Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7427 | 22504;22505;22506 | chr2:178722508;178722507;178722506 | chr2:179587235;179587234;179587233 |
| N2AB | 7110 | 21553;21554;21555 | chr2:178722508;178722507;178722506 | chr2:179587235;179587234;179587233 |
| N2A | 6183 | 18772;18773;18774 | chr2:178722508;178722507;178722506 | chr2:179587235;179587234;179587233 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs749935348  |
-0.614 | 0.93 | N | 0.444 | 0.553 | 0.386721274199 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| D/G | rs749935348 |
-0.614 | 0.93 | N | 0.444 | 0.553 | 0.386721274199 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs749935348 |
-0.614 | 0.93 | N | 0.444 | 0.553 | 0.386721274199 | gnomAD-4.0.0 | 6.57289E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47046E-05 | 0 | 0 |
| D/Y | rs1292504636 |
0.039 | 1.0 | D | 0.64 | 0.566 | 0.788010845958 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| D/Y | rs1292504636 |
0.039 | 1.0 | D | 0.64 | 0.566 | 0.788010845958 | gnomAD-4.0.0 | 3.18722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86241E-06 | 0 | 3.02957E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4815 | ambiguous | 0.4119 | ambiguous | -0.255 | Destabilizing | 0.902 | D | 0.477 | neutral | N | 0.506193802 | None | None | N |
| D/C | 0.9343 | likely_pathogenic | 0.9088 | pathogenic | -0.071 | Destabilizing | 0.999 | D | 0.652 | neutral | None | None | None | None | N |
| D/E | 0.37 | ambiguous | 0.3397 | benign | -0.336 | Destabilizing | 0.673 | D | 0.417 | neutral | N | 0.494330518 | None | None | N |
| D/F | 0.9232 | likely_pathogenic | 0.9027 | pathogenic | -0.163 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | N |
| D/G | 0.3292 | likely_benign | 0.2814 | benign | -0.458 | Destabilizing | 0.93 | D | 0.444 | neutral | N | 0.511740438 | None | None | N |
| D/H | 0.7125 | likely_pathogenic | 0.6641 | pathogenic | 0.02 | Stabilizing | 0.998 | D | 0.545 | neutral | N | 0.513550863 | None | None | N |
| D/I | 0.8404 | likely_pathogenic | 0.8013 | pathogenic | 0.233 | Stabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| D/K | 0.8608 | likely_pathogenic | 0.8272 | pathogenic | 0.222 | Stabilizing | 0.995 | D | 0.463 | neutral | None | None | None | None | N |
| D/L | 0.854 | likely_pathogenic | 0.8182 | pathogenic | 0.233 | Stabilizing | 0.999 | D | 0.535 | neutral | None | None | None | None | N |
| D/M | 0.9256 | likely_pathogenic | 0.909 | pathogenic | 0.277 | Stabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| D/N | 0.1786 | likely_benign | 0.1667 | benign | -0.079 | Destabilizing | 0.209 | N | 0.277 | neutral | D | 0.52218919 | None | None | N |
| D/P | 0.7918 | likely_pathogenic | 0.7453 | pathogenic | 0.092 | Stabilizing | 0.967 | D | 0.533 | neutral | None | None | None | None | N |
| D/Q | 0.8031 | likely_pathogenic | 0.7637 | pathogenic | -0.042 | Destabilizing | 0.998 | D | 0.449 | neutral | None | None | None | None | N |
| D/R | 0.8871 | likely_pathogenic | 0.8567 | pathogenic | 0.431 | Stabilizing | 0.999 | D | 0.584 | neutral | None | None | None | None | N |
| D/S | 0.3273 | likely_benign | 0.2921 | benign | -0.191 | Destabilizing | 0.49 | N | 0.13 | neutral | None | None | None | None | N |
| D/T | 0.6195 | likely_pathogenic | 0.5636 | ambiguous | -0.035 | Destabilizing | 0.929 | D | 0.421 | neutral | None | None | None | None | N |
| D/V | 0.6499 | likely_pathogenic | 0.5906 | pathogenic | 0.092 | Stabilizing | 0.995 | D | 0.561 | neutral | N | 0.503751494 | None | None | N |
| D/W | 0.9829 | likely_pathogenic | 0.9773 | pathogenic | -0.037 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/Y | 0.6089 | likely_pathogenic | 0.5416 | ambiguous | 0.068 | Stabilizing | 1.0 | D | 0.64 | neutral | D | 0.524021796 | None | None | N |
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.