Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18127 | 54604;54605;54606 | chr2:178604710;178604709;178604708 | chr2:179469437;179469436;179469435 |
| N2AB | 16486 | 49681;49682;49683 | chr2:178604710;178604709;178604708 | chr2:179469437;179469436;179469435 |
| N2A | 15559 | 46900;46901;46902 | chr2:178604710;178604709;178604708 | chr2:179469437;179469436;179469435 |
| N2B | 9062 | 27409;27410;27411 | chr2:178604710;178604709;178604708 | chr2:179469437;179469436;179469435 |
| Novex-1 | 9187 | 27784;27785;27786 | chr2:178604710;178604709;178604708 | chr2:179469437;179469436;179469435 |
| Novex-2 | 9254 | 27985;27986;27987 | chr2:178604710;178604709;178604708 | chr2:179469437;179469436;179469435 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs371971395  |
0.374 | 0.999 | N | 0.573 | 0.324 | None | gnomAD-2.1.1 | 7.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| G/A | rs371971395 |
0.374 | 0.999 | N | 0.573 | 0.324 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/A | rs371971395 |
0.374 | 0.999 | N | 0.573 | 0.324 | None | gnomAD-4.0.0 | 1.87025E-05 | None | None | None | None | N | None | 1.34488E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.04224E-05 | 0 | 8.05906E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3208 | likely_benign | 0.2704 | benign | -0.123 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.425819357 | None | None | N |
| G/C | 0.6704 | likely_pathogenic | 0.5278 | ambiguous | 0.071 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/D | 0.9616 | likely_pathogenic | 0.9467 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/E | 0.9331 | likely_pathogenic | 0.9145 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.421720259 | None | None | N |
| G/F | 0.9649 | likely_pathogenic | 0.9565 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/H | 0.9398 | likely_pathogenic | 0.9134 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.8449 | likely_pathogenic | 0.7879 | pathogenic | 0.741 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| G/K | 0.9446 | likely_pathogenic | 0.9318 | pathogenic | -0.232 | Destabilizing | 0.991 | D | 0.571 | neutral | None | None | None | None | N |
| G/L | 0.909 | likely_pathogenic | 0.8853 | pathogenic | 0.741 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/M | 0.9117 | likely_pathogenic | 0.8949 | pathogenic | 0.55 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/N | 0.8852 | likely_pathogenic | 0.8661 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/P | 0.9129 | likely_pathogenic | 0.9141 | pathogenic | 0.495 | Stabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/Q | 0.8931 | likely_pathogenic | 0.8794 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/R | 0.8888 | likely_pathogenic | 0.851 | pathogenic | -0.427 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.417469232 | None | None | N |
| G/S | 0.397 | ambiguous | 0.3275 | benign | -0.668 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| G/T | 0.7159 | likely_pathogenic | 0.6195 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/V | 0.7499 | likely_pathogenic | 0.6625 | pathogenic | 0.495 | Stabilizing | 1.0 | D | 0.866 | deleterious | N | 0.409772469 | None | None | N |
| G/W | 0.9323 | likely_pathogenic | 0.9027 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.518614875 | None | None | N |
| G/Y | 0.9402 | likely_pathogenic | 0.9171 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.882 | 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.