Variant position: 550 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 651 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 VNSVVAL-LSIAGVLVGSGFL RNIQEMPIPFKIISYFTFQKY
Mouse VNSIVAL-LSISGLLIGSGFI RNIQEMPIPLKILGYFTFQK
Rat VNSIVAL-LSISGLLIGSGFI RNIEEMPIPLKILGYFTFQK
Slime mold ASTICGIGLSLATLFGG--FV IARPNYPSAYYWCHYLDWLR
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 – 651 ATP-binding cassette sub-family G member 5
550 – 623 Extracellular
388 – 645 ABC transmembrane type-2
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 [MRNA] OF 1-88 (ISOFORM 1); VARIANTS STSL GLN-146; HIS-389; PRO-419; HIS-419 AND SER-550; VARIANT GLU-604;
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.