The UMD-DMD France mutations database
Record ID: 1596

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.IVS25+2036A>G (c.3432+2036A>G)HemizygousMutation

wt codonwt aamutant codonmutant aamutational eventmutation type
CAGGlnspl+2036Spl.A->GTs

StructureKey Residue (HCD)Pyrimidin doubletCpG
 Yes, non coding strand

Mutation impact


At the mRNA levelOn restriction map
r.[=, 3432_3433ins3432+2037_3432+2131]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 (%)
Cryptic Acceptor?
CTTTTCCTACAAGTA
68.6 _
CTTTTCCTACAGGTA
97.6 _ *
29.7 %

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
 Irregular Medium Irregular Low 
Western Blot
dys 1 dys 2 dys 3
   

Patient and sample data


Sample IDPatient statusGenderTransmissionAge of onsetAge of deathGeographic origin
---228-2-31ProbandMaleMosaic (somatic)FRANCE

Phenotypic group
 BMD

Reference


Reference IDPubMed IDReference
10412754707
Tuffery-Giraud S, Saquet C, Chambert S, Claustres M. Pseudoexon activation in the DMD gene as a novel mechanism for Becker muscular dystrophy. Hum Mutat. 2003, 21(6):608-14.