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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UIR0: Variant p.Ala202Val

Butyrophilin-like protein 2
Gene: BTNL2
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Variant information Variant position: help 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Valine (V) at position 202 (A202V, p.Ala202Val). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Polymorphism: help The sequence shown corresponds to the translation of the reference genome assembly (GRCh38/hg38) with Ser at position 360. This variant p.Gly360Ser is associated with an increased risk for sarcoidosis. Additional information on the polymorphism described.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 202 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 482 The length of the canonical sequence.
Location on the sequence: help GEKLLAVSEHRIQDKDGLFY A EATLVVRNASAESVSCLVHN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GEKLLAVSEHRIQDKDGLFYAEATLVVRNASAESVSCLVHN

Mouse                         GEKLMSFSENHVPGEDGLFYVEDTLMVRNDSVETISCFIYS

Rat                           GEKLMSLSENHVYGEDGLFSVEDTLVVRNDSVETISCFIYN

Sequence annotation in neighborhood: help 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 1 – 482 Butyrophilin-like protein 2
Topological domain 24 – 482 Extracellular
Domain 142 – 234 Ig-like V-type 2
Glycosylation 210 – 210 N-linked (GlcNAc...) asparagine
Disulfide bond 164 – 218
Alternative sequence 28 – 237 Missing. In isoform 4.
Alternative sequence 72 – 482 Missing. In isoform 8.
Alternative sequence 143 – 236 Missing. In isoform 2 and isoform 3.



Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.