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Table 1 DMD transcript variants and their tissue expression

From: Assessment of the structural and functional impact of in-frame mutations of the DMD gene, using the tools included in the eDystrophin online database

Promoters

Publication

Tissue specificity

Alternative splicing

mRNA RefSeq

Protein RefSeq

dp427m

(Koenig et al., 1989)[16]

Skeletal muscle, heart muscle, glial cells

Not referenced

NM_004006.2

NP_003997.1

dp427c

(Chelly et al., 1990)[46]

Brain, retina

Not referenced

NM_000109.3

NP_000100.2

dp427p

(Chelly et al., 1990)[46]

Purkinje cells, muscle

Not referenced

NM_004009.3

NP_004000.1

dp260

(D'Souza et al., 1995)[47]

Retina

No but two alternative exon 1

1: NM_004011.3

1: NP_004002.2

    

2: NM_004012.3

2: NP_004003.1

dp140

(Lidov et al., 1995)[48]

Brain, kidney, retina

No splicing - > dp140

NM_004013.2

NP_004004.1

   

Exons 71 & 78 - > dp140ab

NM_004022.2

NP_004013.1

   

Exon 78 - > dp140b

NM_004021.2

NP_004012.1

   

Exons 71 to 74 & 78 - > dp140bc

NM_004023.2

NP_004014.1

   

Exons 71 to 74 - > dp140c

NM_004020.3

NP_004011.2

dp116

(Byers et al., 1993)[49]

Schwann cells

Not referenced

NM_004014.2

NP_004005.1

dp71

(Hugnot et al., 1992)[50]

Everywhere except skeletal muscle

No splicing - > dp71

NM_004015.2

NP_004006.1

   

Exons 71 - > dp71a

NM_004017.2

NP_004008.1

   

Exon 71 & 78 - > dp71ab

NM_004018.2

NP_004009.1

   

Exon 78 - > dp71b

NM_004016.2

NP_004007.1

   

Stop at Exon 70 - > dp40

NM_004019.2

NP_004010.1