Variant position: 910 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1124 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 SYGPGRQSLRLVMEYLPSGC LRDFLQRHRARLDASRLLLYS
Mouse SYGPGRQSLRLVMEYLPSGC LRDFLQRHRARLHTDRLLLFA
Rat SYGPGRQSLRLVMEYLPSGC LRDFLQRHRARLHNDRLLLFA
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
1 – 1124 Tyrosine-protein kinase JAK3
822 – 1111 Protein kinase 2
904 – 904 Phosphotyrosine
620 – 1124 Missing. In isoform 3.
904 – 904 Y -> F. About 40% loss of STAT5a activation.
910 – 917
Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
Schumacher R.F.; Mella P.; Badolato R.; Fiorini M.; Savoldi G.; Giliani S.; Villa A.; Candotti F.; Tampalini A.; O'Shea J.J.; Notarangelo L.D.;
Hum. Genet. 106:73-79(2000)
Cited for: VARIANTS T(-)B(+)NK(-) SCID ARG-151 AND SER-910; VARIANT ILE-722;
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