Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8907 | 26944;26945;26946 | chr2:178713939;178713938;178713937 | chr2:179578666;179578665;179578664 |
| N2AB | 8590 | 25993;25994;25995 | chr2:178713939;178713938;178713937 | chr2:179578666;179578665;179578664 |
| N2A | 7663 | 23212;23213;23214 | chr2:178713939;178713938;178713937 | chr2:179578666;179578665;179578664 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | -0.146 | 0.003 | N | 0.221 | 0.114 | 0.17258766438 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | None | -0.146 | 0.003 | N | 0.221 | 0.114 | 0.17258766438 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 9.66E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | None | -0.146 | 0.003 | N | 0.221 | 0.114 | 0.17258766438 | gnomAD-4.0.0 | 3.09891E-06 | None | None | None | None | I | None | 6.67806E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs764261158  |
None | None | N | 0.089 | 0.091 | 0.132336055621 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs764261158 |
None | None | N | 0.089 | 0.091 | 0.132336055621 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs764261158 |
None | None | N | 0.089 | 0.091 | 0.132336055621 | gnomAD-4.0.0 | 5.57805E-06 | None | None | None | None | I | None | 2.67123E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93372E-06 | 0 | 0 |
| P/T | rs764261158 |
None | None | N | 0.101 | 0.108 | 0.268211541103 | gnomAD-4.0.0 | 4.10576E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39729E-06 | 0 | 0 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0596 | likely_benign | 0.0586 | benign | -0.388 | Destabilizing | 0.003 | N | 0.221 | neutral | N | 0.431681829 | None | None | I |
| P/C | 0.3673 | ambiguous | 0.3982 | ambiguous | -0.789 | Destabilizing | 0.245 | N | 0.279 | neutral | None | None | None | None | I |
| P/D | 0.1841 | likely_benign | 0.1645 | benign | -0.464 | Destabilizing | None | N | 0.095 | neutral | None | None | None | None | I |
| P/E | 0.1507 | likely_benign | 0.1354 | benign | -0.591 | Destabilizing | None | N | 0.091 | neutral | None | None | None | None | I |
| P/F | 0.2825 | likely_benign | 0.2996 | benign | -0.755 | Destabilizing | 0.245 | N | 0.331 | neutral | None | None | None | None | I |
| P/G | 0.1831 | likely_benign | 0.1699 | benign | -0.454 | Destabilizing | 0.004 | N | 0.305 | neutral | None | None | None | None | I |
| P/H | 0.1103 | likely_benign | 0.1099 | benign | -0.03 | Destabilizing | 0.196 | N | 0.286 | neutral | N | 0.467911987 | None | None | I |
| P/I | 0.1631 | likely_benign | 0.169 | benign | -0.364 | Destabilizing | 0.001 | N | 0.187 | neutral | None | None | None | None | I |
| P/K | 0.151 | likely_benign | 0.1338 | benign | -0.445 | Destabilizing | 0.009 | N | 0.298 | neutral | None | None | None | None | I |
| P/L | 0.0823 | likely_benign | 0.0893 | benign | -0.364 | Destabilizing | 0.007 | N | 0.307 | neutral | N | 0.461466018 | None | None | I |
| P/M | 0.1713 | likely_benign | 0.181 | benign | -0.524 | Destabilizing | 0.245 | N | 0.285 | neutral | None | None | None | None | I |
| P/N | 0.1402 | likely_benign | 0.1297 | benign | -0.255 | Destabilizing | None | N | 0.096 | neutral | None | None | None | None | I |
| P/Q | 0.1068 | likely_benign | 0.0989 | benign | -0.501 | Destabilizing | 0.044 | N | 0.293 | neutral | None | None | None | None | I |
| P/R | 0.1116 | likely_benign | 0.0979 | benign | 0.072 | Stabilizing | 0.033 | N | 0.369 | neutral | N | 0.443706976 | None | None | I |
| P/S | 0.0773 | likely_benign | 0.0744 | benign | -0.545 | Destabilizing | None | N | 0.089 | neutral | N | 0.382135656 | None | None | I |
| P/T | 0.0638 | likely_benign | 0.0636 | benign | -0.581 | Destabilizing | None | N | 0.101 | neutral | N | 0.412634708 | None | None | I |
| P/V | 0.1224 | likely_benign | 0.1253 | benign | -0.342 | Destabilizing | 0.009 | N | 0.278 | neutral | None | None | None | None | I |
| P/W | 0.4256 | ambiguous | 0.4565 | ambiguous | -0.808 | Destabilizing | 0.788 | D | 0.286 | neutral | None | None | None | None | I |
| P/Y | 0.2515 | likely_benign | 0.2616 | benign | -0.532 | Destabilizing | 0.245 | N | 0.329 | neutral | None | None | None | None | I |
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.