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UniProtKB/Swiss-Prot Q06187: Variant p.Arg288Trp

Tyrosine-protein kinase BTK
Gene: BTK
Variant information

Variant position:  288
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Tryptophan (W) at position 288 (R288W, p.Arg288Trp).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In XLA.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.

Sequence information

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.

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.




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.

Chain 2 – 659 Tyrosine-protein kinase BTK
Domain 281 – 377 SH2
Mutagenesis 307 – 307 R -> K. Loss of phosphorylation of GTF2I.
Helix 288 – 298

Literature citations

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)

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;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.