UniProtKB/Swiss-Prot Q13336: Variant p.Gly299Glu

Urea transporter 1
Gene: SLC14A1
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Variant information Variant position:

299 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 Glycine (G) to Glutamate (E) at position 299 (G299E, p.Gly299Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 rs538368217 [ dbSNP | Ensembl ]

Sequence information Variant position:

299 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:

EDIYFGLWGFNSSLACIAMG G MFMALTWQTHLLALGCALFT 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                         EDIYFGLWGFNSSLACIAMGGMFMALTWQTHLLALGCALFT

Mouse                         EDIYFGLWGFNSSLACIAIGGMFMALTWQTHLLALACALFT

Rat                           KDIYSGLWGFNSSLACIAIGGMFMALTWQTHLLALACALFT

Bovine                        EDIYAGLWGFNSSLACIAIGGTFMALTWQTHLLALACALFT

Goat                          ENIYAGLWGFNSSLACIAIGGMFMALTWQTHLLALACALFT

Sheep                         ENIYAGLWGFNSSLACIAIGGMFMALTWQTHLLALACALFT

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	281 – 301	Helical
Turn	298 – 300

Literature citations
Two novel Jk(null) alleles derived from 222C>A in Exon 5 and 896G>A in Exon 9 of the JK gene.
Liu H.M.; Lin J.S.; Chen P.S.; Lyou J.Y.; Chen Y.J.; Tzeng C.H.;
Transfusion 49:259-264(2009)
Cited for: VARIANTS JK(NULL) LYS-74; VAL-167 AND GLU-299;

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.