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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
G/R | 15725 | Fn3-1 | 69 | rs1344306392 | 0.4369 | -0.658 | 0.999 | D | 0.83 | 0.539 | 0.690963032294 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
G/R | 15725 | Fn3-1 | 69 | rs1344306392 | 0.4369 | -0.658 | 0.999 | D | 0.83 | 0.539 | 0.690963032294 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
G/R | 15725 | Fn3-1 | 69 | rs1344306392 | 0.4369 | -0.658 | 0.999 | D | 0.83 | 0.539 | 0.690963032294 | gnomAD-4.0.0 | 2.56567E-06 | None | None | None | None | N | None | 1.69417E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.3966E-06 | 0 | 0 |
G/V | 15725 | Fn3-1 | 69 | rs776647163 | 0.2901 | -0.653 | 1.0 | D | 0.793 | 0.489 | 0.681401495644 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
G/V | 15725 | Fn3-1 | 69 | rs776647163 | 0.2901 | -0.653 | 1.0 | D | 0.793 | 0.489 | 0.681401495644 | gnomAD-4.0.0 | 1.59337E-06 | None | None | None | None | N | None | 0 | 2.28885E-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.