Variant position: 157 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 DAGDLWFPGESESFEDAHVE HSISRSLLEGEIPFPPTSILL
Mouse DAGDLWVPEESSSFEGAQVE HSTSRN---QETSFPPTSILL
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
157 – 158 Cleavage of ectodomain
A rare coding variant in TREM2 increases risk for Alzheimer's disease in Han Chinese.
Jiang T.; Tan L.; Chen Q.; Tan M.S.; Zhou J.S.; Zhu X.C.; Lu H.; Wang H.F.; Zhang Y.D.; Yu J.T.;
Neurobiol. Aging 42:E1-E3(2016)
Cited for: VARIANTS TYR-157 AND THR-192; VARIANTS CYS-183 AND CYS-200 (ISOFORM 2);
An Alzheimer-associated TREM2 variant occurs at the ADAM cleavage site and affects shedding and phagocytic function.
Schlepckow K.; Kleinberger G.; Fukumori A.; Feederle R.; Lichtenthaler S.F.; Steiner H.; Haass C.;
EMBO Mol. Med. 9:1356-1365(2017)
Cited for: SUBCELLULAR LOCATION; PROTEOLYTIC PROCESSING; CHARACTERIZATION OF VARIANT TYR-157;
TREM2 shedding by cleavage at the H157-S158 bond is accelerated for the Alzheimer's disease-associated H157Y variant.
Thornton P.; Sevalle J.; Deery M.J.; Fraser G.; Zhou Y.; Staahl S.; Franssen E.H.; Dodd R.B.; Qamar S.; Gomez Perez-Nievas B.; Nicol L.S.; Eketjaell S.; Revell J.; Jones C.; Billinton A.; St George-Hyslop P.H.; Chessell I.; Crowther D.C.;
EMBO Mol. Med. 9:1366-1378(2017)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; PROTEOLYTIC PROCESSING; CHARACTERIZATION OF VARIANT TYR-157;
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.