UniProtKB/Swiss-Prot Q14916: Variant p.Thr269Ile

Sodium-dependent phosphate transport protein 1
Gene: SLC17A1
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Variant information Variant position:

269 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 Threonine (T) to Isoleucine (I) at position 269 (T269I, p.Thr269Ile). 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 (T) to medium size and hydrophobic (I) 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
Variant description:

Increased urate transport. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1165196 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SRQSLPIKAILKSLPVWAIS T GSFTFFWSHNIMTLYTPMFI 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                         SRQSLPIKAILKSLPVWAIS----TGSFTFFWSHNIMTL--YTPMFI

Mouse                         GRQSLPIKAMLKSLPLWAII----LNSFAFIWSNSLLVT--

Rat                           GRQSLPIKAMLKSLPLWAII----LNSFAFIWSNNLLVT--

Rabbit                        TRQSLPIKAMIKSLPLWAIS----FCCFAYLWTYSRLIV--

Baker's yeast                 RRRSLKAQDLIMQGIMKAVNGNPDRNKSLLLGTSNILFAKK

Fission yeast                 RRRDPHTQEIVLQGLMKAQEDF--KGPGSFLGTSNVYFAAK

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 – 467	Sodium-dependent phosphate transport protein 1
Transmembrane	257 – 277	Helical
Alternative sequence	246 – 299	Missing. In isoform 2.

Literature citations
Molecular cloning of the cDNA encoding a human renal sodium phosphate transport protein and its assignment to chromosome 6p21.3-p23.
Chong S.S.; Kristjansson K.; Zoghbi H.Y.; Hughes M.R.;
Genomics 18:355-359(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ILE-269; Cloning and functional expression of a Na(+)-dependent phosphate co-transporter from human kidney: cDNA cloning and functional expression.
Miyamoto K.; Tatsumi S.; Sonoda T.; Yamamoto H.; Minami H.; Taketani Y.; Takeda E.;
Biochem. J. 305:81-85(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 2-467 (ISOFORM 1); VARIANT ILE-269; FUNCTION; TRANSPORTER ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES; TISSUE SPECIFICITY; NPT1/SLC17A1 is a renal urate exporter in humans and its common gain-of-function variant decreases the risk of renal underexcretion gout.
Chiba T.; Matsuo H.; Kawamura Y.; Nagamori S.; Nishiyama T.; Wei L.; Nakayama A.; Nakamura T.; Sakiyama M.; Takada T.; Taketani Y.; Suma S.; Naito M.; Oda T.; Kumagai H.; Moriyama Y.; Ichida K.; Shimizu T.; Kanai Y.; Shinomiya N.;
Arthritis Rheum. 67:281-287(2015)
Cited for: VARIANT ILE-269; CHARACTERIZATION OF VARIANT ILE-269; FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; Expression of a human NPT1/SLC17A1 missense variant which increases urate export.
Sakiyama M.; Matsuo H.; Nagamori S.; Ling W.; Kawamura Y.; Nakayama A.; Higashino T.; Chiba T.; Ichida K.; Kanai Y.; Shinomiya N.;
Nucleosides Nucleotides Nucleic Acids 35:536-542(2016)
Cited for: VARIANT ILE-269; CHARACTERIZATION OF VARIANT ILE-269; SUBCELLULAR LOCATION; FUNCTION; TRANSPORTER ACTIVITY;

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.