The
FBN1
mutations database
The gene
The gene encoding fibrillin-1 (FBN1) lies on the long arm of chromosome15 at 15q15-q21.1 (Magenis et al. 1991, Genomics, 11: 346-351). This very large large gene ( over 200 kb) is highly fragmented into 65 exons, transcribed in a 10 kb mRNA that encodes a 2 871 amino acid protein.
Human sequence (L13923)
Intron-exon organisation [according to Pereira L et al. Hum Mol Genet 2: 961-8 (1993)].
Nucleotide composition of the FBN1 exon-intron junctions: Pereira L et al. Hum Mol Genet 2: 961-8 (1993)].
Fibrillin in other species:
| Mouse sequence (L29454) | Sus scrofa (AF073800) |
| Bovine sequence (L28748) | Jellifish partial cDNA (L39930) |
| Rat sequence (AF135059) | Dog partial cDNA (AF029080) |
When the FBN1 gene was cloned, a second gene sharing a high degree of homology was identified and located on chromosome 5. This gene was named FBN2 and the protein its encodes fibrillin-2 (Lee et al. 1991, Nature, 352: 334-337). FBN2 has been genetically linked to a rare disorder that shares features of Marfan syndrome: congenital contractural arachnodactyly (CCA) (OMIM#121050).
Table of exon coordinates (Show/Hide)
From base # |
To base # |
|
| Exon #1 | 1 |
164 |
| Exon #2 | 165 |
247 |
| Exon #3 | 248 |
346 |
| Exon #4 | 347 |
442 |
| Exon #5 | 443 |
538 |
| Exon #6 | 539 |
736 |
| Exon #7 | 737 |
862 |
| Exon #8 | 863 |
988 |
| Exon #9 | 989 |
1147 |
| Exon #10 | 1148 |
1327 |
| Exon #11 | 1328 |
1468 |
| Exon #12 | 1469 |
1588 |
| Exon #13 | 1589 |
1714 |
| Exon #14 | 1715 |
1837 |
| Exon #15 | 1838 |
1960 |
| Exon #16 | 1961 |
2113 |
| Exon #17 | 2114 |
2167 |
| Exon #18 | 2168 |
2293 |
| Exon #19 | 2294 |
2419 |
| Exon #20 | 2420 |
2539 |
| Exon #21 | 2540 |
2677 |
| Exon #22 | 2678 |
2728 |
| Exon #23 | 2729 |
2854 |
| Exon #24 | 2855 |
3082 |
| Exon #25 | 3083 |
3208 |
| Exon #26 | 3209 |
3337 |
| Exon #27 | 3338 |
3463 |
| Exon #28 | 3464 |
3589 |
| Exon #29 | 3590 |
3712 |
| Exon #30 | 3713 |
3838 |
| Exon #31 | 3839 |
3964 |
| Exon #32 | 3965 |
4087 |
| Exon #33 | 4088 |
4210 |
| Exon #34 | 4211 |
4336 |
| Exon #35 | 4337 |
4459 |
| Exon #36 | 4460 |
4582 |
| Exon #37 | 4583 |
4747 |
| Exon #38 | 4748 |
4816 |
| Exon #39 | 4817 |
4942 |
| Exon #40 | 4943 |
5065 |
| Exon #41 | 5066 |
5224 |
| Exon #42 | 5225 |
5296 |
| Exon #43 | 5297 |
5422 |
| Exon #44 | 5423 |
5545 |
| Exon #45 | 5546 |
5671 |
| Exon #46 | 5672 |
5788 |
| Exon #47 | 5789 |
5917 |
| Exon #48 | 5918 |
6037 |
| Exon #49 | 6038 |
6163 |
| Exon #50 | 6164 |
6313 |
| Exon #51 | 6314 |
6379 |
| Exon #52 | 6380 |
6496 |
| Exon #53 | 6497 |
6616 |
| Exon #54 | 6617 |
6739 |
| Exon #55 | 6740 |
6871 |
| Exon #56 | 6872 |
6997 |
| Exon #57 | 6998 |
7204 |
| Exon #58 | 7205 |
7330 |
| Exon #59 | 7331 |
7453 |
| Exon #60 | 7454 |
7570 |
| Exon #61 | 7571 |
7699 |
| Exon #62 | 7700 |
7819 |
| Exon #63 | 7820 |
8051 |
| Exon #64 | 8052 |
8226 |
| Exon #65 | 8227 |
8616 |
FBN1 coding sequence (Show/Hide)
Exon phasing of the FBN1 gene (Show/Hide)
