The UMD-DMD France mutations database
Record ID: 1621

Mutation description

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

wt codonwt aamutant codonmutant aamutational eventmutation type
TATTyrins233bFs.Stop at 103Fr.

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
  No signal 
Western Blot
dys 1 dys 2 dys 3

Patient and sample data

Sample IDPatient statusGenderTransmissionAge of onsetAge of deathGeographic origin
---101-3-31ProbandMaleDe novoFRANCE

Phenotypic group


Reference IDReference
106Unpublished data