The
UMD-DMD France
mutations database
2 small rearrangements at position 45
Request ID: DMD
Protein nomenclature
cDNA Nomenclature
Exon
Codon
Structure
HCD
Rearrangement
Mutation type
Mutational event
# records
p.Gln45X
c.133C>T
3
45
Actin binding domain
Small rearrangement
Ts
C->T
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
15081
---MD_UK#22
M
UK
0
p.Gln45ArgfsX7
c.134delA
3
45
Actin binding domain
Small rearrangement
Fr.
Stop at 51
1
UMD_id
Sample ID
Gender
Mutation status
Geographic origin
Phenotypic group
References
13912
---MD_PL#PL/1996-11-22/DMD/328
M
PL
0