Variant position: 33 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 RSQQKKKTSPLNFKKRLFLL TVHKLSYYEYDFERGRRGSKK
Mouse RSQQKKKTSPLNFKKRLFLL TVHKLSYYEYDFERGRRGSKK
Chicken RSQQKKKTSPLNFKKRLFLL TESKLSYYEYDFERGRRGSKK
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
3 – 133 PH
26 – 26 Inositol-(1,3,4,5)-tetrakisphosphate
28 – 28 Inositol-(1,3,4,5)-tetrakisphosphate
39 – 39 Inositol-(1,3,4,5)-tetrakisphosphate
53 – 53 Inositol-(1,3,4,5)-tetrakisphosphate; via carbonyl oxygen
21 – 21 Phosphoserine
40 – 40 Phosphotyrosine
41 – 41 E -> K. No effect on phosphorylation of GTF2I.
Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
Zhu Q.; Zhang M.; Winkelstein J.; Chen S.-H.; Ochs H.D.;
Hum. Mol. Genet. 3:1899-1900(1994)
Cited for: VARIANTS XLA HIS-28; PRO-33; PRO-408; GLY-589; ASP-613 AND 260-GLN--GLU-280 DEL;
Mutation analysis in Bruton's tyrosine kinase, the X-linked agammaglobulinaemia gene, including identification of an insertional hotspot.
Gaspar H.B.; Bradley L.A.D.; Katz F.; Lovering R.C.; Roifman C.M.; Morgan G.; Levinsky R.J.; Kinnon C.;
Hum. Mol. Genet. 4:755-757(1995)
Cited for: VARIANTS XLA PRO-33; GLY-302 DEL; GLN-520 AND CYS-641;
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