The UMD-DMD France mutations database
Record ID: 1511

Mutation description


Variation name (cDNA level)Variation name (protein level)Variation statusVariation class
c.IVS74-2A>G (c.10554-2A>G)HemizygousMutation

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

StructureKey Residue (HCD)Pyrimidin doubletCpG
 

Mutation impact


At the mRNA levelOn restriction map
r.[=, 10554_10797del, 10554_10857del]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
tgatgccaatagGA
78 _
tgatgccaatggGA
49.1 _ *
-37.1 %

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

Patient and sample data


Sample IDPatient statusGenderTransmissionAge of onsetAge of deathGeographic origin
---133-8-01ProbandMaleUnknownFRANCE

Phenotypic group
 BMD

Reference


Reference IDPubMed IDReference
10510533061
Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat. 1999, 14(5):359-68.