Variant position: 288 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 YVTEAEDSIEMYEWYSKHMT RSQAEQLLKQEGKEGGFIVRD
Mouse YITEAEDSIEMYEWYSKHMT RSQAEQLLKQEGKEGGFIVRD
Chicken YVTATSNSLEIYEWYSKNIT RSQAEQLLKQEGKEGGFIVRD
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.
Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
Bradley L.A.D.; Sweatman A.K.; Lovering R.C.; Jones A.M.; Morgan G.; Levinsky R.J.; Kinnon C.;
Hum. Mol. Genet. 3:79-83(1994)
Cited for: VARIANTS XLA TRP-288; GLY-307; ASP-607 AND SER-VAL-PHE-SER-SER-THR-ARG-103 INS;
Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice.
de Weers M.; Mensink R.G.J.; Kraakman M.E.M.; Schuurman R.K.B.; Hendriks R.W.;
Hum. Mol. Genet. 3:161-166(1994)
Cited for: VARIANTS XLA HIS-28 AND TRP-288;
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
Vorechovsky I.; Vihinen M.; de Saint Basile G.; Honsova S.; Hammarstroem L.; Mueller S.; Nilsson L.; Fischer A.; Smith C.I.E.;
Hum. Mol. Genet. 4:51-58(1995)
Cited for: VARIANTS XLA SER-25; TRP-288; MET-370; VAL-509; PRO-525; LYS-526; TRP-562; VAL-582 AND ARG-594;
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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