UniProtKB/Swiss-Prot Q9UNQ0: Variant p.Ser572Arg

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

572 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 Serine (S) to Arginine (R) at position 572 (S572R, p.Ser572Arg). 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 small size and polar (S) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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.
Variant description:

Decreased protein abundance; loss of localization to the plasma membrane. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs200894058 [ dbSNP | Ensembl ]

Sequence information Variant position:

572 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:

SGLLVNLTTIASWLSWLQYF S IPRYGFTALQHNEFLGQNFC 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                         SGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFC------------

Rhesus macaque                SGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFC

Mouse                         SGLLVNLRTIGPWLSWLQYFSIPRYGFTALQYNEFLGQEFC

Rat                           SGLLVNLRTIGPWLSWLQYFSIPRYGFTALQHNEFLGQEFC

Pig                           SGLLVNLKTVVPWLSWLQYFSIPRYGFSALQYNEFLGQNFC

Bovine                        SGLLVNLKTVVPWLSWLQYLSIPRYGYAALQHNEFLGQNFC

Slime mold                    SGFMAPKRSIGGWWIWIYWISPIKYAFEGLMSNEHHGLIYS

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	557 – 630	Extracellular
Domain	389 – 651	ABC transmembrane type-2
Site	557 – 557	Not glycosylated
Alternative sequence	550 – 611	IFSGLLVNLTTIASWLSWLQYFSIPRYGFTALQHNEFLGQNFCPGLNATGNNPCNYATCTGE -> VCWSISQPLHLGCHGFSTSAFHDMDLRLCSIMNFWDKTSAQDSMQQETILVTMQHVLAKNIW. In isoform 2.
Mutagenesis	554 – 554	L -> A. No effect on stability. Increased estrone-3 sulfate ATPase-coupled transmembrane transporter activity. Increased basal and substrate-induced ATP hydrolysis. Increased substrate transport.
Mutagenesis	555 – 555	L -> A. Loss of protein expression.
Mutagenesis	557 – 557	N -> Q. No effect.
Mutagenesis	583 – 583	H -> A. Strongly reduced binding to hemin but not to PPIX.

Literature citations
Functional Characterization of Clinically-Relevant Rare Variants in ABCG2 Identified in a Gout and Hyperuricemia Cohort.
Toyoda Y.; Mancikova A.; Krylov V.; Morimoto K.; Pavelcova K.; Bohata J.; Pavelka K.; Pavlikova M.; Suzuki H.; Matsuo H.; Takada T.; Stiburkova B.;
Cells 8:0-0(2019)
Cited for: VARIANTS TRP-147; MET-153; LYS-360 DEL; CYS-373; ALA-421; MET-434; PRO-476; ARG-572 AND ASN-620; CHARACTERIZATION OF VARIANTS LYS-141; TRP-147; MET-153; LYS-360 DEL; CYS-373; ALA-421; MET-434; PRO-476; ARG-572 AND ASN-620; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;

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.