UniProtKB/Swiss-Prot O00337: Variant p.Arg510Cys

Sodium/nucleoside cotransporter 1
Gene: SLC28A1
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Variant information Variant position:

510 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 Cysteine (C) at position 510 (R510C, p.Arg510Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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:

All three alleles (A, B and C) have similar nucleoside transport activity. Additional information on the polymorphism described.
Variant description:

In allele A; affects urinary excretion of uridine and cytidine; changed N-glycosylation; increased protein degradation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2242047 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GIKLFLNEFVAYQDLSKYKQ R RLAGAEEWVGDRKQWISVRA 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                         GIKLFLNEFVAYQDLSKYKQRRLAGAEEWVGDRKQWISVRA

Mouse                         GIKLFLNEFVAYQELSQYKQRRLAGAEEWLGDKKQWISVRA

Rat                           GIKFFLNEFVAYQELSQYKQRRLAGAEEWLGDKKQWISVRA

Pig                           GMKLFLNEFVAYQELSGYKQRRLAGAEEWVGSRKQWISVRA

Rabbit                        GIKFFTNEFVAYQQLSQYKKKRLSGMEEWIDGQKQWISVRA

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 – 649	Sodium/nucleoside cotransporter 1
Topological domain	480 – 534	Extracellular
Alternative sequence	176 – 649	Missing. In isoform 2.

Literature citations
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANTS A VAL-140 INS AND CYS-510; Deficiency of perforin and hCNT1, a novel inborn error of pyrimidine metabolism, associated with a rapidly developing lethal phenotype due to multi-organ failure.
Perez-Torras S.; Mata-Ventosa A.; Droegemoeller B.; Tarailo-Graovac M.; Meijer J.; Meinsma R.; van Cruchten A.G.; Kulik W.; Viel-Oliva A.; Bidon-Chanal A.; Ross C.J.; Wassermann W.W.; van Karnebeek C.D.M.; Pastor-Anglada M.; van Kuilenburg A.B.P.;
Biochim. Biophys. Acta 1865:1182-1191(2019)
Cited for: INVOLVEMENT IN URCTU; FUNCTION; TRANSPORTER ACTIVITY; GLYCOSYLATION; VARIANT URCTU GLN-561; VARIANT CYS-510; CHARACTERIZATION OF VARIANT URCTU GLN-561; CHARACTERIZATION OF VARIANT CYS-510;

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.