The UMD-DMD France mutations database
Record ID: 8568

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.IVS35-2A>G (c.5026-2A>G)Mutation

wt codonwt aamutant codonmutant aamutational eventmutation type
GAAGluspl-2Spl.A->GTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
 No

Mutation impact


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

Impact on splicing
Splice site type Wild type sequence CV Mutant type sequence CV Variation (%)
Acceptor
tgtacaattaagGA
76.3 _
tgtacaattaggGA
47.4 _ *
-37.9 %

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_DE#659F1AF1-A820-4EEProbandMDE

Phenotypic group
 

Reference


Reference IDReference
0Unpublished data