Sequence information
Variant position: 19 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:
MAGKAAEERGLPKGATPQ
D TSGLQDRLFSSESDNSLYFT
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 MAGKAAEERGLPKGATPQD TS-GLQDRL--FSSESDNSLYFT
Mouse MAEKTKEETQLWNGTVLQD ASQGLQDSL--FSSESDNSL
Rat MAEKTKEETQLWNGTVLQD AS-SLQDSV--FSSESDNSL
Slime mold MELETIEYNKSFNICENGD SK-GVQLTFKNISYKVENKN
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 – 673
ATP-binding cassette sub-family G member 8
Topological domain
1 – 416
Cytoplasmic
Literature citations
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;
A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease.
Buch S.; Schafmayer C.; Voelzke H.; Becker C.; Franke A.; von Eller-Eberstein H.; Kluck C.; Baessmann I.; Brosch M.; Lammert F.; Miquel J.F.; Nervi F.; Wittig M.; Rosskopf D.; Timm B.; Hoell C.; Seeger M.; ElSharawy A.; Lu T.; Egberts J.; Faendrich F.; Foelsch U.R.; Krawczak M.; Schreiber S.; Nuernberg P.; Tepel J.; Hampe J.;
Nat. Genet. 39:995-999(2007)
Cited for: VARIANT HIS-19; INVOLVEMENT IN GBD4;
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.