The UMD-TREAT_DMD mutations database
Gln to Deletion mutations

Protein nomenclature cDNA Nomenclature Exon Codon Structure HCD Rearrangement Mutation type Mutational event # records
p.Lys18GlufsX13
c.50_51delAA
2
17
Actin binding domain
Small rearrangement
Fr.
Stop at 30
1   
p.Gln45ArgfsX7
c.134delA
3
45
Actin binding domain
Small rearrangement
Fr.
Stop at 51
1   
p.Gln401AsnfsX6
c.1201delC
11
401
CRD-repeat #1
Small rearrangement
Fr.
Stop at 406
1   
p.Gln562AsnfsX21
c.1684delC
14
562
CRD-repeat #3
Small rearrangement
Fr.
Stop at 582
1   
p.Gln673AsnfsX43
c.2017_2027del
17
673
CRD-hinge region #2
Small rearrangement
Fr.
Stop at 715
1   
p.Gln743HisfsX16
c.2229_2232delGAGT
18
743
CRD-repeat #4
Small rearrangement
Fr.
Stop at 758
1   
p.Gly903AspfsX46
c.2706delA
21
902
CRD-repeat #5
Small rearrangement
Fr.
Stop at 948
2   
p.Gln945ArgfsX4
c.2833delC
22
945
CRD-repeat #6
Small rearrangement
Fr.
Stop at 948
1   
p.Gln1367ArgfsX15
c.4100delA
30
1367
CRD-repeat #9
Small rearrangement
Fr.
Stop at 1381
1   
p.Gln1711SerfsX10
c.5131delC
36
1711
CRD-repeat #13
Small rearrangement
Fr.
Stop at 1720
1   
p.Gly1831ArgfsX10
c.5487_5488delAA
39
1829
CRD-repeat #14
Small rearrangement
Fr.
Stop at 1840
1   
p.Gln1851SerfsX14
c.5551delC
39
1851
CRD-repeat #14
Small rearrangement
Fr.
Stop at 1864
1   
p.Thr1856AsnfsX8
c.5565_5568delGACA
39
1855
CRD-repeat #14
Small rearrangement
Fr.
Stop at 1863
1   
p.Arg1868GlufsX6
c.5601delA
40
1867
CRD-repeat #14
Small rearrangement
Fr.
Stop at 1873
2   
p.Arg2098AspfsX16
c.6288delA
43
2096
CRD-repeat #16
Small rearrangement
Fr.
Stop at 2113
1   
p.Gln2131AsnfsX3
c.6391_6392delCA
44
2131
CRD-repeat #17
Small rearrangement
Fr.
Stop at 2133
4   
p.Gln2131HisfsX3
c.6393_6394delAA
44
2131
CRD-repeat #17
Small rearrangement
Fr.
Stop at 2133
1   
p.Gln2269AsnfsX2
c.6805delC
47
2269
CRD-repeat #18
Small rearrangement
Fr.
Stop at 2270
1   
p.Gln2447ThrfsX5
c.7339_7340delCA
51
2447
CRD-hinge region #3
Small rearrangement
Fr.
Stop at 2451
1   
p.Gln2518ArgfsX20
c.7552delC
52
2518
CRD-repeat #20
Small rearrangement
Fr.
Stop at 2537
1   
p.Gln2522ArgfsX16
c.7565delA
52
2522
CRD-repeat #20
Small rearrangement
Fr.
Stop at 2537
1   
p.Gln2625SerfsX13
c.7873delC
54
2625
CRD-repeat #21
Small rearrangement
Fr.
Stop at 2637
2   
p.Gln2634ArgfsX4
c.7901delA
54
2634
CRD-repeat #21
Small rearrangement
Fr.
Stop at 2637
1   
p.Gln3058ArgfsX31
c.9173delA
62
3058
CRD-hinge region #4
Small rearrangement
Fr.
Stop at 3088
1   
p.Val3222TrpfsX61
c.9663delA
67
3221
Cystein-rich domain
Small rearrangement
Fr.
Stop at 3282
1   
p.Gln3493ArgfsX3
c.10478delA
74
3493
Carboxy-terminal region
Small rearrangement
Fr.
Stop at 3495
1