Variant position: 544 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 659 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 ARNCLVNDQGVVKVSDFGLS RYVLDDEYTSSVGSKFPVRWS
Mouse ARNCLVNDQGVVKVSDFGLS RYVLDDEYTSSVGSKFPVRWS
Chicken ARNCLVNDQGIVKVSDFGLS RYVLDDEYTSSMGSKFPVRWS
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
2 – 659 Tyrosine-protein kinase BTK
402 – 655 Protein kinase
538 – 538 Inhibitor
539 – 539 Inhibitor; via amide nitrogen
542 – 542 Inhibitor; via carbonyl oxygen
551 – 551 Phosphotyrosine; by LYN and SYK
551 – 551 Y -> F. Loss of phosphorylation of GTF2I.
542 – 545
Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
Kobayashi S.; Iwata T.; Saito M.; Iwasaki R.; Matsumoto H.; Naritaka S.; Kono Y.; Hayashi Y.;
Hum. Genet. 97:424-430(1996)
Cited for: VARIANTS XLA TRP-288; LYS-544 AND PRO-592;
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