Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33185 | 99778;99779;99780 | chr2:178537654;178537653;178537652 | chr2:179402381;179402380;179402379 |
| N2AB | 31544 | 94855;94856;94857 | chr2:178537654;178537653;178537652 | chr2:179402381;179402380;179402379 |
| N2A | 30617 | 92074;92075;92076 | chr2:178537654;178537653;178537652 | chr2:179402381;179402380;179402379 |
| N2B | 24120 | 72583;72584;72585 | chr2:178537654;178537653;178537652 | chr2:179402381;179402380;179402379 |
| Novex-1 | 24245 | 72958;72959;72960 | chr2:178537654;178537653;178537652 | chr2:179402381;179402380;179402379 |
| Novex-2 | 24312 | 73159;73160;73161 | chr2:178537654;178537653;178537652 | chr2:179402381;179402380;179402379 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/N | rs1377798768  |
None | 0.998 | N | 0.671 | 0.366 | 0.456738291233 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/N | rs1377798768 |
None | 0.998 | N | 0.671 | 0.366 | 0.456738291233 | gnomAD-4.0.0 | 3.71827E-06 | None | None | None | None | N | None | 4.00491E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54284E-06 | 0 | 0 |
| S/R | None | None | 1.0 | D | 0.885 | 0.529 | 0.367612772649 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | N | None | 5.65739E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1094 | likely_benign | 0.1208 | benign | -0.532 | Destabilizing | 0.998 | D | 0.551 | neutral | None | None | None | None | N |
| S/C | 0.1888 | likely_benign | 0.2424 | benign | -0.328 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.520943923 | None | None | N |
| S/D | 0.6793 | likely_pathogenic | 0.6984 | pathogenic | -0.425 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| S/E | 0.6595 | likely_pathogenic | 0.6349 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| S/F | 0.3837 | ambiguous | 0.4589 | ambiguous | -1.06 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| S/G | 0.1791 | likely_benign | 0.2149 | benign | -0.673 | Destabilizing | 1.0 | D | 0.625 | neutral | N | 0.516713961 | None | None | N |
| S/H | 0.5038 | ambiguous | 0.4782 | ambiguous | -1.258 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| S/I | 0.327 | likely_benign | 0.3848 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.901 | deleterious | N | 0.504547961 | None | None | N |
| S/K | 0.7634 | likely_pathogenic | 0.6867 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| S/L | 0.2429 | likely_benign | 0.3047 | benign | -0.282 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| S/M | 0.3499 | ambiguous | 0.3817 | ambiguous | 0.194 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| S/N | 0.2812 | likely_benign | 0.2912 | benign | -0.434 | Destabilizing | 0.998 | D | 0.671 | neutral | N | 0.496456885 | None | None | N |
| S/P | 0.9072 | likely_pathogenic | 0.9445 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| S/Q | 0.5689 | likely_pathogenic | 0.5211 | ambiguous | -0.776 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| S/R | 0.6466 | likely_pathogenic | 0.6187 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.526421573 | None | None | N |
| S/T | 0.0873 | likely_benign | 0.0897 | benign | -0.496 | Destabilizing | 0.988 | D | 0.593 | neutral | N | 0.491980926 | None | None | N |
| S/V | 0.2841 | likely_benign | 0.3289 | benign | -0.337 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| S/W | 0.664 | likely_pathogenic | 0.7629 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/Y | 0.3699 | ambiguous | 0.4425 | ambiguous | -0.762 | Destabilizing | 1.0 | D | 0.92 | 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.