UniProtKB/Swiss-Prot Q9NZC2: Variant p.Thr96Lys

Triggering receptor expressed on myeloid cells 2
Gene: TREM2
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Variant information Variant position:

96 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 Threonine (T) to Lysine (K) at position 96 (T96K, p.Thr96Lys). 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 (T) to large size and basic (K) 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
Variant description:

Does not change protein structure; changes protein stability; increases binding to THP-1 cells. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs2234253 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RRWNGSTAITDDTLGGTLTI T LRNLQPHDAGLYQCQSLHGS 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                         RRWNGSTAITDDTLGGTLTITLRNLQPHDAGLYQCQSLHGS

Mouse                         KKRNGSTVIADDTLAGTVTITLKNLQAGDAGLYQCQSLRGR

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	19 – 230	Triggering receptor expressed on myeloid cells 2
Topological domain	19 – 174	Extracellular
Domain	29 – 112	Ig-like V-type
Binding site	77 – 77
Binding site	88 – 88
Glycosylation	79 – 79	N-linked (GlcNAc...) asparagine
Disulfide bond	36 – 110
Mutagenesis	76 – 76	R -> D. Decreases binding to THP-1 cells.
Mutagenesis	77 – 77	R -> D. Decreases binding to THP-1 cells.
Beta strand	92 – 99

Literature citations
Neurodegenerative disease mutations in TREM2 reveal a functional surface and distinct loss-of-function mechanisms.
Kober D.L.; Alexander-Brett J.M.; Karch C.M.; Cruchaga C.; Colonna M.; Holtzman M.J.; Brett T.J.;
Elife 5:E20391-E20391(2016)
Cited for: X-RAY CRYSTALLOGRAPHY (3.10 ANGSTROMS) OF 19-133; DISULFIDE BONDS; SUBUNIT; SUBCELLULAR LOCATION; MUTAGENESIS OF ASN-68; ARG-76 AND ARG-77; GLYCOSYLATION AT ASN-79; CHARACTERIZATION OF VARIANTS CYS-38; HIS-47; HIS-62; MET-66; ASN-87 AND LYS-96; CHARACTERIZATION OF VARIANT PLOSL2 GLY-126;

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.