UniProtKB/Swiss-Prot Q6GTX8: Variant p.Asp63Glu

Leukocyte-associated immunoglobulin-like receptor 1
Gene: LAIR1
Feedback?

Variant information Variant position:

63 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 Glutamate (E) at position 63 (D63E, p.Asp63Glu). 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:

Similar physico-chemical property. Both residues are medium size and acidic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs3745442 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

SHVTFVCRGPVGVQTFRLER D SRSTYNDTEDVSQASPSESE 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                         SHVTFVCRGPVG---VQTFRLERDSRSTYNDTEDVSQASPSESE

Mouse                         TFVTVVCSYSDKHDLYNMVRLEKDG-STFME----KSTEPY

Rat                           NFITIVCSTSGE---YDTVRLEKEG-STFME----KKTEPH

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	22 – 287	Leukocyte-associated immunoglobulin-like receptor 1
Topological domain	22 – 165	Extracellular
Domain	29 – 117	Ig-like C2-type
Glycosylation	69 – 69	N-linked (GlcNAc...) asparagine
Disulfide bond	49 – 101
Helix	63 – 65

Literature citations
LAIR-1, a novel inhibitory receptor expressed on human mononuclear leukocytes.
Meyaard L.; Adema G.J.; Chang C.; Woollatt E.; Sutherland G.R.; Lanier L.L.; Phillips J.H.;
Immunity 7:283-290(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; GLYCOSYLATION; SUBCELLULAR LOCATION; DOMAIN ITIM MOTIF; INTERACTION WITH PTPN6 AND PTPN11; VARIANTS GLU-63; SER-92; PRO-98 AND THR-123; Leukocyte-associated Ig-like receptor-1 functions as an inhibitory receptor on cytotoxic T cells.
Meyaard L.; Hurenkamp J.; Clevers H.; Lanier L.L.; Phillips J.H.;
J. Immunol. 162:5800-5804(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); FUNCTION; SUBCELLULAR LOCATION; VARIANTS GLU-63; SER-92 AND PRO-98; Identification and characterization of leukocyte-associated Ig-like receptor-1 as a major anchor protein of tyrosine phosphatase SHP-1 in hematopoietic cells.
Xu M.-J.; Zhao R.; Zhao Z.J.;
J. Biol. Chem. 275:17440-17446(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4); FUNCTION; PHOSPHORYLATION AT TYR-251 AND TYR-281; MUTAGENESIS OF TYR-251 AND TYR-281; INTERACTION WITH PTPN6; VARIANTS GLU-63; SER-92; PRO-98 AND THR-123; Cloning of human full open reading frames in Gateway(TM) system entry vector (pDONR201).
Halleck A.; Ebert L.; Mkoundinya M.; Schick M.; Eisenstein S.; Neubert P.; Kstrang K.; Schatten R.; Shen B.; Henze S.; Mar W.; Korn B.; Zuo D.; Hu Y.; LaBaer J.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANTS GLU-63; SER-92; PRO-98 AND THR-123; 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 GLU-63; SER-92; PRO-98 AND THR-123;

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.