Table 1.
SequenceVariations in the FBLN5 Gene*
| Nucleotide change |
Effect or sequence change |
Degree of conservationa |
|||
|---|---|---|---|---|---|
| Amino acid changing variants | |||||
| United Kingdom data | ARMD (n = 514) | Controls (n = 188) | |||
| Exon 4 | c.371A>C | p.Gln124Pro | 1 | 0 | 8/8, chicken |
| Exon 6 | c.604G>A | p.Gly202Arg | 0 | 1 | 11/11, chicken |
| Exon 8 | c.799G>A | p.Gly267Ser | 2 | 0 | 10/10, chicken |
| Netherlands data | ARMD (n = 291) | Controls (n = 91) | |||
| Exon 4 | c.376G>A | p.Val126Met | 1 | 5 | 7/8, bovine |
| Synonymous coding variants | |||||
| United Kingdom data | ARMD affected (n = 514) | Controls (n = 188) | |||
| Exon 5 | c.484C>T | p.Leu162Leu | 1 | 0 | |
| Exon 9 | c.945T>C | p.Ile315Ile | 206 | 76 | |
| Exon 10 | c.1122C>T | p.Tyr374Tyr | 19 | 10 | |
| Exon 10 | c.1134T>C | p.Tyr378Tyr | 2 | 0 | |
| Netherlands data | ARMD (n = 291) | Controls (n = 91) | |||
| Exon 7 | c.735C>T | p.Cys245Cys | 2 | 0 | |
| Exon 9 | c.945T>C | p.Ile315lle | 99 | 37 | |
| Exon 10 | c.1122C>T | p.Tyr374Tyr | 18 | 7 | |
| Intronic variants | |||||
| United Kingdom data | ARMD (n = 514) | Controls (n = 188) | |||
| Intron 3 | c.125-53G>A | 1 | 0 | ||
| Intron 3 | c.125-45G>C | 5 | 1 | ||
| Netherlands data | ARMD (n = 291) | Controls (n = 91) | |||
| 5′UTR | c.1-33C>A | 1 | 0 | ||
| Intron 1 | c.18-28A>G | 21 | 8 | ||
| 3′UTR | c.1347+97G>A | 0 | 1 | ||
| 3′UTR | c.1347+121C>T | 1 | 0 | ||
| 3′UTR | c.1347+352G>C | 15 | 28 | ||
| 3′UTR | c.1347+423T>C | 7 | 6 | ||
| 3′UTR | c.1347+514A>G | 18 | 38 | ||
*
Degree of conservation values are the number of nonhuman species that share this residue with humans. The species with the greatest phylogenic distance from humans with a sequence that is homologous to that of humans is also given. cDNA numbering is taken from Ref Seq # NM_006329.2 where +1 corresponds to the A of the ATG initiation codon.
a
Number of conserved variations/total number of variations.