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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H221: Variant p.Gly574Glu

ATP-binding cassette sub-family G member 8
Gene: ABCG8
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Variant information Variant position: help 574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Glycine (G) to Glutamate (E) at position 574 (G574E, p.Gly574Glu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In STSL1; strongly decreased maturation of glycan chains. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 574 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 673 The length of the canonical sequence.
Location on the sequence: help PTFHMASFFSNALYNSFYLA G GFMINLSSLWTVPAWISKVS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         PTFHMASFFSNALYNSFYLAGGFMINLSSLWTVPAWISKVS

Mouse                         PTFHMSSFFCNALYNSFYLTAGFMINLDNLWIVPAWISKLS

Rat                           PTFHMSSFCCNALYNSFYLTAGFMINLNNLWIVPAWISKMS

Slime mold                    GTSDLTFSYASSLSVVFMLFAGFYVPTNELPRAFGWLHWVN
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 673 ATP-binding cassette sub-family G member 8
Transmembrane 556 – 576 Helical; Name=5
Domain 411 – 665 ABC transmembrane type-2



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.