UniProtKB/Swiss-Prot Q13336: Variant p.Asp280Asn

Urea transporter 1
Gene: SLC14A1
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Variant information Variant position:

280 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 Aspartate (D) to Asparagine (N) at position 280 (D280N, p.Asp280Asn). 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 acidic (D) to medium size and polar (N) 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(b). Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1058396 [ dbSNP | Ensembl ]

Sequence information Variant position:

280 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:

AAIGSLLGIAAGLSLSAPFE D IYFGLWGFNSSLACIAMGGM 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                         AAIGSLLGIAAGLSLSAPFEDIYFGLWGFNSSLACIAMGGM

Mouse                         AAIGSLLGVIAGLSLAAPFEDIYFGLWGFNSSLACIAIGGM

Rat                           AAIGSLLGVIAGLSLAAPFKDIYSGLWGFNSSLACIAIGGM

Bovine                        AAIGSLLGIIAGLSLSAPFEDIYAGLWGFNSSLACIAIGGT

Goat                          AAIGSLLGIIAGLSLSAPFENIYAGLWGFNSSLACIAIGGM

Sheep                         AAIGSLLGIIAGLSLSAPFENIYAGLWGFNSSLACIAIGGM

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
Helix	278 – 282

Literature citations
The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility.
Olives B.; Merriman M.; Bailly P.; Bain S.; Barnett A.; Todd T.; Cartron J.-P.; Merriman T.;
Hum. Mol. Genet. 6:1017-1020(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); POLYMORPHISM; VARIANT JK(B) ASN-280; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LYS-44 AND ASN-280; 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] (ISOFORM 1); VARIANTS VAL-167 AND ASN-280; Missense mutations that result in serological JKnull phenotypes.
Posadas J.B.; Shnyreva M.; Gaur P.; Nakaya S.; Devanaboina M.; Teramura G.; Haile A.; Gaur L.K.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-381; VARIANT ASN-280;

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.