|| common in clinvar
[PMID 17433] [Inhibition of 4-aminobutyrate transaminase by ethanolamine-O-sulfate].
[PMID 10900158] Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.
[PMID 10982185] Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.
[PMID 11668610] Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.
[PMID 17456055] Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.
[PMID 20132407] Perspectives for the use of structural information and chemical genetics to develop inhibitors of Janus kinases.
|| Low clinical importance, Likely benign
|| Reported in ClinVar to cause Severe Combined Immunodeficiency Disease (aka "bubble boy disease"). However the variant is carried by nearly 1 in 100 individuals with European ancestry, and 1 in 12,000 are predicted to be homozygous. The disease is extremely rare -- highest estimate is 1 in 50,000 -- the high frequency of this variant means it cannot be a cause of this disease.