Variant: rs121918549 

    present in Gene: AAAS
    present in Chromosome: 12
    Position on Chromosome: 53321423
    Alleles of this Variant: G/A;T

rs121918549 in AAAS gene and Glucocorticoid deficiency with achalasia PMID 12429595 2002 Clinical and genetic characterization of families with triple A (Allgrove) syndrome.

PMID 15666842 2004 To examine the cellular localization of ALADIN mutants causing triple A syndrome, we investigated nine different ALADIN-mutants: 2 nonsense (W84X, Q456X), 2 frameshift (F157fsX171, G397fsX414) and 5 point mutations (Q15K, L25P, H160R, S263P, L381R) by transfection experiments with green fluorescence protein.

PMID 18615337 2008 Triple A syndrome mimicking ALS.

PMID 11159947 2001 Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

PMID 16609705 2006 Cellular localization of 17 natural mutant variants of ALADIN protein in triple A syndrome - shedding light on an unexpected splice mutation.

PMID 22538409 2012 Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

PMID 11701718 2001 A novel point mutation, 43C-->A(Gln15Lys), in exon 1 of the AAAS gene was identified in the homozygote state in a Canadian AS kindred with a milder AS phenotype.