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UniProtKB/Swiss-Prot Q9P1W8: Variant p.Val263Ala

Signal-regulatory protein gamma
Gene: SIRPG
Variant information

Variant position:  263
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Valine (V) to Alanine (A) at position 263 (V263A, p.Val263Ala).
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 hydrophobic (V) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  263
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  387
The length of the canonical sequence.

Location on the sequence:   NLSEAIRVPPTLEVTQQPMR  V GNQVNVTCQVRKFYPQSLQL
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.

TypePositionsDescription
Chain 29 – 387 Signal-regulatory protein gamma
Topological domain 29 – 360 Extracellular
Domain 252 – 340 Ig-like C1-type 2
Glycosylation 243 – 243 N-linked (GlcNAc...) asparagine
Glycosylation 268 – 268 N-linked (GlcNAc...) asparagine
Alternative sequence 144 – 360 Missing. In isoform 3.
Alternative sequence 250 – 360 Missing. In isoform 4.
Beta strand 262 – 279


Literature citations

Molecular cloning of a novel human gene (SIRP-B2) which encodes a new member of the SIRP/SHPS-1 protein family.
Ichigotani Y.; Matsuda S.; Machida K.; Oshima K.; Iwamoto T.; Yamaki K.; Hayakawa T.; Hamaguchi M.;
J. Hum. Genet. 45:378-382(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); TISSUE SPECIFICITY; VARIANTS ALA-263 AND LEU-286;

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.