UniProtKB/Swiss-Prot Q9NQ25: Variant p.His175Tyr

SLAM family member 7
Gene: SLAMF7
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Variant information Variant position:

175 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 Histidine (H) to Tyrosine (Y) at position 175 (H175Y, p.His175Tyr). 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 polar (H) to large size and aromatic (Y) 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 rs35325048 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HGEEDVIYTWKALGQAANES H NGSILPISWRWGESDMTFIC 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                         HGEEDVIYTWKALGQAANESHNGSILPISWRWGESDMTFIC

Mouse                         QDGENVTYSWKAVGQGDNQFHDGATLSIAWRSGEKDQALTC

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	23 – 335	SLAM family member 7
Topological domain	23 – 226	Extracellular
Domain	131 – 206	Ig-like C2-type
Glycosylation	172 – 172	N-linked (GlcNAc...) asparagine
Glycosylation	176 – 176	N-linked (GlcNAc...) asparagine
Disulfide bond	145 – 215
Disulfide bond	151 – 195
Alternative sequence	126 – 256	Missing. In isoform 6.
Alternative sequence	166 – 335	Missing. In isoform 4.

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.