Variant position: 295 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 SIEMYEWYSKHMTRSQAEQL LKQEGKEGGFIVRDS-SKAGKY
Mouse SIEMYEWYSKHMTRSQAEQL LKQEGKEGGFIVRDS-SKAGK
Chicken SLEIYEWYSKNITRSQAEQL LKQEGKEGGFIVRDSTSKTGK
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.
Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
Schuster V.; Seidenspinner S.; Kreth H.W.;
Am. J. Med. Genet. 63:318-322(1996)
Cited for: VARIANT XLA PRO-295;
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
Holinski-Feder E.; Weiss M.; Brandau O.; Jedele K.B.; Nore B.; Baeckesjoe C.-M.; Vihinen M.; Hubbard S.R.; Belohradsky B.H.; Smith C.I.E.; Meindl A.;
Cited for: VARIANTS XLA GLU-19; HIS-28; ASN-61; PRO-117; HIS-127; ARG-155; PRO-295; PHE-369; GLY-372; ARG-414; TYR-506; GLY-521; GLN-525; SER-559; TRP-562; GLU-594; THR-619; GLY-626 AND HIS-641;
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