Collagen I type alpha II gene.

Accession number: Z74616
Gene: COLIA2
Chromosome: chrm_7


Mutation Phenotype Reference(s)


Skipping and mis- EDS VIIB Byers et al. Am J Med Genet 72:94-105 1997


splicing of exon 6


A-2->G intron 5


IVS5-2A>G



Skipping and mis- EDS VIIB Byers et al. Am J Med Genet 72:94-105 1997


splicing of exon 6


G-1->A intron 5


IVS5-1G>A



Missplicing of exon 6 EDS VIIB Chiodo et al. J Biol Chem 267:6361-6369 1992


G-1->C intron 5.


Cryptic site used at


+14/15 in exon 6


IVS5-1G>C



Skipping of exon 6 EDS VIIB Weil et al. J Biol Chem 265:16007-16011 1990


G+1->A intron 6 EDS VIIB Vasan et al. Am J Hum Genet 48:305-317 1991


IVS6+1G>A EDS VIIB Nicholls et al. Hum Genet 87:193-198 1991


EDS VIIB Watson et al. J Biol Chem 267:9093-9100 1992


EDS VIIB Lehmann et al. Arch Dermatol Res 286:425-428 1994


EDS VIIB Giunta et al. J Bone Joint Surg Am 81:225-238 1999



Skipping of exon 6 EDS VIIB Byers et al. Am J Med Genet 72:94-105 1997


G+1->T intron 6 EDS VIIB Byers et al. Am J Med Genet 72:94-105 1997


IVS6+1G>T EDS VIIB Nicholls et al. J Med Genet 37:33e 2000



Skipping of exon 6 EDS VIIB Weil et al. J Biol Chem 263:8561-8564 1988


T+2->C intron 6 EDS VIIB Ho et al. Hum Mutat 3:358-364 1994


IVS6+2T>C EDS VIIB Giunta et al. J Bone Joint Surg Am 81:225-238 1999



Skipping of exon 6 EDS VIIB Weil et al. J Biol Chem 264:16804-16809 1989


ATG->ATA 3' end of EDS VIIB Byers et al. Am J Med Genet 72:94-105 1997


exon 6


c.279G>A



Skipping of exon 9 OI/ Nicholls et al. Hum Genet 88:627-633 1992


Deletion of 11bp in osteoporosis?


intron 9, +3->+13


IVS9+3-+13delAAGTATTTACT



Skipping of exon 9 Joint laxity, Feshchenko et al. Hum Mutat 12:138 1998 Online


G+5->A intron 9 hyperextensible


IVS9+5G>A skin, blue


sclerae



Skipping of exon 11 Atypical OI Kuivaniemi et al. J Biol Chem 263:11407-11413 1988


Deletion of 19bp across


intron 10/exon 11



Skipping of exon 12 OI IV Chipman et al. J Bone Miner Res 7:793-805 1992


T+2->G intron 12


IVS12+2T>G



"Skipping" of exon 13 OI Ward et al. Hum Mutat Mutation in Brief #414 2001 Online


IVS12-3T>A



Skipping of exon 13 OI I Zhuang et al. Hum Genet 91:210-216 1993


Deletion of 19bp in


intron 13, +4->+22


IVS13+4-+22delAGTATTGACTACTTCATTG



Skipping of exon 16 OI IV Filie et al. Hum Mutat 2:380-388 1993


G+1->A intron16


IVS16+1G>A



"Skipping" of exon 16 OI IV Ward et al. Hum Mutat Mutation in Brief #414 2001 Online


IVS16+1G>T



Skipping of exon 16 OI III/IV Zolezzi et al. Hum Mutat 6:268-271 1995


T+2->C intron 16


IVS16+2T>C



Skipping of exon 20 OI I Mottes et al. Hum Genet 93:681-687 1994


G-1->C intron 19


IVS19-1G>C



Skipping of exon 21 OI I Superti-Furga et al. Connect Tissue Res 29:31-40 1993


Deletion of 39bp in


intron 21, +2->+40


IVS21+2-+40del



Skipping of exon 21 OI I(?) or Nicholls et al. Hum Mutat 7:219-227 1996


G+5->A intron 21 dentinogenesis


IVS21+5G>A imperfecta(?)



Skipping of exon 26 OI IV Wenstrup et al. Annal NY Acad Sci 580:546-548 1990


not defined



Skipping of exon 26 OI IV Zolezzi et al. Am J Med Genet 71:366-370 1997


A+3->G intron 26


IVS26+3A>G



Skipping of exon 28 OI II Tromp & Prockop Proc Natl Acad Sci USA 85:5254-5258 1988


A-2->G intron 27


IVS27-2A>G



Missplicing of intron 32 OI III/IV Kuslich et al. Am J Hum Genet 67S2:196 2000 abstract 1052


G+1->A intron 32.


Cryptic AT/AC acceptor


used. Inclusion of last


6 nt of intron 32


IVS32+1G>A



Missplicing of intron 33 OI IV Wenstrup et al. Am J Med Genet 45:228-232 1993


G+4->A intron 33.


Alternative site at


+19. Inclusion of 6aa


IVS33+4G>A



Skipping of exon 33 OI II Ganguly et al. J Biol Chem 266:12035-12040 1991


G+5->A intron 33


IVS33+5G>A



"Skipping" of exon 40 OI II Ward et al. Hum Mutat Mutation in Brief #414 2001 Online


IVS40+5G>A



Missplicing of intron 46 EDS/OI Nicholls et al. J Med Genet 38:132-135 2001


IVS46+2T>C


Cryptic donor site in


exon 46 used causing


17 base deletion and a


frame shift. Recessive.







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