; Kitamura Y.; Kondo K.; Harigae S.; Osawa S.; Nakamura Y.;
J. Hum. Genet. 47:285-310(2002)
Cited for: VARIANT SER-331;
Disclaimer:
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.