UniProtKB/Swiss-Prot Q9Y336 : Variant p.Ala315Glu
Sialic acid-binding Ig-like lectin 9
Gene: SIGLEC9
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Variant information
Variant position:
315
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 Alanine (A) to Glutamate (E) at position 315 (A315E, p.Ala315Glu).
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 small size and hydrophobic (A) to medium size and acidic (E)
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.
Sequence information
Variant position:
315
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
463
The length of the canonical sequence.
Location on the sequence:
CPSQPSNPGVLELPWVHLRD
A AEFTCRAQNPLGSQQVYLNV
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.
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
18 – 463
Sialic acid-binding Ig-like lectin 9
Topological domain
18 – 348
Extracellular
Domain
236 – 336
Ig-like C2-type 2
Glycosylation
334 – 334
N-linked (GlcNAc...) asparagine
Disulfide bond
272 – 320
Literature citations
Molecular cloning of a novel gene, FOAP-9, which are induced by oxydized LDL in human macrophages.
Takayama K.; Fujii Y.; Turitani K.; Naitou K.; Kawaguchi A.; Ukai Y.; Amemiya C.; Yajima Y.; Yazaki M.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLU-315;
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]; VARIANTS GLU-100 AND GLU-315;
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.