The UMD-TREAT_DMD mutations database
Ser to Deletion mutations

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Ser319HisfsX16
c.955delT
9
319
CRD-hinge region #1
Small rearrangement
Fr.
Stop at 334
1   
p.Ser521ArgfsX61
c.1563_1566delTGGA
13
521
CRD-repeat #2
Small rearrangement
Fr.
Stop at 581
1   
p.Ser576GlnfsX7
c.1726delT
15
576
CRD-repeat #3
Small rearrangement
Fr.
Stop at 582
1   
p.Ser733AlafsX27
c.2197delA
18
733
CRD-repeat #4
Small rearrangement
Fr.
Stop at 759
1   
p.Pro745X
c.2230_2231delAG
18
744
CRD-repeat #4
Small rearrangement
Fr.
Stop at 745
3   
p.Asp758ThrfsX2
c.2271delA
18
757
CRD-repeat #4
Small rearrangement
Fr.
Stop at 759
1   
p.Ser800ArgfsX9
c.2400delC
20
800
CRD-repeat #4
Small rearrangement
Fr.
Stop at 808
1   
p.Arg811LeufsX6
c.2430_2443del
20
810
CRD-repeat #4
Small rearrangement
Fr.
Stop at 816
1   
p.Ser987LysfsX20
c.2960_2979del
23
987
CRD-repeat #6
Small rearrangement
Fr.
Stop at 1006
1   
p.Ser1033LeufsX5
c.3097_3098delTC
23
1033
CRD-repeat #6
Small rearrangement
Fr.
Stop at 1037
1   
p.Ser1316X
c.3947_3948delCA
29
1316
CRD-repeat #9
Small rearrangement
Fr.
Stop at 1316
1   
p.Ser1513LysfsX2
c.4538_4541delGTGA
33
1513
CRD-repeat #11
Small rearrangement
Fr.
Stop at 1514
2   
p.Thr1734SerfsX10
c.5199_5209del
37
1733
CRD-repeat #13
Small rearrangement
Fr.
Stop at 1743
1   
p.Ser1758ArgfsX14
c.5272_5273delTC
37
1758
CRD-repeat #13
Small rearrangement
Fr.
Stop at 1771
1   
p.Ser1902TyrfsX10
c.5704_5707delAGCC
40
1902
CRD-repeat #15
Small rearrangement
Fr.
Stop at 1911
3   
p.Ser1994PhefsX8
c.5981delC
42
1994
CRD-repeat #16
Small rearrangement
Fr.
Stop at 2001
1   
p.Leu2465X
c.7392delC
51
2464
CRD-hinge region #3
Small rearrangement
Fr.
Stop at 2465
1   
p.Glu2681LeufsX44
c.8034_8037delTGAG
55
2678
CRD-repeat #21
Small rearrangement
Fr.
Stop at 2724
1   
p.His2799GlnfsX3
c.8392_8402del
57
2798
CRD-repeat #22
Small rearrangement
Fr.
Stop at 2801
1   
p.Ser2813PhefsX11
c.8438delC
57
2813
CRD-repeat #23
Small rearrangement
Fr.
Stop at 2823
1   
p.Ser3054ProfsX35
c.9160delT
61
3054
CRD-hinge region #4
Small rearrangement
Fr.
Stop at 3088
1   
p.Ser3225GlnfsX58
c.9673delT
67
3225
Cystein-rich domain
Small rearrangement
Fr.
Stop at 3282
1   
p.Ser3343LeufsX34
c.10027delT
69
3343
Carboxy-terminal region
Small rearrangement
Fr.
Stop at 3376
1   
p.Ser3497ProfsX2
c.10489delT
74
3497
Carboxy-terminal region
Small rearrangement
Fr.
Stop at 3498
1   
p.Ser3500ArgfsX14
c.10500_10501delTG
74
3500
Carboxy-terminal region
Small rearrangement
Fr.
Stop at 3513
1