Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2245 | 6958;6959;6960 | chr2:178774978;178774977;178774976 | chr2:179639705;179639704;179639703 |
| N2AB | 2245 | 6958;6959;6960 | chr2:178774978;178774977;178774976 | chr2:179639705;179639704;179639703 |
| N2A | 2245 | 6958;6959;6960 | chr2:178774978;178774977;178774976 | chr2:179639705;179639704;179639703 |
| N2B | 2199 | 6820;6821;6822 | chr2:178774978;178774977;178774976 | chr2:179639705;179639704;179639703 |
| Novex-1 | 2199 | 6820;6821;6822 | chr2:178774978;178774977;178774976 | chr2:179639705;179639704;179639703 |
| Novex-2 | 2199 | 6820;6821;6822 | chr2:178774978;178774977;178774976 | chr2:179639705;179639704;179639703 |
| Novex-3 | 2245 | 6958;6959;6960 | chr2:178774978;178774977;178774976 | chr2:179639705;179639704;179639703 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.994 | N | 0.629 | 0.184 | 0.15556083564 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| S/N | rs749033972  |
-0.538 | 0.994 | N | 0.651 | 0.223 | 0.146414634003 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1054 | likely_benign | 0.1037 | benign | -0.662 | Destabilizing | 0.98 | D | 0.532 | neutral | None | None | None | None | N |
| S/C | 0.1571 | likely_benign | 0.1481 | benign | -0.116 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | N | 0.386512455 | None | None | N |
| S/D | 0.6506 | likely_pathogenic | 0.6553 | pathogenic | -1.143 | Destabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| S/E | 0.6254 | likely_pathogenic | 0.6247 | pathogenic | -0.88 | Destabilizing | 0.996 | D | 0.654 | neutral | None | None | None | None | N |
| S/F | 0.2748 | likely_benign | 0.2698 | benign | -0.48 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| S/G | 0.1526 | likely_benign | 0.147 | benign | -1.102 | Destabilizing | 0.994 | D | 0.629 | neutral | N | 0.400896 | None | None | N |
| S/H | 0.382 | ambiguous | 0.3791 | ambiguous | -1.295 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| S/I | 0.2277 | likely_benign | 0.2184 | benign | 0.492 | Stabilizing | 0.997 | D | 0.766 | deleterious | N | 0.338520117 | None | None | N |
| S/K | 0.7713 | likely_pathogenic | 0.7667 | pathogenic | 0.579 | Stabilizing | 0.996 | D | 0.645 | neutral | None | None | None | None | N |
| S/L | 0.1595 | likely_benign | 0.1553 | benign | 0.492 | Stabilizing | 0.992 | D | 0.727 | prob.delet. | None | None | None | None | N |
| S/M | 0.2711 | likely_benign | 0.257 | benign | 0.235 | Stabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| S/N | 0.2399 | likely_benign | 0.2382 | benign | -0.322 | Destabilizing | 0.994 | D | 0.651 | neutral | N | 0.458336459 | None | None | N |
| S/P | 0.9791 | likely_pathogenic | 0.9798 | pathogenic | 0.141 | Stabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| S/Q | 0.5664 | likely_pathogenic | 0.5575 | ambiguous | 0.06 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| S/R | 0.6379 | likely_pathogenic | 0.6315 | pathogenic | -0.077 | Destabilizing | 0.998 | D | 0.765 | deleterious | N | 0.314078906 | None | None | N |
| S/T | 0.0734 | likely_benign | 0.0713 | benign | 0.046 | Stabilizing | 0.333 | N | 0.331 | neutral | N | 0.337497696 | None | None | N |
| S/V | 0.2396 | likely_benign | 0.2275 | benign | 0.141 | Stabilizing | 0.992 | D | 0.725 | prob.delet. | None | None | None | None | N |
| S/W | 0.5073 | ambiguous | 0.5053 | ambiguous | -0.767 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/Y | 0.2573 | likely_benign | 0.2557 | benign | -0.247 | Destabilizing | 1.0 | D | 0.795 | deleterious | 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.