From: Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencing
Alteration | Nature of alteration | Status of alteration | Location of alteration | residue | Patient number |
---|---|---|---|---|---|
C->T; Gln-Stp | Causative | Known | 5762 | 1852 | 01 & 01S |
exon 39 | Â | Â | Â | Â | Â |
Del 11 bases | Causative | Unknown | 6056–6066 | 1950–1953 | 02 |
exon 41 | Â | Â | Â | Â | Â |
Del exon 21 | Causative | N/A | Â | Â | 03 |
G->T; Splice | Causative | Unknown | 738+1 | Â | 04 |
destroyed ex6 | Â | Â | Â | Â | Â |
C->T; Arg- | Causative | Unknown | 3359 | 1051 | 07 |
>Stp exon 23 | Â | Â | Â | Â | Â |
G->A Splice | Causative | Unknown | 10015+5 | Â | 08 |
destroyed 67 | Â | Â | Â | Â | Â |
C->T;Arg- | Neutral | Known | 6671 | 2155 | 03 |
>Trp ex45 | Â | Â | Â | Â | Â |
G->A;Arg- | Neutral | Known | 5442 | 1745 | 05,06,08 |
>His ex37 | Â | Â | Â | Â | Â |
A->G;Gln- | Neutral | Known | 9018 | 2937 | 05,06 |
>Arg ex59 | Â | Â | Â | Â | Â |
C->T;Arg- | Neutral | Known | 6779 | 2191 | 06 |
>Trp ex45 | Â | Â | Â | Â | Â |
G->A;Gly- | Neutral | Known | 2853 | 882 | 08 |
>Asp21 ex21 | Â | Â | Â | Â | Â |
A->G;Arg- | Silent2 | Unknown | 1843 | 545 | 05,08 |
>Arg ex14 | Â | Â | Â | Â | Â |
G->A;Ser- | Silent | Known | 3229 | 1007 | 08 |
>Ser ex23 | Â | Â | Â | Â | Â |
CC->GA | Intronic | Unknown | 1040–18 |  | 04 |
before ex09 | Â | Â | Â | Â | Â |
G->T before | Intronic | Unknown | 1691–123 |  | 04,05 |
ex13 | Â | Â | Â | Â | Â |
T->C before | Intronic | Unknown | 1913–57 |  | 05,08 |
ex15 | Â | Â | Â | Â | Â |
T->C before | Intronic | Unknown | 6326–150 |  | 05 |
ex 43 | Â | Â | Â | Â | Â |
G->T after | Intronic | Unknown | 6822+25 | Â | 06,08 |
ex45 | Â | Â | Â | Â | Â |
T->C after | Intronic | Unknown | 2376+17 | Â | 06 |
ex17 | Â | Â | Â | Â | Â |
10A's->8A's | Intronic | Unknown | 6130+69 | Â | 06,08 |
after ex41 | Â | Â | Â | Â | Â |
T->C before | Intronic | Unknown | 2377–96 |  | 08 |
ex18 | Â | Â | Â | Â | Â |
C->T after | Polymorphic | Known | 8235+11 | Â | 03 |
ex54 | Â | Â | Â | Â | Â |
G->A before | Polymorphic | Known | 1691–110 |  | 04,05 |
ex13 | Â | Â | Â | Â | Â |
C->G after | Polymorphic | Known | 7408+53 | Â | 04 |
ex49 | Â | Â | Â | Â | Â |
T->C before | Polymorphic | Known | 1691–72 |  | 05 |
ex13 | Â | Â | Â | Â | Â |
A->T before | Polymorphic | Known | 6326–63 |  | 05 |
ex43 | Â | Â | Â | Â | Â |
C->T after | Polymorphic | Known | 9857+15 | Â | 06 |
ex66 | Â | Â | Â | Â | Â |