UniProtKB/Swiss-Prot P26715: Variant p.Asn29Ser

NKG2-A/NKG2-B type II integral membrane protein
Gene: KLRC1
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Variant information Variant position:

29 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 Asparagine (N) to Serine (S) at position 29 (N29S, p.Asn29Ser). 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 (N) to small size and polar (S) 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
Other resources:

Links to websites of interest for the variant.

Variant rs2253849 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SDLNLPPNPKRQQRKPKGNK N SILATEQEITYAELNLQKAS 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                         SDLNLPPNPKRQQRKPKGNKNSILATEQEITYAELNLQKAS

Rhesus macaque                SDLNLPPNPKRQQQKPKGNTSSILVTEQEITYAELNLQKTS

Chimpanzee                    SDLNLPPNPKRQQRKPKGNKSSILATEQEITYAELNLQKAS

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 – 233	NKG2-A/NKG2-B type II integral membrane protein
Topological domain	1 – 70	Cytoplasmic
Region	1 – 29	Disordered
Modified residue	40 – 40	Phosphotyrosine
Mutagenesis	38 – 38	I -> A. Decreases interaction with INPP5D/SHIP-1; when associated A-6.
Mutagenesis	40 – 40	Y -> F. Impairs phosphorylation, interaction with INPP5D/SHIP-1 and NK cell functional inhibition; when associated F-8.

Literature citations
DNA sequence analysis of NKG2, a family of related cDNA clones encoding type II integral membrane proteins on human natural killer cells.
Houchins J.P.; Yabe T.; McSherry C.; Bach F.H.;
J. Exp. Med. 173:1017-1020(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS NKG2-A AND NKG2-B); VARIANT SER-29; Genomic structure, chromosome location, and alternative splicing of the human NKG2A gene.
Plougastel B.; Jones T.; Trowsdale J.;
Immunogenetics 44:286-291(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS NKG2-A AND NKG2-B); VARIANT SER-29; Sequence analysis of a 62-kb region overlapping the human KLRC cluster of genes.
Plougastel B.; Trowsdale J.;
Genomics 49:193-199(1998)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS NKG2-A AND NKG2-B); VARIANT SER-29; Identification and characterization of the NKG2A gene from large granular lymphocytic leukemia (LGL) cells.
Kothapalli R.; Kusmartseva I.; Loughran T.P. Jr.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT SER-29; 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 NKG2-A AND NKG2-B); VARIANT SER-29;

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.