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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H221: Variant p.Arg543Ser

ATP-binding cassette sub-family G member 8
Gene: ABCG8
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Variant information Variant position: help 543
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Serine (S) at position 543 (R543S, p.Arg543Ser).
Physico-chemical properties: help Change from large size and basic (R) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In STSL1; decreased maturation of glycan chains.
Other resources: help


Sequence information Variant position: help 543
Protein sequence length: help 673
Location on the sequence: help PGLQPFLLHFLLVWLVVFCC R IMALAAAALLPTFHMASFFS
Residue conservation: help 
Human                         PGLQPFLLHFLLVWLVVFCCRIMALAAAALLPTFHMASFFS

Mouse                         PVPELFLLHFLLVWLVVFCCRTMALAASAMLPTFHMSSFFC

Rat                           PGPELFLLHFMLLWLVVFCCRTMALAASAMLPTFHMSSFCC

Slime mold                    MDAGRFFFAVLVYSFIHSLSTFFISSLANLTGTSDLTFSYA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 673 ATP-binding cassette sub-family G member 8
Transmembrane 528 – 548 Helical; Name=4
Domain 411 – 665 ABC transmembrane type-2
Helix 526 – 552



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; 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.