Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25345 | 76258;76259;76260 | chr2:178570099;178570098;178570097 | chr2:179434826;179434825;179434824 |
| N2AB | 23704 | 71335;71336;71337 | chr2:178570099;178570098;178570097 | chr2:179434826;179434825;179434824 |
| N2A | 22777 | 68554;68555;68556 | chr2:178570099;178570098;178570097 | chr2:179434826;179434825;179434824 |
| N2B | 16280 | 49063;49064;49065 | chr2:178570099;178570098;178570097 | chr2:179434826;179434825;179434824 |
| Novex-1 | 16405 | 49438;49439;49440 | chr2:178570099;178570098;178570097 | chr2:179434826;179434825;179434824 |
| Novex-2 | 16472 | 49639;49640;49641 | chr2:178570099;178570098;178570097 | chr2:179434826;179434825;179434824 |
| 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 | rs776220122  |
-1.387 | 1.0 | N | 0.668 | 0.397 | 0.481915485015 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 1.29232E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs776220122 |
-1.387 | 1.0 | N | 0.668 | 0.397 | 0.481915485015 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs776220122 |
-1.387 | 1.0 | N | 0.668 | 0.397 | 0.481915485015 | gnomAD-4.0.0 | 3.84517E-06 | None | None | None | None | N | None | 5.07786E-05 | 0 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8 | likely_pathogenic | 0.7577 | pathogenic | -0.589 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | N | 0.470443732 | None | None | N |
| D/C | 0.9245 | likely_pathogenic | 0.915 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| D/E | 0.5786 | likely_pathogenic | 0.5793 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.447 | neutral | N | 0.421546901 | None | None | N |
| D/F | 0.9593 | likely_pathogenic | 0.9527 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/G | 0.7838 | likely_pathogenic | 0.7343 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.480345233 | None | None | N |
| D/H | 0.8464 | likely_pathogenic | 0.8084 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.482813995 | None | None | N |
| D/I | 0.9308 | likely_pathogenic | 0.9067 | pathogenic | 0.571 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/K | 0.9528 | likely_pathogenic | 0.9372 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| D/L | 0.8922 | likely_pathogenic | 0.866 | pathogenic | 0.571 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/M | 0.9636 | likely_pathogenic | 0.9532 | pathogenic | 1.209 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/N | 0.49 | ambiguous | 0.4221 | ambiguous | -1.639 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.476039593 | None | None | N |
| D/P | 0.9784 | likely_pathogenic | 0.9638 | pathogenic | 0.209 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| D/Q | 0.8783 | likely_pathogenic | 0.8474 | pathogenic | -1.307 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/R | 0.9379 | likely_pathogenic | 0.9191 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| D/S | 0.6176 | likely_pathogenic | 0.5506 | ambiguous | -2.111 | Highly Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| D/T | 0.8885 | likely_pathogenic | 0.8524 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| D/V | 0.8393 | likely_pathogenic | 0.7963 | pathogenic | 0.209 | Stabilizing | 1.0 | D | 0.812 | deleterious | N | 0.482813995 | None | None | N |
| D/W | 0.9853 | likely_pathogenic | 0.9814 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/Y | 0.7959 | likely_pathogenic | 0.7661 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.524644819 | 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.