UniProtKB/Swiss-Prot P52333: Variant p.Val722Ile

Tyrosine-protein kinase JAK3
Gene: JAK3
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Variant information Variant position:

722 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Valine (V) to Isoleucine (I) at position 722 (V722I, p.Val722Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs3213409 [ dbSNP | Ensembl ]

Sequence information Variant position:

722 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:

LSLEADKWGFGATVWEVFSG V TMPISALDPAKKLQFYEDRQ 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                         LSLEADKWGFGATVWEVFSGVTMPISALDPAKKLQFYEDRQ

Mouse                         LCLEADKWGFGATTWEVFSGGPAHITSLEPAKKLKFYEDQG

Rat                           LNLEADKWGFGATTWEVFSGAPMHITSLEPAKKLKFYEDRG

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
Chain	1 – 1124	Tyrosine-protein kinase JAK3
Domain	521 – 781	Protein kinase 1
Alternative sequence	620 – 1124	Missing. In isoform 3.

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS THR-132 AND ILE-722; 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; Janus kinase 3 (JAK3) deficiency: clinical, immunologic, and molecular analyses of 10 patients and outcomes of stem cell transplantation.
Roberts J.L.; Lengi A.; Brown S.M.; Chen M.; Zhou Y.-J.; O'Shea J.J.; Buckley R.H.;
Blood 103:2009-2018(2004)
Cited for: VARIANTS T(-)B(+)NK(-) SCID ALA-58 DEL; GLU-169 AND SER-589; VARIANT ILE-722; Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] LEU-12; HIS-40; THR-132; ARG-151; VAL-521; PRO-527; PHE-688 AND ILE-722;

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.