Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 38 | 337;338;339 | chr2:178802321;178802320;178802319 | chr2:179667048;179667047;179667046 |
| N2AB | 38 | 337;338;339 | chr2:178802321;178802320;178802319 | chr2:179667048;179667047;179667046 |
| N2A | 38 | 337;338;339 | chr2:178802321;178802320;178802319 | chr2:179667048;179667047;179667046 |
| N2B | 38 | 337;338;339 | chr2:178802321;178802320;178802319 | chr2:179667048;179667047;179667046 |
| Novex-1 | 38 | 337;338;339 | chr2:178802321;178802320;178802319 | chr2:179667048;179667047;179667046 |
| Novex-2 | 38 | 337;338;339 | chr2:178802321;178802320;178802319 | chr2:179667048;179667047;179667046 |
| Novex-3 | 38 | 337;338;339 | chr2:178802321;178802320;178802319 | chr2:179667048;179667047;179667046 |
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/N | None | None | 0.006 | N | 0.355 | 0.176 | 0.191931220699 | gnomAD-4.0.0 | 1.59066E-06 | None | None | None | -0.686(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02151E-05 |
| S/R | None | None | 0.995 | N | 0.69 | 0.669 | 0.594650670498 | gnomAD-4.0.0 | 1.59063E-06 | None | None | None | -0.206(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.0217E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1193 | likely_benign | 0.1155 | benign | -0.6 | Destabilizing | 0.399 | N | 0.481 | neutral | None | None | None | -0.147(TCAP) | N |
| S/C | 0.3437 | ambiguous | 0.3366 | benign | -0.269 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | D | 0.522482471 | None | -0.607(TCAP) | N |
| S/D | 0.671 | likely_pathogenic | 0.6374 | pathogenic | 0.061 | Stabilizing | 0.916 | D | 0.483 | neutral | None | None | None | -0.503(TCAP) | N |
| S/E | 0.6086 | likely_pathogenic | 0.5905 | pathogenic | 0.143 | Stabilizing | 0.968 | D | 0.491 | neutral | None | None | None | -0.598(TCAP) | N |
| S/F | 0.3155 | likely_benign | 0.2876 | benign | -0.735 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | -0.602(TCAP) | N |
| S/G | 0.1884 | likely_benign | 0.1787 | benign | -0.902 | Destabilizing | 0.939 | D | 0.493 | neutral | N | 0.520110344 | None | -0.11(TCAP) | N |
| S/H | 0.4486 | ambiguous | 0.4435 | ambiguous | -1.144 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | 0.296(TCAP) | N |
| S/I | 0.2463 | likely_benign | 0.2459 | benign | 0.117 | Stabilizing | 0.998 | D | 0.705 | prob.neutral | N | 0.46358752 | None | -0.29(TCAP) | N |
| S/K | 0.7755 | likely_pathogenic | 0.765 | pathogenic | -0.108 | Destabilizing | 0.988 | D | 0.495 | neutral | None | None | None | -0.609(TCAP) | N |
| S/L | 0.1638 | likely_benign | 0.1574 | benign | 0.117 | Stabilizing | 0.998 | D | 0.655 | neutral | None | None | None | -0.29(TCAP) | N |
| S/M | 0.2748 | likely_benign | 0.2592 | benign | 0.049 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | 0.128(TCAP) | N |
| S/N | 0.2395 | likely_benign | 0.2259 | benign | -0.365 | Destabilizing | 0.006 | N | 0.355 | neutral | N | 0.514265341 | None | -0.686(TCAP) | N |
| S/P | 0.9679 | likely_pathogenic | 0.9648 | pathogenic | -0.088 | Destabilizing | 0.998 | D | 0.701 | prob.neutral | None | None | None | -0.237(TCAP) | N |
| S/Q | 0.5078 | ambiguous | 0.5028 | ambiguous | -0.299 | Destabilizing | 0.998 | D | 0.618 | neutral | None | None | None | -0.651(TCAP) | N |
| S/R | 0.6374 | likely_pathogenic | 0.6314 | pathogenic | -0.201 | Destabilizing | 0.995 | D | 0.69 | prob.neutral | N | 0.455154475 | None | -0.206(TCAP) | N |
| S/T | 0.0994 | likely_benign | 0.0956 | benign | -0.315 | Destabilizing | 0.658 | D | 0.48 | neutral | N | 0.377618261 | None | -0.678(TCAP) | N |
| S/V | 0.2651 | likely_benign | 0.2571 | benign | -0.088 | Destabilizing | 0.995 | D | 0.672 | neutral | None | None | None | -0.237(TCAP) | N |
| S/W | 0.5094 | ambiguous | 0.4996 | ambiguous | -0.827 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | -0.79(TCAP) | N |
| S/Y | 0.3075 | likely_benign | 0.2931 | benign | -0.443 | Destabilizing | 0.999 | D | 0.728 | prob.delet. | None | None | None | -0.517(TCAP) | 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.