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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F/I | 17314 | Ig-112 | 64 | None | 0.1648 | None | 0.971 | N | 0.701 | 0.272 | 0.388010793773 | gnomAD-4.0.0 | 6.84811E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00017E-07 | 0 | 0 |
F/L | 17314 | Ig-112 | 64 | None | 0.7262 | None | 0.822 | N | 0.663 | 0.193 | 0.219573609325 | gnomAD-4.0.0 | 6.84811E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00017E-07 | 0 | 0 |
F/S | 17314 | Ig-112 | 64 | None | 0.237 | None | 0.89 | N | 0.735 | 0.248 | 0.561332866315 | gnomAD-4.0.0 | 1.59451E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86367E-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.