Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24901 | 74926;74927;74928 | chr2:178571431;178571430;178571429 | chr2:179436158;179436157;179436156 |
| N2AB | 23260 | 70003;70004;70005 | chr2:178571431;178571430;178571429 | chr2:179436158;179436157;179436156 |
| N2A | 22333 | 67222;67223;67224 | chr2:178571431;178571430;178571429 | chr2:179436158;179436157;179436156 |
| N2B | 15836 | 47731;47732;47733 | chr2:178571431;178571430;178571429 | chr2:179436158;179436157;179436156 |
| Novex-1 | 15961 | 48106;48107;48108 | chr2:178571431;178571430;178571429 | chr2:179436158;179436157;179436156 |
| Novex-2 | 16028 | 48307;48308;48309 | chr2:178571431;178571430;178571429 | chr2:179436158;179436157;179436156 |
| 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/I | rs766110889  |
-0.251 | None | N | 0.197 | 0.095 | 0.223146558224 | gnomAD-2.1.1 | 1.08774E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 8.82526E-04 | None | 0 | 0 | 0 |
| V/I | rs766110889 |
-0.251 | None | N | 0.197 | 0.095 | 0.223146558224 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| V/I | rs766110889 |
-0.251 | None | N | 0.197 | 0.095 | 0.223146558224 | gnomAD-4.0.0 | 4.09089E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54326E-06 | 6.69741E-04 | 3.20338E-05 |
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 | 0.2588 | likely_benign | 0.2569 | benign | -0.872 | Destabilizing | 0.115 | N | 0.561 | neutral | N | 0.469426093 | None | None | N |
| V/C | 0.7383 | likely_pathogenic | 0.7377 | pathogenic | -0.78 | Destabilizing | 0.934 | D | 0.729 | deleterious | None | None | None | None | N |
| V/D | 0.6819 | likely_pathogenic | 0.6818 | pathogenic | -0.517 | Destabilizing | 0.552 | D | 0.838 | deleterious | None | None | None | None | N |
| V/E | 0.4683 | ambiguous | 0.4555 | ambiguous | -0.595 | Destabilizing | 0.481 | N | 0.789 | deleterious | N | 0.480528909 | None | None | N |
| V/F | 0.2257 | likely_benign | 0.2395 | benign | -0.847 | Destabilizing | 0.001 | N | 0.472 | neutral | None | None | None | None | N |
| V/G | 0.5128 | ambiguous | 0.4964 | ambiguous | -1.079 | Destabilizing | 0.481 | N | 0.79 | deleterious | N | 0.50040759 | None | None | N |
| V/H | 0.6868 | likely_pathogenic | 0.6797 | pathogenic | -0.549 | Destabilizing | 0.934 | D | 0.81 | deleterious | None | None | None | None | N |
| V/I | 0.066 | likely_benign | 0.0685 | benign | -0.451 | Destabilizing | None | N | 0.197 | neutral | N | 0.467548549 | None | None | N |
| V/K | 0.4313 | ambiguous | 0.413 | ambiguous | -0.731 | Destabilizing | 0.552 | D | 0.795 | deleterious | None | None | None | None | N |
| V/L | 0.15 | likely_benign | 0.1635 | benign | -0.451 | Destabilizing | 0.009 | N | 0.499 | neutral | N | 0.47716811 | None | None | N |
| V/M | 0.1388 | likely_benign | 0.1369 | benign | -0.405 | Destabilizing | 0.378 | N | 0.627 | neutral | None | None | None | None | N |
| V/N | 0.4419 | ambiguous | 0.4744 | ambiguous | -0.487 | Destabilizing | 0.789 | D | 0.828 | deleterious | None | None | None | None | N |
| V/P | 0.649 | likely_pathogenic | 0.6758 | pathogenic | -0.555 | Destabilizing | 0.789 | D | 0.799 | deleterious | None | None | None | None | N |
| V/Q | 0.4437 | ambiguous | 0.4284 | ambiguous | -0.724 | Destabilizing | 0.789 | D | 0.789 | deleterious | None | None | None | None | N |
| V/R | 0.401 | ambiguous | 0.3732 | ambiguous | -0.168 | Destabilizing | 0.552 | D | 0.821 | deleterious | None | None | None | None | N |
| V/S | 0.3668 | ambiguous | 0.3711 | ambiguous | -0.941 | Destabilizing | 0.552 | D | 0.729 | deleterious | None | None | None | None | N |
| V/T | 0.1606 | likely_benign | 0.1647 | benign | -0.912 | Destabilizing | 0.147 | N | 0.631 | neutral | None | None | None | None | N |
| V/W | 0.8529 | likely_pathogenic | 0.8476 | pathogenic | -0.927 | Destabilizing | 0.934 | D | 0.797 | deleterious | None | None | None | None | N |
| V/Y | 0.5961 | likely_pathogenic | 0.6047 | pathogenic | -0.641 | Destabilizing | 0.233 | N | 0.735 | 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.