Table 2

Alterations found.

Alteration

Nature of alteration

Status of

Location of

residue

Patient

alteration1

alteration

number

bp


C->T; Gln-Stp

Causative

Known

5762

1852

01 & 01S

exon 39

Del 11 bases

Causative

Unknown

6056–6066

1950–1953

02

exon 41

Del exon 21

Causative

N/A

03

G->T; Splice

Causative

Unknown

738+1

04

destroyed ex6

C->T; Arg-

Causative

Unknown

3359

1051

07

>Stp exon 23

G->A Splice

Causative

Unknown

10015+5

08

destroyed 67

C->T;Arg-

Neutral

Known

6671

2155

03

>Trp ex45

G->A;Arg-

Neutral

Known

5442

1745

05,06,08

>His ex37

A->G;Gln-

Neutral

Known

9018

2937

05,06

>Arg ex59

C->T;Arg-

Neutral

Known

6779

2191

06

>Trp ex45

G->A;Gly-

Neutral

Known

2853

882

08

>Asp21 ex21

A->G;Arg-

Silent2

Unknown

1843

545

05,08

>Arg ex14

G->A;Ser-

Silent

Known

3229

1007

08

>Ser ex23

CC->GA

Intronic

Unknown

1040–18

04

before ex09

G->T before

Intronic

Unknown

1691–123

04,05

ex13

T->C before

Intronic

Unknown

1913–57

05,08

ex15

T->C before

Intronic

Unknown

6326–150

05

ex 43

G->T after

Intronic

Unknown

6822+25

06,08

ex45

T->C after

Intronic

Unknown

2376+17

06

ex17

10A's->8A's

Intronic

Unknown

6130+69

06,08

after ex41

T->C before

Intronic

Unknown

2377–96

08

ex18

C->T after

Polymorphic

Known

8235+11

03

ex54

G->A before

Polymorphic

Known

1691–110

04,05

ex13

C->G after

Polymorphic

Known

7408+53

04

ex49

T->C before

Polymorphic

Known

1691–72

05

ex13

A->T before

Polymorphic

Known

6326–63

05

ex43

C->T after

Polymorphic

Known

9857+15

06

ex66


1Alterations were compared to Leiden Muscular Dystrophy pages http://www.dmd.nl/ webcite to determine if know or previously unknown. 2Potential splice site created.

Bennett et al. BMC Genetics 2001 2:17   doi:10.1186/1471-2156-2-17

Open Data