Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24990 | 75193;75194;75195 | chr2:178571164;178571163;178571162 | chr2:179435891;179435890;179435889 |
| N2AB | 23349 | 70270;70271;70272 | chr2:178571164;178571163;178571162 | chr2:179435891;179435890;179435889 |
| N2A | 22422 | 67489;67490;67491 | chr2:178571164;178571163;178571162 | chr2:179435891;179435890;179435889 |
| N2B | 15925 | 47998;47999;48000 | chr2:178571164;178571163;178571162 | chr2:179435891;179435890;179435889 |
| Novex-1 | 16050 | 48373;48374;48375 | chr2:178571164;178571163;178571162 | chr2:179435891;179435890;179435889 |
| Novex-2 | 16117 | 48574;48575;48576 | chr2:178571164;178571163;178571162 | chr2:179435891;179435890;179435889 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | None | None | 1.0 | D | 0.873 | 0.744 | 0.858542851913 | gnomAD-4.0.0 | 6.84333E-07 | None | None | None | None | I | None | 2.98954E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs727503561  |
None | 1.0 | D | 0.821 | 0.746 | 0.509820907775 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs727503561 |
None | 1.0 | D | 0.821 | 0.746 | 0.509820907775 | gnomAD-4.0.0 | 6.19823E-06 | None | None | None | None | I | None | 0 | 3.335E-05 | None | 0 | 1.78484E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs794729247 |
None | 1.0 | D | 0.854 | 0.742 | 0.910454590223 | gnomAD-4.0.0 | 1.36868E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.31884E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8514 | likely_pathogenic | 0.8715 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.574064919 | None | None | I |
| G/C | 0.9305 | likely_pathogenic | 0.9435 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.575332366 | None | None | I |
| G/D | 0.9554 | likely_pathogenic | 0.9633 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.547059894 | None | None | I |
| G/E | 0.9796 | likely_pathogenic | 0.9825 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/F | 0.9942 | likely_pathogenic | 0.9951 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/H | 0.9887 | likely_pathogenic | 0.9906 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/I | 0.9928 | likely_pathogenic | 0.9939 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/K | 0.9892 | likely_pathogenic | 0.9907 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/L | 0.9876 | likely_pathogenic | 0.9895 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/M | 0.9918 | likely_pathogenic | 0.9932 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/N | 0.9666 | likely_pathogenic | 0.9702 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/Q | 0.9797 | likely_pathogenic | 0.982 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/R | 0.9743 | likely_pathogenic | 0.9769 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.562962103 | None | None | I |
| G/S | 0.7507 | likely_pathogenic | 0.763 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.555453685 | None | None | I |
| G/T | 0.9494 | likely_pathogenic | 0.957 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/V | 0.9837 | likely_pathogenic | 0.9777 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.542477991 | None | None | I |
| G/W | 0.9867 | likely_pathogenic | 0.9885 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/Y | 0.9888 | likely_pathogenic | 0.9905 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.85 | 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.