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