Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9765 | 29518;29519;29520 | chr2:178706581;178706580;178706579 | chr2:179571308;179571307;179571306 |
| N2AB | 9448 | 28567;28568;28569 | chr2:178706581;178706580;178706579 | chr2:179571308;179571307;179571306 |
| N2A | 8521 | 25786;25787;25788 | chr2:178706581;178706580;178706579 | chr2:179571308;179571307;179571306 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | None | 0.797 | 0.796 | 0.590730187373 | gnomAD-4.0.0 | 1.591E-06 | None | None | None | None | N | None | 5.65291E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9962 | likely_pathogenic | 0.9843 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/C | 0.9995 | likely_pathogenic | 0.9976 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/E | 0.9905 | likely_pathogenic | 0.97 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.58 | neutral | None | None | None | None | N |
| D/F | 0.9995 | likely_pathogenic | 0.9971 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| D/G | 0.9968 | likely_pathogenic | 0.9886 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/H | 0.9974 | likely_pathogenic | 0.9896 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/I | 0.9994 | likely_pathogenic | 0.9967 | pathogenic | 0.529 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/K | 0.999 | likely_pathogenic | 0.9966 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/L | 0.9987 | likely_pathogenic | 0.9946 | pathogenic | 0.529 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/M | 0.9998 | likely_pathogenic | 0.9989 | pathogenic | 1.08 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| D/N | 0.9848 | likely_pathogenic | 0.9454 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/P | 0.9997 | likely_pathogenic | 0.9991 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/Q | 0.999 | likely_pathogenic | 0.9961 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| D/R | 0.9987 | likely_pathogenic | 0.996 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| D/S | 0.9926 | likely_pathogenic | 0.9696 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/T | 0.9987 | likely_pathogenic | 0.994 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/V | 0.9975 | likely_pathogenic | 0.9884 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/W | 0.9999 | likely_pathogenic | 0.9995 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| D/Y | 0.9958 | likely_pathogenic | 0.98 | pathogenic | 0.022 | Stabilizing | 1.0 | D | 0.869 | 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.