UniProtKB/Swiss-Prot Q13336: Variant p.Thr319Met

Urea transporter 1
Gene: SLC14A1
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Variant information Variant position:

319 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 Methionine (M) at position 319 (T319M, p.Thr319Met). 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 (M) 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:

SLC14A1 is responsible for the Kidd blood group system (JK) [MIM:111000]. JK is defined by 2 alleles, JK*01 and JK*02 that give rise to Jk(a) and Jk(b) antigens respectively. The molecular basis of the Jk(a)/Jk(b) antigens is a single variation in position 280; Asp-280 corresponds to Jk(a) and Asn-280 to Jk(b). Some individuals carry silenced JK*01 and JK*02 alleles, designated JK*01N or JK*02N. They results in a Jk(null) phenotype associated with reduced urea permeability of red blood cells. Jk(null) is not associated with any obvious clinical syndrome except for a urine concentration defect. Additional information on the polymorphism described.
Variant description:

In Jk(null). Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs565898944 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GMFMALTWQTHLLALGCALF T AYLGVGMANFMAEVGLPACT 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                         GMFMALTWQTHLLALGCALFTAYLGVGMANFMAEVGLPACT

Mouse                         GMFMALTWQTHLLALACALFTAYFGACMAHLMAVVHLPACT

Rat                           GMFMALTWQTHLLALACALFTAYFGACMTHLMAAVHLPACT

Bovine                        GTFMALTWQTHLLALACALFTAYLGASMSHVMAVVGLPSGT

Goat                          GMFMALTWQTHLLALACALFTAYLGASMSHVMAVVGLPSCT

Sheep                         GMFMALTWQTHLLALACALFTAYLGASMSHVMAVVGLPSCT

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 – 389	Urea transporter 1
Transmembrane	310 – 330	Helical
Site	339 – 339	Important for channel permeability
Helix	306 – 331

Literature citations
Erythroid urea transporter deficiency due to novel JKnull alleles.
Wester E.S.; Johnson S.T.; Copeland T.; Malde R.; Lee E.; Storry J.R.; Olsson M.L.;
Transfusion 48:365-372(2008)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 52-113; 222-257 AND 317-332; VARIANT JK(NULL) MET-319;

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.