The UMD-TREAT_DMD mutations database
Arg to Insertion mutations

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Arg48GlufsX41
c.141dup
3
48
Actin binding domain
Small rearrangement
Stop at 88
1   
p.Gln945LeufsX25
c.2829insTTAT
22
943
CRD-repeat #6
Small rearrangement
Fr.
Stop at 969
1   
p.Arg1719AsnfsX10
c.5155insAATATAG
37
1719
CRD-repeat #13
Small rearrangement
Fr.
Stop at 1728
1   
p.Arg1865GlufsX23
c.5592dup
40
1865
CRD-repeat #14
Small rearrangement
Fr.
Stop at 1887
1   
p.Arg2556GlufsX21
c.7666insGA
53
2556
CRD-repeat #20
Small rearrangement
Fr.
Stop at 2576
1   
p.Arg2600ThrfsX15
c.7797_7798dup
53
2600
CRD-repeat #21
Small rearrangement
Fr.
Stop at 2614
1   
p.Arg2631ProfsX12
c.7891dup
54
2631
CRD-repeat #21
Small rearrangement
Fr.
Stop at 2642
1   
p.Arg3107LysfsX5
c.9320insAA
64
3107
CRD-hinge region #4
Small rearrangement
Stop at 3111
1   
p.Arg3195HisfsX89
c.9584insAT
66
3195
Cystein-rich domain
Small rearrangement
Fr.
Stop at 3283
1