UniProtKB/Swiss-Prot Q9UIR0: Variant p.Ser360Gly

Butyrophilin-like protein 2
Gene: BTNL2
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Variant information Variant position:

360 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 Serine (S) to Glycine (G) at position 360 (S360G, p.Ser360Gly). 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 polar (S) to glycine (G) 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
Polymorphism:

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:

Links to websites of interest for the variant.

Variant rs2076530 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RCLFEKDDVYQEASLDLKVV S LGSSPLITVEGQEDGEMQPM 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                         RCLFEKDDVYQEASLDLKVVSLGSSPLITVEGQEDGEMQPM

Mouse                         RCLFGKDGVYQEARVDVQVMAVGSTPRITREVLKDGGMQLR

Rat                           RCLFGKDGVYQEARVDVQVMAVGSTPQITREVLKDGGTQLR

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 – 482	Butyrophilin-like protein 2
Topological domain	24 – 482	Extracellular
Alternative sequence	72 – 482	Missing. In isoform 8.
Alternative sequence	360 – 364	SLGSS -> WVLPH. In isoform 3.

Literature citations
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 4 AND 8); VARIANT GLY-360;

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.