Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21046 | 63361;63362;63363 | chr2:178588589;178588588;178588587 | chr2:179453316;179453315;179453314 |
| N2AB | 19405 | 58438;58439;58440 | chr2:178588589;178588588;178588587 | chr2:179453316;179453315;179453314 |
| N2A | 18478 | 55657;55658;55659 | chr2:178588589;178588588;178588587 | chr2:179453316;179453315;179453314 |
| N2B | 11981 | 36166;36167;36168 | chr2:178588589;178588588;178588587 | chr2:179453316;179453315;179453314 |
| Novex-1 | 12106 | 36541;36542;36543 | chr2:178588589;178588588;178588587 | chr2:179453316;179453315;179453314 |
| Novex-2 | 12173 | 36742;36743;36744 | chr2:178588589;178588588;178588587 | chr2:179453316;179453315;179453314 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs368868562  |
-1.51 | 0.175 | N | 0.507 | 0.222 | None | gnomAD-2.1.1 | 5.07E-05 | None | None | None | None | N | None | 5.07743E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/T | rs368868562 |
-1.51 | 0.175 | N | 0.507 | 0.222 | None | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 2.41324E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/T | rs368868562 |
-1.51 | 0.175 | N | 0.507 | 0.222 | None | gnomAD-4.0.0 | 1.28462E-05 | None | None | None | None | N | None | 2.1913E-04 | 1.92626E-05 | None | 0 | 0 | None | 0 | 0 | 1.73382E-06 | 0 | 1.66656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.144 | likely_benign | 0.1304 | benign | -1.598 | Destabilizing | 0.055 | N | 0.502 | neutral | None | None | None | None | N |
| I/C | 0.4756 | ambiguous | 0.4326 | ambiguous | -1.066 | Destabilizing | 0.667 | D | 0.581 | neutral | None | None | None | None | N |
| I/D | 0.622 | likely_pathogenic | 0.5534 | ambiguous | -0.599 | Destabilizing | 0.667 | D | 0.633 | neutral | None | None | None | None | N |
| I/E | 0.4373 | ambiguous | 0.4033 | ambiguous | -0.584 | Destabilizing | 0.364 | N | 0.621 | neutral | None | None | None | None | N |
| I/F | 0.1478 | likely_benign | 0.1342 | benign | -1.031 | Destabilizing | 0.175 | N | 0.497 | neutral | N | 0.495388511 | None | None | N |
| I/G | 0.5083 | ambiguous | 0.4605 | ambiguous | -1.925 | Destabilizing | 0.364 | N | 0.615 | neutral | None | None | None | None | N |
| I/H | 0.4373 | ambiguous | 0.3956 | ambiguous | -0.908 | Destabilizing | 0.958 | D | 0.639 | neutral | None | None | None | None | N |
| I/K | 0.3323 | likely_benign | 0.297 | benign | -0.928 | Destabilizing | 0.22 | N | 0.622 | neutral | None | None | None | None | N |
| I/L | 0.0896 | likely_benign | 0.0827 | benign | -0.774 | Destabilizing | None | N | 0.191 | neutral | N | 0.40465186399999997 | None | None | N |
| I/M | 0.0914 | likely_benign | 0.0827 | benign | -0.703 | Destabilizing | 0.003 | N | 0.309 | neutral | N | 0.478226903 | None | None | N |
| I/N | 0.2644 | likely_benign | 0.2281 | benign | -0.766 | Destabilizing | 0.602 | D | 0.643 | neutral | N | 0.499967612 | None | None | N |
| I/P | 0.3177 | likely_benign | 0.2899 | benign | -1.016 | Destabilizing | 0.859 | D | 0.636 | neutral | None | None | None | None | N |
| I/Q | 0.3379 | likely_benign | 0.3133 | benign | -0.919 | Destabilizing | 0.667 | D | 0.643 | neutral | None | None | None | None | N |
| I/R | 0.2501 | likely_benign | 0.2175 | benign | -0.337 | Destabilizing | 0.497 | N | 0.629 | neutral | None | None | None | None | N |
| I/S | 0.2013 | likely_benign | 0.1808 | benign | -1.481 | Destabilizing | 0.175 | N | 0.591 | neutral | N | 0.46820191 | None | None | N |
| I/T | 0.0877 | likely_benign | 0.0847 | benign | -1.337 | Destabilizing | 0.175 | N | 0.507 | neutral | N | 0.457331556 | None | None | N |
| I/V | 0.0588 | likely_benign | 0.0594 | benign | -1.016 | Destabilizing | None | N | 0.217 | neutral | N | 0.398091251 | None | None | N |
| I/W | 0.6685 | likely_pathogenic | 0.6186 | pathogenic | -1.016 | Destabilizing | 0.958 | D | 0.645 | neutral | None | None | None | None | N |
| I/Y | 0.4645 | ambiguous | 0.4125 | ambiguous | -0.82 | Destabilizing | 0.667 | D | 0.587 | neutral | None | None | 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.