The UMD-DMD France mutations database
Record ID: 2104

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.397C>Tp.Gln133X

wt codonwt aamutant codonmutant aamutational eventmutation type
CAAGlnTAAStopC->TTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
Actin binding domain NoNo

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
       
Immunofluorescence
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
---MD_FR#F692050AM41ProbandMFR

Phenotypic group
 

Reference


Reference IDReference
0Unpublished data