Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H221: Variant p.Arg263Gln

ATP-binding cassette sub-family G member 8
Gene: ABCG8
Feedback?
Variant information Variant position: help 263
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 263 (R263Q, p.Arg263Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In STSL1; strongly decreased maturation of glycan chains.
Other resources: help


Sequence information Variant position: help 263
Protein sequence length: help 673
Location on the sequence: help LDSFTAHNLVKTLSRLAKGN R LVLISLHQPRSDIFRLFDLV
Residue conservation: help 
Human                         LDSFTAHNLVKTLSRLAKGNRLVLISLHQPRSDIFRLFDLV

Mouse                         LDSFTAHNLVTTLSRLAKGNRLVLISLHQPRSDIFRLFDLV

Rat                           LDSFTAHNLVRTLSRLAKGNRLVLISLHQPRSDIFRLFDLV

Slime mold                    LDSVAALQIMKTLLNLTLKGVTVICSIHQPRPEIFQLINKV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 673 ATP-binding cassette sub-family G member 8
Topological domain 1 – 416 Cytoplasmic
Domain 47 – 313 ABC transporter



Literature citations
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.;
Science 290:1771-1775(2000)
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; 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 STSL1 HIS-184; THR-231; GLN-263; PRO-501; SER-543; GLU-574 AND ARG-596; FUNCTION;
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.