Variant position: 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 673 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 NSLYFTYSGQPNTLEVRDLN YQ----------------------VDLASQVPWFEQLAQFKMP
Mouse NSLYFTYSGQSNTLEVRDLT YQ-------------------
Rat NSLYFTYSGQSNTLEVRDLT YQGGTCLRSWGQEDPHMSLGL
Slime mold NKNYNKNKKEKNKNKI-DPE F--------------------
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 – 673 ATP-binding cassette sub-family G member 8
1 – 416 Cytoplasmic
47 – 313 ABC transporter
Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.
Berge K.E.; Tian H.; Graf G.A.; Yu L.; Grishin N.V.; Schultz J.; Kwiterovich P.; Shan B.; Barnes R.; Hobbs H.H.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; VARIANTS STSL1 THR-231; GLN-263; ARG-574 AND ARG-596; VARIANT CYS-54;
Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.
Lu K.; Lee M.-H.; Hazard S.; Brooks-Wilson A.; Hidaka H.; Kojima H.; Ose L.; Stalenhoef A.F.H.; Mietinnen T.; Bjorkhem I.; Bruckert E.; Pandya A.; Brewer H.B. Jr.; Salen G.; Dean M.; Srivastava A.K.; Patel S.B.;
Am. J. Hum. Genet. 69:278-290(2001)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORMS 1 AND 2); FUNCTION; TISSUE SPECIFICITY; VARIANTS STSL1 HIS-184; THR-231; LYS-238; GLN-263; HIS-405; PRO-501; SER-543; PHE-570 DEL; PRO-572; ARG-574; GLU-574 AND ARG-596; VARIANTS HIS-19; CYS-54; VAL-259; LYS-400; ARG-575 AND ALA-632;
Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia.
Hubacek J.A.; Berge K.E.; Cohen J.C.; Hobbs H.H.;
Hum. Mutat. 18:359-360(2001)
Cited for: VARIANTS HIS-19; CYS-54; LYS-400; ALA-632 AND PHE-641;
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: VARIANTS CYS-54 AND LYS-400;
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