Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29422 | 88489;88490;88491 | chr2:178556890;178556889;178556888 | chr2:179421617;179421616;179421615 |
| N2AB | 27781 | 83566;83567;83568 | chr2:178556890;178556889;178556888 | chr2:179421617;179421616;179421615 |
| N2A | 26854 | 80785;80786;80787 | chr2:178556890;178556889;178556888 | chr2:179421617;179421616;179421615 |
| N2B | 20357 | 61294;61295;61296 | chr2:178556890;178556889;178556888 | chr2:179421617;179421616;179421615 |
| Novex-1 | 20482 | 61669;61670;61671 | chr2:178556890;178556889;178556888 | chr2:179421617;179421616;179421615 |
| Novex-2 | 20549 | 61870;61871;61872 | chr2:178556890;178556889;178556888 | chr2:179421617;179421616;179421615 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1414305688  |
-1.484 | 1.0 | N | 0.726 | 0.378 | 0.315609569513 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| P/A | rs1414305688 |
-1.484 | 1.0 | N | 0.726 | 0.378 | 0.315609569513 | gnomAD-4.0.0 | 3.18278E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 4.82393E-04 | 0 | 0 | 0 |
| P/L | rs753410959 |
-0.539 | 1.0 | N | 0.821 | 0.443 | 0.626407189966 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| P/L | rs753410959 |
-0.539 | 1.0 | N | 0.821 | 0.443 | 0.626407189966 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/L | rs753410959 |
-0.539 | 1.0 | N | 0.821 | 0.443 | 0.626407189966 | gnomAD-4.0.0 | 8.67591E-06 | None | None | None | None | I | None | 0 | 1.66694E-05 | None | 0 | 0 | None | 0 | 0 | 9.32344E-06 | 2.19573E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1808 | likely_benign | 0.1356 | benign | -1.361 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | N | 0.474316575 | None | None | I |
| P/C | 0.8957 | likely_pathogenic | 0.831 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| P/D | 0.9749 | likely_pathogenic | 0.9471 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| P/E | 0.9029 | likely_pathogenic | 0.8281 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| P/F | 0.9499 | likely_pathogenic | 0.899 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| P/G | 0.7428 | likely_pathogenic | 0.6481 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| P/H | 0.797 | likely_pathogenic | 0.68 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| P/I | 0.8877 | likely_pathogenic | 0.7867 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| P/K | 0.9248 | likely_pathogenic | 0.8512 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| P/L | 0.7153 | likely_pathogenic | 0.5462 | ambiguous | -0.675 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.512500094 | None | None | I |
| P/M | 0.8917 | likely_pathogenic | 0.8192 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| P/N | 0.9407 | likely_pathogenic | 0.886 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| P/Q | 0.7546 | likely_pathogenic | 0.6245 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.529669751 | None | None | I |
| P/R | 0.8238 | likely_pathogenic | 0.6833 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.506285577 | None | None | I |
| P/S | 0.4983 | ambiguous | 0.3836 | ambiguous | -1.327 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.500511906 | None | None | I |
| P/T | 0.6019 | likely_pathogenic | 0.4418 | ambiguous | -1.237 | Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.529162772 | None | None | I |
| P/V | 0.7726 | likely_pathogenic | 0.6324 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| P/W | 0.9815 | likely_pathogenic | 0.962 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| P/Y | 0.9424 | likely_pathogenic | 0.8905 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.862 | 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.