Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30664 | 92215;92216;92217 | chr2:178549732;178549731;178549730 | chr2:179414459;179414458;179414457 |
| N2AB | 29023 | 87292;87293;87294 | chr2:178549732;178549731;178549730 | chr2:179414459;179414458;179414457 |
| N2A | 28096 | 84511;84512;84513 | chr2:178549732;178549731;178549730 | chr2:179414459;179414458;179414457 |
| N2B | 21599 | 65020;65021;65022 | chr2:178549732;178549731;178549730 | chr2:179414459;179414458;179414457 |
| Novex-1 | 21724 | 65395;65396;65397 | chr2:178549732;178549731;178549730 | chr2:179414459;179414458;179414457 |
| Novex-2 | 21791 | 65596;65597;65598 | chr2:178549732;178549731;178549730 | chr2:179414459;179414458;179414457 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | None | None | 1.0 | D | 0.693 | 0.492 | 0.727100791208 | gnomAD-4.0.0 | 6.84242E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.8276E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/S | None | None | 1.0 | N | 0.573 | 0.369 | 0.259272394797 | gnomAD-4.0.0 | 1.59141E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76781E-05 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9785 | likely_pathogenic | 0.9808 | pathogenic | -0.309 | Destabilizing | 0.999 | D | 0.461 | neutral | None | None | None | None | N |
| R/C | 0.781 | likely_pathogenic | 0.8086 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/D | 0.9931 | likely_pathogenic | 0.9938 | pathogenic | 0.007 | Stabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| R/E | 0.9654 | likely_pathogenic | 0.9705 | pathogenic | 0.068 | Stabilizing | 0.999 | D | 0.515 | neutral | None | None | None | None | N |
| R/F | 0.9756 | likely_pathogenic | 0.9775 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| R/G | 0.9538 | likely_pathogenic | 0.9602 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.517 | neutral | N | 0.461881676 | None | None | N |
| R/H | 0.417 | ambiguous | 0.4285 | ambiguous | -0.875 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| R/I | 0.9606 | likely_pathogenic | 0.9642 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.524871856 | None | None | N |
| R/K | 0.5659 | likely_pathogenic | 0.5766 | pathogenic | -0.293 | Destabilizing | 0.997 | D | 0.401 | neutral | N | 0.467263727 | None | None | N |
| R/L | 0.8934 | likely_pathogenic | 0.9049 | pathogenic | 0.194 | Stabilizing | 1.0 | D | 0.517 | neutral | None | None | None | None | N |
| R/M | 0.9627 | likely_pathogenic | 0.9665 | pathogenic | -0.082 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| R/N | 0.9815 | likely_pathogenic | 0.9822 | pathogenic | 0.084 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| R/P | 0.9926 | likely_pathogenic | 0.993 | pathogenic | 0.046 | Stabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | N |
| R/Q | 0.5976 | likely_pathogenic | 0.6357 | pathogenic | -0.112 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | N |
| R/S | 0.9778 | likely_pathogenic | 0.9809 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.573 | neutral | N | 0.49669802 | None | None | N |
| R/T | 0.9708 | likely_pathogenic | 0.9748 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.574 | neutral | N | 0.513726343 | None | None | N |
| R/V | 0.966 | likely_pathogenic | 0.9701 | pathogenic | 0.046 | Stabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| R/W | 0.7862 | likely_pathogenic | 0.7964 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| R/Y | 0.931 | likely_pathogenic | 0.9319 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.656 | 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.