Variant position: 360 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 619 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 ADIELGCGNFGSVRQGVYRM RKKQIDVAIKVLKQGTEKADT
Mouse ADIELGCGNFGSVRQGVYRM RKKQIDVAIKVLKQGTEKADK
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
1 – 619 Tyrosine-protein kinase ZAP-70
338 – 600 Protein kinase
369 – 369 ATP
362 – 362 K -> E. Increases constitutive kinase activity on LAT phosphorylation, strongly increases subcellular localization of CD69 at the cell surface and decreases autoinhibition conformation.
A novel human autoimmune syndrome caused by combined hypomorphic and activating mutations in ZAP-70.
Chan A.Y.; Punwani D.; Kadlecek T.A.; Cowan M.J.; Olson J.L.; Mathes E.F.; Sunderam U.; Fu S.M.; Srinivasan R.; Kuriyan J.; Brenner S.E.; Weiss A.; Puck J.M.;
J. Exp. Med. 213:155-165(2016)
Cited for: VARIANTS ADMIO2 TRP-192 AND PRO-360; CHARACTERIZATION OF VARIANTS ADMIO2 TRP-192 AND PRO-360; INVOLVEMENT IN ADMIO2; INTERACTION WITH CD247; MUTAGENESIS OF ARG-37; ARG-190; 315-TYR--TYR-319; ASP-327 AND LYS-362;
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.