Variant position: 465 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 VSMGMKYLEEKNFVHRDLAA RNVLLVNRHYAKISDFGLSKA
Mouse VAMGMKYLEEKNFVHRDLAA RNVLLVNRHYAKISDFGLSKA
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
461 – 461 Proton acceptor
461 – 461 D -> N. Abolishes kinase activity.
479 – 479 D -> N. Abolishes kinase activity.
464 – 466
Specific immunoglobulin E responses in ZAP-70-deficient patients are mediated by Syk-dependent T-cell receptor signalling.
Toyabe S.; Watanabe A.; Harada W.; Karasawa T.; Uchiyama M.;
Cited for: VARIANT IMD48 HIS-465;
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