The UMD-TREAT_DMD mutations database
Glu to Insertion mutations

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Glu65ArgfsX24
c.192dup
4
65
Actin binding domain
Small rearrangement
Fr.
Stop at 88
1   
p.Glu323GlyfsX4
c.967dup
10
323
CRD-hinge region #1
Small rearrangement
Stop at 326
1   
p.Thr418MetfsX10
c.1248insagaaatga
11
416
CRD-repeat #1
Small rearrangement
Fr.
Stop at 427
1   
p.Glu432GlyfsX7
c.1294dup
11
432
CRD-repeat #1
Small rearrangement
Stop at 438
2   
p.Glu476GlyfsX7
c.1426dup
12
476
CRD-repeat #2
Small rearrangement
Stop at 482
1   
p.Glu579ArgfsX13
c.1734dup
15
579
CRD-repeat #3
Small rearrangement
Stop at 591
1   
p.Glu692GlyfsX28
c.2074dup
17
692
CRD-hinge region #2
Small rearrangement
Stop at 719
1   
p.Glu1668GlnfsX5
c.5000_5001dup
35
1668
CRD-repeat #12
Small rearrangement
Fr.
Stop at 1672
1   
p.Asp2944SerfsX6
c.8822ins13
59
2941
CRD-repeat #24
Small rearrangement
Fr.
Stop at 2949
1   
p.Met3545AlafsX11
c.10603_10631dup
75
3544
Carboxy-terminal region
Small rearrangement
Fr.
Stop at 3555
3