Variant position: 126 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:
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 GLYQCQSLHGSEADTLRKVL VEVLADPLDHRDAGDLWFPGE
Mouse GLYQCQSLRGREAEVLQKVL VEVLEDPLDDQDAGDLWVPEE
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
19 – 230 Triggering receptor expressed on myeloid cells 2
19 – 174 Extracellular
117 – 129
The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2.
Kluenemann H.H.; Ridha B.H.; Magy L.; Wherrett J.R.; Hemelsoet D.M.; Keen R.W.; De Bleecker J.L.; Rossor M.N.; Marienhagen J.; Klein H.E.; Peltonen L.; Paloneva J.;
Cited for: INVOLVEMENT IN PLOSL2; VARIANTS PLOSL2 33-GLN--THR-230 DEL AND GLY-126;
Neurodegeneration-associated mutant TREM2 proteins abortively cycle between the ER and ER-Golgi intermediate compartment.
Sirkis D.W.; Aparicio R.E.; Schekman R.;
Mol. Biol. Cell 28:2723-2733(2017)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS CYS-38 AND MET-66; CHARACTERIZATION OF VARIANTS PLOSL2 GLY-126; GLY-134 AND ASN-186;
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.;
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;
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