Variant position: 520 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 EMCKDVCEAMEYLESKQFLH RDLAARNCLVNDQGVVKVSDF
Mouse EMCKDVCEAMEYLESKQFLH RDLAARNCLVNDQGVVKVSDF
Chicken EMCKDVCEAMEYLESKQFLH RDLAARNCLVNDQGIVKVSDF
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
521 – 521 Proton acceptor
538 – 538 Inhibitor
539 – 539 Inhibitor; via amide nitrogen
Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
Hagemann T.L.; Chen Y.; Rosen F.S.; Kwan S.-P.;
Hum. Mol. Genet. 3:1743-1749(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS XLA SER-334; ARG-506; GLN-520; TRP-562 AND LYS-630;
Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
Conley M.E.; Fitch-Hilgenberg M.E.; Cleveland J.L.; Parolini O.; Rohrer J.;
Hum. Mol. Genet. 3:1751-1756(1994)
Cited for: VARIANTS XLA ASP-113; CYS-361; GLN-520; PRO-542; TRP-562; LYS-630 AND PRO-652;
Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
Vihinen M.; Vetrie D.; Maniar H.S.; Ochs H.D.; Zhu Q.; Vorechovsky I.; Webster A.D.B.; Notarangelo L.D.; Nilsson L.; Sowadski J.M.; Smith C.I.E.;
Proc. Natl. Acad. Sci. U.S.A. 91:12803-12807(1994)
Cited for: VARIANTS XLA GLU-430; GLN-520; GLN-525; PRO-562; VAL-582; GLY-589; GLU-594 AND ASP-613;
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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