The
UMD-DMD France
mutations database
3 small rearrangements at position 757
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Ser757X
c.2270C>G
18
757
CRD-repeat #4
Small rearrangement
Tv
C->G
2
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
12994
---MD_JP#20121022-01
M
JP
0
7721
---MD_CN_HOSP#159
M
CN
0
p.Asp758ThrfsX2
c.2271delA
18
757
CRD-repeat #4
Small rearrangement
Fr.
Stop at 759
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
7449
---MD_CN_HOSP#297
M
CN
0