SAV | Position (IC) | Domain | Position (Domain) | RS | AlphaMissense (IC) |
DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
D/E | 18428 | Ig-115 | 47 | rs1343753783 | 0.1291 | -0.618 | 0.001 | N | 0.2 | 0.026 | 0.0551355673512 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
D/E | 18428 | Ig-115 | 47 | rs1343753783 | 0.1291 | -0.618 | 0.001 | N | 0.2 | 0.026 | 0.0551355673512 | gnomAD-4.0.0 | 6.84838E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9993E-07 | 0 | 0 |
D/G | 18428 | Ig-115 | 47 | rs1430526014 | 0.1573 | -0.758 | 0.027 | N | 0.505 | 0.09 | 0.12205267543 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
D/G | 18428 | Ig-115 | 47 | rs1430526014 | 0.1573 | -0.758 | 0.027 | N | 0.505 | 0.09 | 0.12205267543 | gnomAD-4.0.0 | 1.59451E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43505E-05 | 0 |
D/N | 18428 | Ig-115 | 47 | None | 0.0644 | None | None | N | 0.221 | 0.077 | 0.110078149338 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.