UniProtKB/Swiss-Prot Q9NRM0: Variant p.Arg294His

Solute carrier family 2, facilitated glucose transporter member 9
Gene: SLC2A9
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Variant information Variant position:

294 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 Arginine (R) to Histidine (H) at position 294 (R294H, p.Arg294His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 SLC2A9 influence the variance in serum uric acid concentrations and define the serum uric acid concentration quantitative trait locus 2 (UAQTL2) [MIM:612076] with pronounced sex-specific effects. The proportion of the variance of serum uric acid concentrations explained by genotypes is about 1.2% in men and 6% in women, and the percentage accounted for by expression levels is 3.5% in men and 15% in women (PubMed:18327256, PubMed:18327257, PubMed:18842065). Excess serum accumulation of uric acid can lead to the development of gout (PubMed:18327256, PubMed:18327257). Additional information on the polymorphism described.
Variant description:

No effect on urate transport activity; no effect on protein expression; no effect on glucose transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3733591 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QTFLGKADVSQEVEEVLAES R VQRSIRLVSVLELLRAPYVR 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                         QTFLGKADVSQEVEEVLAESRVQRSIRLVSVLELLRAPYVR

Mouse                         QTFLGKADVSQELEEALAESRVQRNLRLVSVLELLRAPFVR

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 – 540	Solute carrier family 2, facilitated glucose transporter member 9
Topological domain	253 – 316	Cytoplasmic

Literature citations
Acute kidney injury in two children caused by renal hypouricaemia type 2.
Stiburkova B.; Taylor J.; Marinaki A.M.; Sebesta I.;
Pediatr. Nephrol. 27:1411-1415(2012)
Cited for: VARIANTS RHUC2 ARG-216 AND SER-333; VARIANTS ILE-282; HIS-294 AND LEU-350; Complex analysis of urate transporters SLC2A9, SLC22A12 and functional characterization of non-synonymous allelic variants of GLUT9 in the Czech population: no evidence of effect on hyperuricemia and gout.
Hurba O.; Mancikova A.; Krylov V.; Pavlikova M.; Pavelka K.; Stiburkova B.;
PLoS ONE 9:E107902-E107902(2014)
Cited for: CHARACTERIZATION OF VARIANTS ARG-25; MET-169; MET-275; HIS-281; ILE-282; HIS-294 AND LEU-350; Human Mutations in SLC2A9 (Glut9) Affect Transport Capacity for Urate.
Ruiz A.; Gautschi I.; Schild L.; Bonny O.;
Front. Physiol. 9:476-476(2018)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; CHARACTERIZATION OF VARIANTS RHUC2 ARG-75; MET-125; CYS-171; CYS-198; ARG-216; SER-333; TRP-380 AND ARG-412; CHARACTERIZATION OF VARIANTS HIS-294 AND LEU-350; MUTAGENESIS OF CYS-210;

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.