Note: The original file submitted is modified to provide links to the results.
Table 2. RNA splicing mutations in COL3A1.
Return to the start of COL3A1. 


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Mutation                  Phenotype      Reference(s)

Skipping of exon 7        EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+1->C intron 7

Skipping of exon 7        EDS IV         Lloyd et al. J Med Genet 30:376-380 1993
T+6->C intron 7           EDS IV         Pepin et al. N Engl J Med 342:673-680 2000

Skipping of exon 8        EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+5->A intron 8           EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
                          EDS IV         Pinto et al. N Engl J Med 343:366-368 2000

Skipping of exon 9        EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+1->A intron 9

Skipping of exon 9        EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
T+2->A intron 9

Skipping of exon 9        EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
T+2->G intron 9

Skipping of exon 10       EDS IV         Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online
A-2->G intron 9
IVS9-2A>G

Skipping of exon 13       EDS IV         Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online
T+2->A intron 13
IVS13+2T>A

Skipping of exon 14       EDS IV         Pope et al. Br J Dermatol 135:163-181 1996
A-2->C intron 13

Skipping of exon 14       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+3->T intron 14

Skipping of exon 16       Moderate       Kuivaniemi et al. J Biol. Chem 265:12067-12074 1990
G+1->A intron 16          EDS IV

Skipping of exon 17       EDS IV         Pepin et al. N Engl J Med 342:673-680 2000
G-1->C intron 16

Skipping of exon 17       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+1->A intron 17

Skipping of exon 17       EDS IV         Chiodo et al. Biochem J 311:939-943 1995
T+2->G intron 17

Skipping of exon 17       EDS IV         Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online
T+2A+3>A+2G+3 intron17
IVS17+2TA>AG

Skipping of exon 18       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G-1->C intron 17

Skipping of exon 20       EDS IV/        Kontusaari et al. Am J Hum Genet 47:112-120 1990
G+1->A intron 20          aortic         Goldstein et al. Matrix 14:392-393 1994 (abst)
                          aneurysm       Anderson et al. Hum Mutat 9:475 1997

Skipping of exon 24       EDS IV         Pope et al. Br J Dermatol 135:163-181 1996
G+1->A intron 24          EDS IV         Pope et al. Br J Dermatol 135:163-181 1996
                          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
                          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
                          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
                          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
                          EDS IV         White et al. J Med Genet 36:S98 Abstract 14.262 1999
                          EDS IV         Pepin et al. N Engl J Med 342:673-680 2000
                          EDS IV         Pepin et al. N Engl J Med 342:673-680 2000
                          eds IV         Pepin et al. N Engl J Med 342:673-680 2000

Skipping of exon 25       EDS IV         Lee et al. J. Biol. Chem. 266:5256-5259 1991
G+5->T intron 25

Skipping of exon 27       EDS IV         Thakker-Varia et al. Hum Mutat 6:116-125 1995
G+5->A intron 27

Skipping of exon 27       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+5->T intron 27

Skipping of exon 28       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+1->C intron 28

Skipping of exon 30       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G->A last nt of
exon 30

Skipping of exon 34       Severe EDS IV  Kuivaniemi et al. J Invest Dermatol 105:352-356 1995
G->A last nt of
exon 34

Skipping of exon 34       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+1->A intron 34

Skipping of exon 34       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
T+2->C intron 34

Skipping of exon 36       EDS IV         Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online
G+1->C intron 36
IVS36+1G>C

Skipping of exon 37       EDS IV         Richards et al. Hum Mol Genet 3:1901-1902 1994
insertion of TT after
T+2 intron 37

Skipping of exon 37       EDS IV         Richards et al. Hum Mol Genet 3:1901-1902 1994
T+2->C intron 37          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997

Skipping of exon 37       EDS IV         Wu et al. Hum Mutat 2:28-36 1993
G+5->T intron 37

Skipping of exon 38       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+5->A intron 38

Skipping of exon 38       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+5->T intron 38

Skipping of exon 41       EDS IV         Cole et al. J Biol Chem 265: 17070-17077 1990
G+1->A intron 41          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
                          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997

Skipping of exon 42       Severe EDS IV  Kuivaniemi et al. J Biol Chem 265:12067-12074 1990
G+1->A intron 42

Mis-splicing of exon 42   EDS IV         Giunta and Steinmann Hum Mutat 16:176-177 (2000) Online
G+5->C intron 42
IVS42+5G>C
10 aa insertion
VNSSFYSTSQ

Skipping of exon 43       EDS IV         Pope et al. Br J Dermatol 135:163-181 1996
G+1->A intron 43

Skipping of exon 43       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
T+2->C intron 43          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997

Skipping of exon 45       EDS IV         Pope et al. Br J Dermatol 135:163-181 1996
G+1->A intron 45          EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997

Skipping of exon 45       EDS IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
G+5->A intron 45

Skipping of exon 47       ESD IV         Schwarze et al. Am J Hum Genet 61:1276-1286 1997
A-2->C intron 46