Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30631 | 92116;92117;92118 | chr2:178549831;178549830;178549829 | chr2:179414558;179414557;179414556 |
| N2AB | 28990 | 87193;87194;87195 | chr2:178549831;178549830;178549829 | chr2:179414558;179414557;179414556 |
| N2A | 28063 | 84412;84413;84414 | chr2:178549831;178549830;178549829 | chr2:179414558;179414557;179414556 |
| N2B | 21566 | 64921;64922;64923 | chr2:178549831;178549830;178549829 | chr2:179414558;179414557;179414556 |
| Novex-1 | 21691 | 65296;65297;65298 | chr2:178549831;178549830;178549829 | chr2:179414558;179414557;179414556 |
| Novex-2 | 21758 | 65497;65498;65499 | chr2:178549831;178549830;178549829 | chr2:179414558;179414557;179414556 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/I | None | None | 0.949 | N | 0.667 | 0.267 | 0.40722173914 | gnomAD-4.0.0 | 1.38887E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.81867E-06 | 0 | 0 |
| N/S | rs755738504  |
-0.041 | 0.034 | N | 0.233 | 0.082 | 0.0762999501168 | gnomAD-2.1.1 | 4.23E-05 | None | None | None | None | N | None | 0 | 3.12E-05 | None | 0 | 1.70049E-04 | None | 7.3E-05 | None | 0 | 3.69E-05 | 0 |
| N/S | rs755738504 |
-0.041 | 0.034 | N | 0.233 | 0.082 | 0.0762999501168 | gnomAD-4.0.0 | 2.08331E-05 | None | None | None | None | N | None | 0 | 2.36351E-05 | None | 0 | 1.27078E-04 | None | 0 | 0 | 1.81867E-05 | 4.82125E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1771 | likely_benign | 0.2351 | benign | -0.452 | Destabilizing | 0.633 | D | 0.558 | neutral | None | None | None | None | N |
| N/C | 0.2906 | likely_benign | 0.3412 | ambiguous | 0.4 | Stabilizing | 0.996 | D | 0.682 | prob.neutral | None | None | None | None | N |
| N/D | 0.1113 | likely_benign | 0.1724 | benign | -0.056 | Destabilizing | 0.722 | D | 0.539 | neutral | N | 0.423184483 | None | None | N |
| N/E | 0.3422 | ambiguous | 0.4875 | ambiguous | -0.061 | Destabilizing | 0.775 | D | 0.535 | neutral | None | None | None | None | N |
| N/F | 0.6054 | likely_pathogenic | 0.7361 | pathogenic | -0.615 | Destabilizing | 0.961 | D | 0.669 | neutral | None | None | None | None | N |
| N/G | 0.1894 | likely_benign | 0.2232 | benign | -0.684 | Destabilizing | 0.005 | N | 0.138 | neutral | None | None | None | None | N |
| N/H | 0.104 | likely_benign | 0.1209 | benign | -0.698 | Destabilizing | 0.949 | D | 0.546 | neutral | N | 0.503456208 | None | None | N |
| N/I | 0.4311 | ambiguous | 0.5399 | ambiguous | 0.086 | Stabilizing | 0.949 | D | 0.667 | neutral | N | 0.472600233 | None | None | N |
| N/K | 0.3143 | likely_benign | 0.4175 | ambiguous | -0.064 | Destabilizing | 0.565 | D | 0.523 | neutral | N | 0.454278182 | None | None | N |
| N/L | 0.3312 | likely_benign | 0.4147 | ambiguous | 0.086 | Stabilizing | 0.923 | D | 0.581 | neutral | None | None | None | None | N |
| N/M | 0.4044 | ambiguous | 0.4987 | ambiguous | 0.508 | Stabilizing | 0.996 | D | 0.627 | neutral | None | None | None | None | N |
| N/P | 0.848 | likely_pathogenic | 0.9011 | pathogenic | -0.065 | Destabilizing | 0.961 | D | 0.633 | neutral | None | None | None | None | N |
| N/Q | 0.3017 | likely_benign | 0.3775 | ambiguous | -0.469 | Destabilizing | 0.923 | D | 0.535 | neutral | None | None | None | None | N |
| N/R | 0.3219 | likely_benign | 0.439 | ambiguous | -0.042 | Destabilizing | 0.923 | D | 0.527 | neutral | None | None | None | None | N |
| N/S | 0.0741 | likely_benign | 0.0836 | benign | -0.286 | Destabilizing | 0.034 | N | 0.233 | neutral | N | 0.433766836 | None | None | N |
| N/T | 0.1474 | likely_benign | 0.1775 | benign | -0.137 | Destabilizing | 0.565 | D | 0.51 | neutral | N | 0.498279675 | None | None | N |
| N/V | 0.3557 | ambiguous | 0.4456 | ambiguous | -0.065 | Destabilizing | 0.923 | D | 0.649 | neutral | None | None | None | None | N |
| N/W | 0.7782 | likely_pathogenic | 0.8603 | pathogenic | -0.538 | Destabilizing | 0.996 | D | 0.718 | prob.delet. | None | None | None | None | N |
| N/Y | 0.2123 | likely_benign | 0.2768 | benign | -0.31 | Destabilizing | 0.983 | D | 0.639 | neutral | N | 0.514230562 | 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.