The UMD-DMD France mutations database
Record ID: 727

Mutation description

Variation name (cDNA level)Variation name (protein level)Variation statusVariation class

wt codonwt aamutant codonmutant aamutational eventmutation type
ATGMetdel11055aStop at 5InF

StructureKey Residue (HCD)Pyrimidin doubletCpG
Dp427m unique N-Ter 

Mutation impact

At the mRNA levelOn restriction map
New restriction site(s): none
Lost restriction site(s): none

On isoforms (a blue cell indicates that the corresponding isoform is affected by the mutation)
Dp 427cDp 427mDp 427pDp 260Dp 140Dp 116Dp 71
dys 1 dys 2 dys 3
Western Blot
dys 1 dys 2 dys 3

Patient and sample data

Sample IDPatient statusGenderTransmissionAge of onsetAge of deathGeographic origin

Phenotypic group


Reference IDPubMed IDReference
Chelly J, Marlhens F, Dutrillaux B, Van Ommen GJ, Lambert M, Haioun B, Boissinot G, Fardeau M, Kaplan JC. Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia. Hum Genet. 1988 Mar;78(3):222-7.