Variant: rs121908715 

    present in Gene: ADA;PKIG
    present in Chromosome: 20
    Position on Chromosome: 44620391
    Alleles of this Variant: G/A

rs121908715 in ADA;PKIG gene and SCID Due to ADA Deficiency, Early-Onset PMID 7599635 1995 Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

PMID 1346349 1992 Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA--patients with severe combined immunodeficiency (ADA-SCID).

PMID 26376800 2015 Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

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 2773932 1989 A high proportion of ADA point mutations associated with a specific alanine-to-valine substitution.

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 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 9758612 1998 Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

PMID 8299233 1994 Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

PMID 9361033 1997 An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

PMID 8614422 1996 Brief report: hepatic dysfunction as a complication of adenosine deaminase deficiency.

PMID 6208479 1984 Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.

PMID 3475710 1987 Mutations in the human adenosine deaminase gene that affect protein structure and RNA splicing.

PMID 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.

PMID 3182793 1988 Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.

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 3839802 1985 Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.