UniProtKB/Swiss-Prot Q9H222: Variant p.Cys600Tyr

ATP-binding cassette sub-family G member 5
Gene: ABCG5
Chromosomal location: 2p21
Variant information

Variant position:  600
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Cysteine (C) to Tyrosine (Y) at position 600 (C600Y, p.Cys600Tyr).
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:  Change from medium size and polar (C) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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



Sequence information

Variant position:  600
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:   FYGLNFTCGSSNVSVTTNPM  C AFTQGIQFIEKTCPGATSRF
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                         FYGLNFTCGSSNVSVTTNPMCAFTQGIQFIEKT-CP---GATSRF

Mouse                         FYGLNFTCGGSNTSMLNHPMCAITQGVQFIEKT-CP---GA

Rat                           FYGLNFTCGGSNTSVPNNPMCSMTQGIQFIEKT-CP---GA

Slime mold                    FTGLTFVCTNNKGAV---PIPIIENGVQIAIKYYCPITNGD

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.

TypePositionsDescription
Chain 1 – 651 ATP-binding cassette sub-family G member 5
Topological domain 550 – 623 Extracellular
Domain 388 – 645 ABC transmembrane type-2
Glycosylation 584 – 584 N-linked (GlcNAc...)
Glycosylation 591 – 591 N-linked (GlcNAc...)


Literature citations

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: VARIANT STSL LYS-437; VARIANTS VAL-523; TYR-600; GLU-604 AND VAL-622;

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.