UniProtKB/Swiss-Prot Q9UNQ0: Variant p.Ile206Leu

Broad substrate specificity ATP-binding cassette transporter ABCG2
Gene: ABCG2
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Variant information Variant position:

206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Isoleucine (I) to Leucine (L) at position 206 (I206L, p.Ile206Leu). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Polymorphism:

Genetic variations in ABCG2 define the blood group Junior system (JR) [MIM:614490]. Individuals with Jr(a-) blood group lack the Jr(a) antigen on their red blood cells. These individuals may have anti-Jr(a) antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. Although the clinical significance of the Jr(a-) blood group has been controversial, severe fatal hemolytic disease of the newborn has been reported. The Jr(a-) phenotype has a higher frequency in individuals of Asian descent, compared to those of European descent. The Jr(a-) phenotype is inherited as an autosomal recessive trait.Genetic variations in ABCG2 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 1 (UAQTL1) [MIM:138900]. Excess serum accumulation of uric acid can lead to the development of gout, a common disorder characterized by tissue deposition of monosodium urate crystals as a consequence of hyperuricemia (PubMed:18834626, PubMed:19506252, PubMed:20368174). - Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs12721643 [ dbSNP | Ensembl ]

Sequence information Variant position:

206 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

655 The length of the canonical sequence.
Location on the sequence:

VSGGERKRTSIGMELITDPS I LFLDEPTTGLDSSTANAVLL 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                         VSGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVLL

Rhesus macaque                VSGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVLL

Mouse                         ISGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVLL

Rat                           ISGGERKRTSIGMELITDPSILFLDEPTTGLDSSTANAVLL

Pig                           VSGGERKRTSIAMELITDPSILFLDEPTTGLDSSTANAVLL

Bovine                        VSGGERKRTSIAMELITDPSILFLDEPTTGLDSSTANAVLL

Slime mold                    VSGGQKKRVTIGVEMVKDAGLFLMDEPSTGLDSTTTLELMK

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 – 655	Broad substrate specificity ATP-binding cassette transporter ABCG2
Topological domain	1 – 395	Cytoplasmic
Domain	37 – 286	ABC transporter
Binding site	211 – 211
Mutagenesis	211 – 211	E -> Q. Decreased estrone-3 sulfate ATPase-coupled transmembrane transporter activity. Decreased substrate-induced ATP hydrolysis. Decreased substrate transport.
Beta strand	205 – 211

Literature citations
Natural allelic variants of breast cancer resistance protein (BCRP) and their relationship to BCRP expression in human intestine.
Zamber C.P.; Lamba J.K.; Yasuda K.; Farnum J.; Thummel K.; Schuetz J.D.; Schuetz E.G.;
Pharmacogenetics 13:19-28(2003)
Cited for: VARIANTS MET-12; LYS-141; LEU-206 AND TYR-590;

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.