Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25090 | 75493;75494;75495 | chr2:178570864;178570863;178570862 | chr2:179435591;179435590;179435589 |
| N2AB | 23449 | 70570;70571;70572 | chr2:178570864;178570863;178570862 | chr2:179435591;179435590;179435589 |
| N2A | 22522 | 67789;67790;67791 | chr2:178570864;178570863;178570862 | chr2:179435591;179435590;179435589 |
| N2B | 16025 | 48298;48299;48300 | chr2:178570864;178570863;178570862 | chr2:179435591;179435590;179435589 |
| Novex-1 | 16150 | 48673;48674;48675 | chr2:178570864;178570863;178570862 | chr2:179435591;179435590;179435589 |
| Novex-2 | 16217 | 48874;48875;48876 | chr2:178570864;178570863;178570862 | chr2:179435591;179435590;179435589 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | rs762970043  |
-0.708 | 0.193 | N | 0.429 | 0.074 | 0.0551355673512 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| F/I | rs762970043 |
-0.708 | 0.193 | N | 0.429 | 0.074 | 0.0551355673512 | gnomAD-4.0.0 | 4.77535E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.64738E-05 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.324 | likely_benign | 0.382 | ambiguous | -1.663 | Destabilizing | 0.116 | N | 0.519 | neutral | None | None | None | None | N |
| F/C | 0.1742 | likely_benign | 0.1914 | benign | -0.805 | Destabilizing | 0.975 | D | 0.566 | neutral | N | 0.472997228 | None | None | N |
| F/D | 0.6664 | likely_pathogenic | 0.7208 | pathogenic | 0.337 | Stabilizing | 0.69 | D | 0.553 | neutral | None | None | None | None | N |
| F/E | 0.7014 | likely_pathogenic | 0.7568 | pathogenic | 0.375 | Stabilizing | 0.69 | D | 0.543 | neutral | None | None | None | None | N |
| F/G | 0.6247 | likely_pathogenic | 0.6955 | pathogenic | -1.937 | Destabilizing | 0.388 | N | 0.535 | neutral | None | None | None | None | N |
| F/H | 0.4261 | ambiguous | 0.483 | ambiguous | -0.223 | Destabilizing | 0.981 | D | 0.499 | neutral | None | None | None | None | N |
| F/I | 0.0898 | likely_benign | 0.1029 | benign | -0.889 | Destabilizing | 0.193 | N | 0.429 | neutral | N | 0.434958915 | None | None | N |
| F/K | 0.7161 | likely_pathogenic | 0.772 | pathogenic | -0.653 | Destabilizing | 0.69 | D | 0.537 | neutral | None | None | None | None | N |
| F/L | 0.4231 | ambiguous | 0.5373 | ambiguous | -0.889 | Destabilizing | 0.001 | N | 0.174 | neutral | N | 0.445213194 | None | None | N |
| F/M | 0.2529 | likely_benign | 0.3123 | benign | -0.695 | Destabilizing | 0.527 | D | 0.509 | neutral | None | None | None | None | N |
| F/N | 0.4342 | ambiguous | 0.4848 | ambiguous | -0.623 | Destabilizing | 0.69 | D | 0.567 | neutral | None | None | None | None | N |
| F/P | 0.7625 | likely_pathogenic | 0.8375 | pathogenic | -1.133 | Destabilizing | 0.818 | D | 0.569 | neutral | None | None | None | None | N |
| F/Q | 0.5824 | likely_pathogenic | 0.6593 | pathogenic | -0.674 | Destabilizing | 0.818 | D | 0.569 | neutral | None | None | None | None | N |
| F/R | 0.608 | likely_pathogenic | 0.6783 | pathogenic | -0.059 | Destabilizing | 0.818 | D | 0.572 | neutral | None | None | None | None | N |
| F/S | 0.2433 | likely_benign | 0.2744 | benign | -1.467 | Destabilizing | 0.018 | N | 0.356 | neutral | N | 0.356402131 | None | None | N |
| F/T | 0.2616 | likely_benign | 0.3146 | benign | -1.334 | Destabilizing | 0.241 | N | 0.509 | neutral | None | None | None | None | N |
| F/V | 0.0918 | likely_benign | 0.1152 | benign | -1.133 | Destabilizing | 0.193 | N | 0.441 | neutral | N | 0.46441503 | None | None | N |
| F/W | 0.3219 | likely_benign | 0.3991 | ambiguous | -0.297 | Destabilizing | 0.981 | D | 0.51 | neutral | None | None | None | None | N |
| F/Y | 0.1317 | likely_benign | 0.1449 | benign | -0.441 | Destabilizing | 0.492 | N | 0.491 | neutral | N | 0.47776833 | 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.