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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
K/N | 18423 | Ig-115 | 42 | rs367799017 | 0.5004 | 0.061 | 1.0 | N | 0.658 | 0.267 | 0.171388866994 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
K/N | 18423 | Ig-115 | 42 | rs367799017 | 0.5004 | 0.061 | 1.0 | N | 0.658 | 0.267 | 0.171388866994 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
K/N | 18423 | Ig-115 | 42 | rs367799017 | 0.5004 | 0.061 | 1.0 | N | 0.658 | 0.267 | 0.171388866994 | gnomAD-4.0.0 | 8.68232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18727E-05 | 0 | 0 |
K/R | 18423 | Ig-115 | 42 | rs752722625 | 0.0931 | -0.203 | 0.999 | N | 0.565 | 0.164 | 0.218845423259 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
K/R | 18423 | Ig-115 | 42 | rs752722625 | 0.0931 | -0.203 | 0.999 | N | 0.565 | 0.164 | 0.218845423259 | gnomAD-4.0.0 | 4.78037E-06 | None | None | None | None | N | None | 0 | 6.86467E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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.