present in Gene: PKIG;ADA
present in Chromosome: 20
Position on Chromosome: 44621103
Alleles of this Variant: G/A;T
rs121908718 in
PKIG;ADA gene and
SCID Due to ADA Deficiency, Early-Onset
PMID 10200056 1998 Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.
PMID 9361033 1997 An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.
PMID 3839802 1985 Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.
PMID 8299233 1994 Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).
PMID 6208479 1984 Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.
PMID 3182793 1988 Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.
PMID 7599635 1995 Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.
PMID 2783588 1989 Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.
PMID 8227344 1993 Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.
PMID 1284479 1992 Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.
PMID 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.