Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31737 | 95434;95435;95436 | chr2:178546027;178546026;178546025 | chr2:179410754;179410753;179410752 |
| N2AB | 30096 | 90511;90512;90513 | chr2:178546027;178546026;178546025 | chr2:179410754;179410753;179410752 |
| N2A | 29169 | 87730;87731;87732 | chr2:178546027;178546026;178546025 | chr2:179410754;179410753;179410752 |
| N2B | 22672 | 68239;68240;68241 | chr2:178546027;178546026;178546025 | chr2:179410754;179410753;179410752 |
| Novex-1 | 22797 | 68614;68615;68616 | chr2:178546027;178546026;178546025 | chr2:179410754;179410753;179410752 |
| Novex-2 | 22864 | 68815;68816;68817 | chr2:178546027;178546026;178546025 | chr2:179410754;179410753;179410752 |
| 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/E | rs1696939367  |
None | 1.0 | D | 0.793 | 0.66 | 0.683185250435 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs1696939367 |
None | 1.0 | D | 0.793 | 0.66 | 0.683185250435 | gnomAD-4.0.0 | 6.57099E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46985E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6533 | likely_pathogenic | 0.7062 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.516795504 | None | None | I |
| G/C | 0.6588 | likely_pathogenic | 0.7186 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/D | 0.9031 | likely_pathogenic | 0.9077 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| G/E | 0.9205 | likely_pathogenic | 0.9261 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.530722703 | None | None | I |
| G/F | 0.9525 | likely_pathogenic | 0.9593 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.9379 | likely_pathogenic | 0.9509 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/I | 0.9585 | likely_pathogenic | 0.9621 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/K | 0.9575 | likely_pathogenic | 0.9647 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/L | 0.9301 | likely_pathogenic | 0.9372 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9358 | likely_pathogenic | 0.9446 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/N | 0.8448 | likely_pathogenic | 0.8668 | pathogenic | -0.236 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/P | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.899 | likely_pathogenic | 0.9153 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/R | 0.9011 | likely_pathogenic | 0.9198 | pathogenic | -0.181 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.523569907 | None | None | I |
| G/S | 0.4834 | ambiguous | 0.5337 | ambiguous | -0.402 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| G/T | 0.8635 | likely_pathogenic | 0.8783 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/V | 0.9203 | likely_pathogenic | 0.9287 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.556170792 | None | None | I |
| G/W | 0.9461 | likely_pathogenic | 0.9585 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.9323 | likely_pathogenic | 0.9472 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.773 | deleterious | 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.