Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2918 | 8977;8978;8979 | chr2:178769829;178769828;178769827 | chr2:179634556;179634555;179634554 |
| N2AB | 2918 | 8977;8978;8979 | chr2:178769829;178769828;178769827 | chr2:179634556;179634555;179634554 |
| N2A | 2918 | 8977;8978;8979 | chr2:178769829;178769828;178769827 | chr2:179634556;179634555;179634554 |
| N2B | 2872 | 8839;8840;8841 | chr2:178769829;178769828;178769827 | chr2:179634556;179634555;179634554 |
| Novex-1 | 2872 | 8839;8840;8841 | chr2:178769829;178769828;178769827 | chr2:179634556;179634555;179634554 |
| Novex-2 | 2872 | 8839;8840;8841 | chr2:178769829;178769828;178769827 | chr2:179634556;179634555;179634554 |
| Novex-3 | 2918 | 8977;8978;8979 | chr2:178769829;178769828;178769827 | chr2:179634556;179634555;179634554 |
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 | rs746575522  |
-0.261 | 1.0 | D | 0.558 | 0.731 | 0.601359937655 | gnomAD-2.1.1 | 1.06E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 1.19427E-04 | 0 | 0 |
| G/A | rs746575522 |
-0.261 | 1.0 | D | 0.558 | 0.731 | 0.601359937655 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 1.89E-04 | 0 | 0 | 0 | 0 |
| G/A | rs746575522 |
-0.261 | 1.0 | D | 0.558 | 0.731 | 0.601359937655 | gnomAD-4.0.0 | 7.68397E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.4162E-05 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.65 | 0.812 | 0.871665977118 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.5984 | likely_pathogenic | 0.5311 | ambiguous | -0.285 | Destabilizing | 1.0 | D | 0.558 | neutral | D | 0.779330729 | None | None | N |
| G/C | 0.7917 | likely_pathogenic | 0.727 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | D | 0.777490471 | None | None | N |
| G/D | 0.4476 | ambiguous | 0.3648 | ambiguous | -0.624 | Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.551189546 | None | None | N |
| G/E | 0.6565 | likely_pathogenic | 0.5801 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| G/F | 0.9803 | likely_pathogenic | 0.9706 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/H | 0.8029 | likely_pathogenic | 0.7727 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/I | 0.9625 | likely_pathogenic | 0.9385 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| G/K | 0.7708 | likely_pathogenic | 0.7465 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| G/L | 0.9596 | likely_pathogenic | 0.9424 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/M | 0.9472 | likely_pathogenic | 0.9299 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| G/N | 0.4847 | ambiguous | 0.4299 | ambiguous | -0.522 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| G/P | 0.9984 | likely_pathogenic | 0.9975 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| G/Q | 0.7042 | likely_pathogenic | 0.6688 | pathogenic | -0.807 | Destabilizing | 1.0 | D | 0.668 | neutral | None | None | None | None | N |
| G/R | 0.6646 | likely_pathogenic | 0.6221 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.65 | neutral | D | 0.721039764 | None | None | N |
| G/S | 0.2691 | likely_benign | 0.2332 | benign | -0.659 | Destabilizing | 1.0 | D | 0.648 | neutral | D | 0.615430122 | None | None | N |
| G/T | 0.7406 | likely_pathogenic | 0.6736 | pathogenic | -0.755 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| G/V | 0.9307 | likely_pathogenic | 0.8935 | pathogenic | -0.379 | Destabilizing | 1.0 | D | 0.635 | neutral | D | 0.777490471 | None | None | N |
| G/W | 0.9567 | likely_pathogenic | 0.935 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/Y | 0.9448 | likely_pathogenic | 0.9195 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.678 | prob.neutral | 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.