The UMD-TREAT_DMD mutations database
Val to Insertion mutations

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Met124AsnfsX14
c.368dup
6
123
Actin binding domain
Small rearrangement
Stop at 137
1   
p.Val436GlyfsX3
c.1306dup
11
436
CRD-repeat #1
Small rearrangement
Stop at 438
1   
p.Val515GlyfsX4
c.1543dup
13
515
CRD-repeat #2
Small rearrangement
Stop at 518
1   
p.Val516GlyfsX3
c.1544dup
13
515
CRD-repeat #2
Small rearrangement
Stop at 518
1   
p.Leu1306AlafsX5
c.3914dup
28
1305
CRD-repeat #9
Small rearrangement
Stop at 1310
1   
p.Pro2470ThrfsX21
c.7406dup
51
2469
CRD-hinge region #3
Small rearrangement
Fr.
Stop at 2490
1   
p.Val3035GlyfsX8
c.9097_9103dup
61
3035
CRD-repeat #24
Small rearrangement
Fr.
Stop at 3042
1