Variant position: 596 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 FMINLSSLWTVPAWISKVSF LRWCFEGLMKIQFSRRTYKMP
Mouse FMINLDNLWIVPAWISKLSF LRWCFSGLMQIQFNGHLYTTQ
Rat FMINLNNLWIVPAWISKMSF LRWCFSGLMQIQFNGHIYTTQ
Slime mold FYVPTNELPRAFGWLHWVNP AFYGYSSVVINQFEDLQLKCT
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
577 – 639 Extracellular
411 – 665 ABC transmembrane type-2
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 STSL 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 STSL 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;
Missense mutations in ABCG5 and ABCG8 disrupt heterodimerization and trafficking.
Graf G.A.; Cohen J.C.; Hobbs H.H.;
J. Biol. Chem. 279:24881-24888(2004)
Cited for: CHARACTERIZATION OF VARIANTS STSL HIS-184; THR-231; GLN-263; PRO-501; SER-543; GLU-574 AND ARG-596; FUNCTION;
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.