Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23715 | 71368;71369;71370 | chr2:178574989;178574988;178574987 | chr2:179439716;179439715;179439714 |
| N2AB | 22074 | 66445;66446;66447 | chr2:178574989;178574988;178574987 | chr2:179439716;179439715;179439714 |
| N2A | 21147 | 63664;63665;63666 | chr2:178574989;178574988;178574987 | chr2:179439716;179439715;179439714 |
| N2B | 14650 | 44173;44174;44175 | chr2:178574989;178574988;178574987 | chr2:179439716;179439715;179439714 |
| Novex-1 | 14775 | 44548;44549;44550 | chr2:178574989;178574988;178574987 | chr2:179439716;179439715;179439714 |
| Novex-2 | 14842 | 44749;44750;44751 | chr2:178574989;178574988;178574987 | chr2:179439716;179439715;179439714 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs759011433  |
-0.362 | 0.014 | N | 0.325 | 0.227 | 0.42989457901 | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | I | None | 0 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| V/A | rs759011433 |
-0.362 | 0.014 | N | 0.325 | 0.227 | 0.42989457901 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9425E-04 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/A | rs759011433 |
-0.362 | 0.014 | N | 0.325 | 0.227 | 0.42989457901 | gnomAD-4.0.0 | 1.17783E-05 | None | None | None | None | I | None | 0 | 3.33545E-05 | None | 0 | 2.23904E-05 | None | 0 | 1.65235E-04 | 1.27172E-05 | 0 | 0 |
| V/D | rs759011433 |
-0.159 | 0.971 | N | 0.729 | 0.544 | 0.745999668302 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/D | rs759011433 |
-0.159 | 0.971 | N | 0.729 | 0.544 | 0.745999668302 | gnomAD-4.0.0 | 2.05327E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69889E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.0913 | likely_benign | 0.0892 | benign | -0.289 | Destabilizing | 0.014 | N | 0.325 | neutral | N | 0.471720297 | None | None | I |
| V/C | 0.7008 | likely_pathogenic | 0.6867 | pathogenic | -0.716 | Destabilizing | 0.994 | D | 0.609 | neutral | None | None | None | None | I |
| V/D | 0.3875 | ambiguous | 0.321 | benign | -0.36 | Destabilizing | 0.971 | D | 0.729 | prob.delet. | N | 0.465026398 | None | None | I |
| V/E | 0.3297 | likely_benign | 0.2876 | benign | -0.49 | Destabilizing | 0.956 | D | 0.673 | neutral | None | None | None | None | I |
| V/F | 0.2047 | likely_benign | 0.1803 | benign | -0.687 | Destabilizing | 0.942 | D | 0.618 | neutral | D | 0.523159195 | None | None | I |
| V/G | 0.2058 | likely_benign | 0.1915 | benign | -0.353 | Destabilizing | 0.89 | D | 0.681 | prob.neutral | N | 0.490722894 | None | None | I |
| V/H | 0.5562 | ambiguous | 0.5022 | ambiguous | 0.013 | Stabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | I |
| V/I | 0.081 | likely_benign | 0.0797 | benign | -0.275 | Destabilizing | 0.014 | N | 0.283 | neutral | N | 0.505913015 | None | None | I |
| V/K | 0.3152 | likely_benign | 0.2712 | benign | -0.327 | Destabilizing | 0.956 | D | 0.677 | prob.neutral | None | None | None | None | I |
| V/L | 0.256 | likely_benign | 0.2379 | benign | -0.275 | Destabilizing | 0.247 | N | 0.469 | neutral | N | 0.485847822 | None | None | I |
| V/M | 0.1541 | likely_benign | 0.1411 | benign | -0.431 | Destabilizing | 0.956 | D | 0.582 | neutral | None | None | None | None | I |
| V/N | 0.277 | likely_benign | 0.2454 | benign | -0.126 | Destabilizing | 0.978 | D | 0.741 | deleterious | None | None | None | None | I |
| V/P | 0.8491 | likely_pathogenic | 0.8081 | pathogenic | -0.25 | Destabilizing | 0.978 | D | 0.689 | prob.neutral | None | None | None | None | I |
| V/Q | 0.3377 | likely_benign | 0.3037 | benign | -0.377 | Destabilizing | 0.978 | D | 0.693 | prob.neutral | None | None | None | None | I |
| V/R | 0.3024 | likely_benign | 0.2537 | benign | 0.157 | Stabilizing | 0.978 | D | 0.742 | deleterious | None | None | None | None | I |
| V/S | 0.1593 | likely_benign | 0.1557 | benign | -0.417 | Destabilizing | 0.915 | D | 0.637 | neutral | None | None | None | None | I |
| V/T | 0.0908 | likely_benign | 0.0928 | benign | -0.456 | Destabilizing | 0.86 | D | 0.525 | neutral | None | None | None | None | I |
| V/W | 0.8486 | likely_pathogenic | 0.8001 | pathogenic | -0.749 | Destabilizing | 0.998 | D | 0.696 | prob.neutral | None | None | None | None | I |
| V/Y | 0.599 | likely_pathogenic | 0.5424 | ambiguous | -0.453 | Destabilizing | 0.978 | D | 0.625 | neutral | None | None | None | None | I |
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.