Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18283 | 55072;55073;55074 | chr2:178602555;178602554;178602553 | chr2:179467282;179467281;179467280 |
| N2AB | 16642 | 50149;50150;50151 | chr2:178602555;178602554;178602553 | chr2:179467282;179467281;179467280 |
| N2A | 15715 | 47368;47369;47370 | chr2:178602555;178602554;178602553 | chr2:179467282;179467281;179467280 |
| N2B | 9218 | 27877;27878;27879 | chr2:178602555;178602554;178602553 | chr2:179467282;179467281;179467280 |
| Novex-1 | 9343 | 28252;28253;28254 | chr2:178602555;178602554;178602553 | chr2:179467282;179467281;179467280 |
| Novex-2 | 9410 | 28453;28454;28455 | chr2:178602555;178602554;178602553 | chr2:179467282;179467281;179467280 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | None | None | 1.0 | N | 0.628 | 0.344 | 0.40032279838 | gnomAD-4.0.0 | 7.03831E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.7019E-05 |
| D/Y | None | None | 1.0 | N | 0.621 | 0.498 | 0.65934590787 | gnomAD-4.0.0 | 2.11149E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.75066E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9187 | likely_pathogenic | 0.8917 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | N | 0.473093229 | None | None | N |
| D/C | 0.9893 | likely_pathogenic | 0.9834 | pathogenic | -0.057 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| D/E | 0.8084 | likely_pathogenic | 0.7244 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.379 | neutral | N | 0.443501041 | None | None | N |
| D/F | 0.9848 | likely_pathogenic | 0.9704 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| D/G | 0.7779 | likely_pathogenic | 0.6652 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.437692576 | None | None | N |
| D/H | 0.9651 | likely_pathogenic | 0.9399 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.615 | neutral | D | 0.525274275 | None | None | N |
| D/I | 0.9833 | likely_pathogenic | 0.9739 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/K | 0.9768 | likely_pathogenic | 0.9661 | pathogenic | 0.185 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| D/L | 0.9642 | likely_pathogenic | 0.944 | pathogenic | 0.155 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/M | 0.9911 | likely_pathogenic | 0.9821 | pathogenic | 0.404 | Stabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | N |
| D/N | 0.6525 | likely_pathogenic | 0.4427 | ambiguous | -0.253 | Destabilizing | 1.0 | D | 0.628 | neutral | N | 0.457662416 | None | None | N |
| D/P | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/Q | 0.9649 | likely_pathogenic | 0.9448 | pathogenic | -0.183 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| D/R | 0.9756 | likely_pathogenic | 0.9659 | pathogenic | 0.321 | Stabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| D/S | 0.8446 | likely_pathogenic | 0.7287 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| D/T | 0.9454 | likely_pathogenic | 0.9064 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/V | 0.9446 | likely_pathogenic | 0.9169 | pathogenic | -0.033 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.515249282 | None | None | N |
| D/W | 0.995 | likely_pathogenic | 0.9925 | pathogenic | -0.038 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| D/Y | 0.87 | likely_pathogenic | 0.8119 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.621 | neutral | N | 0.487234995 | 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.