current
AK2:c.548T>A (p.Leu183Ter) AND Reticular dysgenesis
current
classified by single submitter
Pathogenic
germline
human
not provided
curation
In a female from a consanguineous family affected with reticular dysgenesis (267500), Lagresle-Peyrou et al. (2009) identified a 1-bp deletion of C at nucleotide 523 in exon 6 of the AK2 gene (523delC), resulting in a substitution of a termination codon for a leucine at codon 183 (L183X). This mutation was not detected in her sister and each parent was found to be a carrier.
19043416
AK2:c.548T>A (p.Leu183Ter)
NM_013411.4:c.548T>A
LRG_133:g.28539T>A
NG_016269.1:g.28539T>A
NC_000001.10:g.33478954A>T
NR_037591.1:n.749T>A
NP_037543.1:p.Leu183Ter
STOP-GAIN
L183*
LEU183TER
1p35
adenylate kinase 2
AK2
Reticular dysgenesis
ALEUKOCYTOSIS
HEMATOPOIETIC HYPOPLASIA, GENERALIZED
RETICULAR DYSGENESIA
RD
Neonatal/infancy
<1 / 1 000 000
current
pathogenic
germline
human
not provided
curation
In a female from a consanguineous family affected with reticular dysgenesis (267500), Lagresle-Peyrou et al. (2009) identified a 1-bp deletion of C at nucleotide 523 in exon 6 of the AK2 gene (523delC), resulting in a substitution of a termination codon for a leucine at codon 183 (L183X). This mutation was not detected in her sister and each parent was found to be a carrier.
19043416
AK2, LEU183TER
LEU183TER
AK2
RETICULAR DYSGENESIS