Variant position: 307 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 TRSQAEQLLKQEGKEGGFIV RDS-SKAGKYTVSVFAKSTGDP
Mouse TRSQAEQLLKQEGKEGGFIV RDS-SKAGKYTVSVFAKSTGE
Chicken TRSQAEQLLKQEGKEGGFIV RDSTSKTGKYTVSVYAKSAVD
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
281 – 377 SH2
307 – 307 R -> K. Loss of phosphorylation of GTF2I.
303 – 308
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;
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