Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17873 | 53842;53843;53844 | chr2:178605678;178605677;178605676 | chr2:179470405;179470404;179470403 |
| N2AB | 16232 | 48919;48920;48921 | chr2:178605678;178605677;178605676 | chr2:179470405;179470404;179470403 |
| N2A | 15305 | 46138;46139;46140 | chr2:178605678;178605677;178605676 | chr2:179470405;179470404;179470403 |
| N2B | 8808 | 26647;26648;26649 | chr2:178605678;178605677;178605676 | chr2:179470405;179470404;179470403 |
| Novex-1 | 8933 | 27022;27023;27024 | chr2:178605678;178605677;178605676 | chr2:179470405;179470404;179470403 |
| Novex-2 | 9000 | 27223;27224;27225 | chr2:178605678;178605677;178605676 | chr2:179470405;179470404;179470403 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | 1.0 | N | 0.593 | 0.502 | 0.464183351471 | gnomAD-4.0.0 | 4.8694E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.76834E-06 | 0 | 0 |
| E/Q | None | None | 1.0 | N | 0.583 | 0.281 | 0.302459207581 | gnomAD-4.0.0 | 3.24992E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.60036E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7338 | likely_pathogenic | 0.7046 | pathogenic | -0.541 | Destabilizing | 0.999 | D | 0.617 | neutral | N | 0.474594739 | None | None | N |
| E/C | 0.987 | likely_pathogenic | 0.987 | pathogenic | -0.098 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| E/D | 0.5299 | ambiguous | 0.4846 | ambiguous | -0.471 | Destabilizing | 0.999 | D | 0.416 | neutral | N | 0.443637113 | None | None | N |
| E/F | 0.9895 | likely_pathogenic | 0.9856 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| E/G | 0.736 | likely_pathogenic | 0.706 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.593 | neutral | N | 0.514171847 | None | None | N |
| E/H | 0.9465 | likely_pathogenic | 0.9386 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| E/I | 0.9605 | likely_pathogenic | 0.9437 | pathogenic | 0.104 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| E/K | 0.8179 | likely_pathogenic | 0.7971 | pathogenic | 0.264 | Stabilizing | 0.999 | D | 0.57 | neutral | N | 0.495471443 | None | None | N |
| E/L | 0.9536 | likely_pathogenic | 0.9406 | pathogenic | 0.104 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| E/M | 0.9536 | likely_pathogenic | 0.9403 | pathogenic | 0.28 | Stabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | N |
| E/N | 0.8573 | likely_pathogenic | 0.8397 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| E/P | 0.9962 | likely_pathogenic | 0.9949 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| E/Q | 0.5833 | likely_pathogenic | 0.5657 | pathogenic | -0.138 | Destabilizing | 1.0 | D | 0.583 | neutral | N | 0.469041834 | None | None | N |
| E/R | 0.874 | likely_pathogenic | 0.8631 | pathogenic | 0.485 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| E/S | 0.7508 | likely_pathogenic | 0.7174 | pathogenic | -0.378 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| E/T | 0.8635 | likely_pathogenic | 0.8326 | pathogenic | -0.166 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| E/V | 0.884 | likely_pathogenic | 0.8408 | pathogenic | -0.09 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.476448121 | None | None | N |
| E/W | 0.9957 | likely_pathogenic | 0.9946 | pathogenic | -0.007 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| E/Y | 0.9777 | likely_pathogenic | 0.9718 | pathogenic | 0.032 | Stabilizing | 1.0 | D | 0.605 | 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.