Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14242 | 42949;42950;42951 | chr2:178633635;178633634;178633633 | chr2:179498362;179498361;179498360 |
| N2AB | 12601 | 38026;38027;38028 | chr2:178633635;178633634;178633633 | chr2:179498362;179498361;179498360 |
| N2A | 11674 | 35245;35246;35247 | chr2:178633635;178633634;178633633 | chr2:179498362;179498361;179498360 |
| N2B | 5177 | 15754;15755;15756 | chr2:178633635;178633634;178633633 | chr2:179498362;179498361;179498360 |
| Novex-1 | 5302 | 16129;16130;16131 | chr2:178633635;178633634;178633633 | chr2:179498362;179498361;179498360 |
| Novex-2 | 5369 | 16330;16331;16332 | chr2:178633635;178633634;178633633 | chr2:179498362;179498361;179498360 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | None | None | 0.908 | D | 0.743 | 0.467 | 0.515430650102 | gnomAD-4.0.0 | 1.36917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79937E-06 | 0 | 0 |
| A/G | rs769564228  |
-1.497 | 0.002 | N | 0.28 | 0.2 | 0.273503213844 | gnomAD-2.1.1 | 7.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| A/G | rs769564228 |
-1.497 | 0.002 | N | 0.28 | 0.2 | 0.273503213844 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs769564228 |
-1.497 | 0.002 | N | 0.28 | 0.2 | 0.273503213844 | gnomAD-4.0.0 | 3.10017E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23909E-06 | 0 | 0 |
| A/V | rs769564228 |
-0.571 | 0.908 | N | 0.64 | 0.146 | 0.297718772494 | gnomAD-2.1.1 | 1.08E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.36E-05 | 0 |
| A/V | rs769564228 |
-0.571 | 0.908 | N | 0.64 | 0.146 | 0.297718772494 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs769564228 |
-0.571 | 0.908 | N | 0.64 | 0.146 | 0.297718772494 | gnomAD-4.0.0 | 5.58031E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56548E-05 | 0 | 6.78255E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4683 | ambiguous | 0.3657 | ambiguous | -1.029 | Destabilizing | 0.993 | D | 0.729 | prob.delet. | None | None | None | None | N |
| A/D | 0.6788 | likely_pathogenic | 0.4596 | ambiguous | -1.61 | Destabilizing | 0.866 | D | 0.751 | deleterious | None | None | None | None | N |
| A/E | 0.6446 | likely_pathogenic | 0.4392 | ambiguous | -1.666 | Destabilizing | 0.908 | D | 0.743 | deleterious | D | 0.697318486 | None | None | N |
| A/F | 0.5973 | likely_pathogenic | 0.4482 | ambiguous | -1.225 | Destabilizing | 0.976 | D | 0.777 | deleterious | None | None | None | None | N |
| A/G | 0.0979 | likely_benign | 0.0657 | benign | -1.26 | Destabilizing | 0.002 | N | 0.28 | neutral | N | 0.518174553 | None | None | N |
| A/H | 0.8236 | likely_pathogenic | 0.686 | pathogenic | -1.416 | Destabilizing | 0.993 | D | 0.755 | deleterious | None | None | None | None | N |
| A/I | 0.3801 | ambiguous | 0.2855 | benign | -0.556 | Destabilizing | 0.929 | D | 0.768 | deleterious | None | None | None | None | N |
| A/K | 0.8311 | likely_pathogenic | 0.649 | pathogenic | -1.354 | Destabilizing | 0.866 | D | 0.743 | deleterious | None | None | None | None | N |
| A/L | 0.3775 | ambiguous | 0.2621 | benign | -0.556 | Destabilizing | 0.866 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/M | 0.4193 | ambiguous | 0.327 | benign | -0.387 | Destabilizing | 0.993 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/N | 0.6243 | likely_pathogenic | 0.4437 | ambiguous | -1.058 | Destabilizing | 0.866 | D | 0.756 | deleterious | None | None | None | None | N |
| A/P | 0.9254 | likely_pathogenic | 0.7897 | pathogenic | -0.674 | Destabilizing | 0.908 | D | 0.769 | deleterious | D | 0.681589647 | None | None | N |
| A/Q | 0.6781 | likely_pathogenic | 0.5241 | ambiguous | -1.287 | Destabilizing | 0.929 | D | 0.771 | deleterious | None | None | None | None | N |
| A/R | 0.7794 | likely_pathogenic | 0.5472 | ambiguous | -0.924 | Destabilizing | 0.929 | D | 0.769 | deleterious | None | None | None | None | N |
| A/S | 0.1411 | likely_benign | 0.1178 | benign | -1.347 | Destabilizing | 0.41 | N | 0.522 | neutral | D | 0.572762308 | None | None | N |
| A/T | 0.1353 | likely_benign | 0.118 | benign | -1.323 | Destabilizing | 0.83 | D | 0.687 | prob.neutral | D | 0.576731901 | None | None | N |
| A/V | 0.1777 | likely_benign | 0.1435 | benign | -0.674 | Destabilizing | 0.908 | D | 0.64 | neutral | N | 0.481993584 | None | None | N |
| A/W | 0.9119 | likely_pathogenic | 0.7647 | pathogenic | -1.527 | Destabilizing | 0.993 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/Y | 0.7755 | likely_pathogenic | 0.6161 | pathogenic | -1.163 | Destabilizing | 0.993 | D | 0.774 | deleterious | 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.