Variant position: 146 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 QDCFSYVLQSDTLLSSLTVR ETLHYT-ALLAIRRGNPGSFQK
Mouse QDCFSYVLQSDVFLSSLTVR ETLRYT-AMLALCRSSADFYN
Rat QDCVSYLLQSDVFLSSLTVR ETLRYT-AMLALRSSSADFYD
Slime mold HRDISYVTQDDIHVPTLTVK ETFRFALDCLGKKELTREEKQ
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
1 – 383 Cytoplasmic
52 – 293 ABC transporter
1 – 395 Missing. In isoform 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 STSL2 GLN-146; HIS-389; PRO-419; HIS-419 AND SER-550; VARIANT GLU-604;
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 STSL2 GLN-146; HIS-389; PRO-419; HIS-419 AND LYS-437; 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.