Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32981 | 99166;99167;99168 | chr2:178538994;178538993;178538992 | chr2:179403721;179403720;179403719 |
| N2AB | 31340 | 94243;94244;94245 | chr2:178538994;178538993;178538992 | chr2:179403721;179403720;179403719 |
| N2A | 30413 | 91462;91463;91464 | chr2:178538994;178538993;178538992 | chr2:179403721;179403720;179403719 |
| N2B | 23916 | 71971;71972;71973 | chr2:178538994;178538993;178538992 | chr2:179403721;179403720;179403719 |
| Novex-1 | 24041 | 72346;72347;72348 | chr2:178538994;178538993;178538992 | chr2:179403721;179403720;179403719 |
| Novex-2 | 24108 | 72547;72548;72549 | chr2:178538994;178538993;178538992 | chr2:179403721;179403720;179403719 |
| 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/C | rs1316479565  |
-1.152 | 0.999 | D | 0.731 | 0.512 | 0.427596317008 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| S/C | rs1316479565 |
-1.152 | 0.999 | D | 0.731 | 0.512 | 0.427596317008 | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02663E-05 |
| S/G | None | None | 0.02 | N | 0.449 | 0.087 | 0.0884992946249 | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43316E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5757 | likely_pathogenic | 0.4751 | ambiguous | -0.769 | Destabilizing | 0.807 | D | 0.686 | prob.neutral | None | None | None | None | N |
| S/C | 0.8011 | likely_pathogenic | 0.7138 | pathogenic | -0.659 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | D | 0.543526451 | None | None | N |
| S/D | 0.9906 | likely_pathogenic | 0.9877 | pathogenic | -0.953 | Destabilizing | 0.976 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/E | 0.9959 | likely_pathogenic | 0.9935 | pathogenic | -0.886 | Destabilizing | 0.976 | D | 0.743 | deleterious | None | None | None | None | N |
| S/F | 0.9972 | likely_pathogenic | 0.9951 | pathogenic | -0.651 | Destabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | N |
| S/G | 0.1834 | likely_benign | 0.1618 | benign | -1.085 | Destabilizing | 0.02 | N | 0.449 | neutral | N | 0.487744889 | None | None | N |
| S/H | 0.9914 | likely_pathogenic | 0.9883 | pathogenic | -1.495 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| S/I | 0.997 | likely_pathogenic | 0.9932 | pathogenic | -0.012 | Destabilizing | 0.997 | D | 0.791 | deleterious | D | 0.543019471 | None | None | N |
| S/K | 0.9992 | likely_pathogenic | 0.9987 | pathogenic | -0.82 | Destabilizing | 0.976 | D | 0.742 | deleterious | None | None | None | None | N |
| S/L | 0.9771 | likely_pathogenic | 0.9577 | pathogenic | -0.012 | Destabilizing | 0.993 | D | 0.762 | deleterious | None | None | None | None | N |
| S/M | 0.9873 | likely_pathogenic | 0.9767 | pathogenic | 0.124 | Stabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | None | None | N |
| S/N | 0.9703 | likely_pathogenic | 0.9572 | pathogenic | -1.009 | Destabilizing | 0.939 | D | 0.72 | prob.delet. | D | 0.542765982 | None | None | N |
| S/P | 0.9959 | likely_pathogenic | 0.9946 | pathogenic | -0.23 | Destabilizing | 0.998 | D | 0.751 | deleterious | None | None | None | None | N |
| S/Q | 0.9939 | likely_pathogenic | 0.9913 | pathogenic | -1.053 | Destabilizing | 0.998 | D | 0.747 | deleterious | None | None | None | None | N |
| S/R | 0.9982 | likely_pathogenic | 0.9971 | pathogenic | -0.821 | Destabilizing | 0.991 | D | 0.757 | deleterious | D | 0.523812353 | None | None | N |
| S/T | 0.81 | likely_pathogenic | 0.7589 | pathogenic | -0.882 | Destabilizing | 0.969 | D | 0.699 | prob.neutral | D | 0.531156187 | None | None | N |
| S/V | 0.9944 | likely_pathogenic | 0.9888 | pathogenic | -0.23 | Destabilizing | 0.993 | D | 0.773 | deleterious | None | None | None | None | N |
| S/W | 0.9968 | likely_pathogenic | 0.9949 | pathogenic | -0.722 | Destabilizing | 0.999 | D | 0.826 | deleterious | None | None | None | None | N |
| S/Y | 0.9948 | likely_pathogenic | 0.9905 | pathogenic | -0.418 | Destabilizing | 0.998 | D | 0.798 | 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.