Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27678 | 83257;83258;83259 | chr2:178563100;178563099;178563098 | chr2:179427827;179427826;179427825 |
| N2AB | 26037 | 78334;78335;78336 | chr2:178563100;178563099;178563098 | chr2:179427827;179427826;179427825 |
| N2A | 25110 | 75553;75554;75555 | chr2:178563100;178563099;178563098 | chr2:179427827;179427826;179427825 |
| N2B | 18613 | 56062;56063;56064 | chr2:178563100;178563099;178563098 | chr2:179427827;179427826;179427825 |
| Novex-1 | 18738 | 56437;56438;56439 | chr2:178563100;178563099;178563098 | chr2:179427827;179427826;179427825 |
| Novex-2 | 18805 | 56638;56639;56640 | chr2:178563100;178563099;178563098 | chr2:179427827;179427826;179427825 |
| 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/N | rs781128731  |
-0.294 | 1.0 | D | 0.672 | 0.46 | 0.446111551642 | gnomAD-2.1.1 | 3.62E-05 | None | None | None | None | N | None | 0 | 1.73812E-04 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 1.78E-05 | 0 |
| D/N | rs781128731 |
-0.294 | 1.0 | D | 0.672 | 0.46 | 0.446111551642 | gnomAD-4.0.0 | 1.36846E-05 | None | None | None | None | N | None | 0 | 1.11802E-04 | None | 0 | 0 | None | 0 | 0 | 1.25933E-05 | 1.15937E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7235 | likely_pathogenic | 0.5918 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.492677315 | None | None | N |
| D/C | 0.9801 | likely_pathogenic | 0.9596 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/E | 0.8656 | likely_pathogenic | 0.7682 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.482 | neutral | N | 0.504487692 | None | None | N |
| D/F | 0.9779 | likely_pathogenic | 0.9679 | pathogenic | 0.072 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/G | 0.6977 | likely_pathogenic | 0.6192 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.529735198 | None | None | N |
| D/H | 0.9216 | likely_pathogenic | 0.8503 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.531002646 | None | None | N |
| D/I | 0.9811 | likely_pathogenic | 0.9599 | pathogenic | 0.515 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| D/K | 0.9794 | likely_pathogenic | 0.9592 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| D/L | 0.9106 | likely_pathogenic | 0.8757 | pathogenic | 0.515 | Stabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| D/M | 0.983 | likely_pathogenic | 0.9684 | pathogenic | 0.778 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/N | 0.7336 | likely_pathogenic | 0.5826 | pathogenic | -0.751 | Destabilizing | 1.0 | D | 0.672 | neutral | D | 0.529735199 | None | None | N |
| D/P | 0.9118 | likely_pathogenic | 0.8872 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| D/Q | 0.9577 | likely_pathogenic | 0.9144 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| D/R | 0.9694 | likely_pathogenic | 0.9452 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| D/S | 0.6602 | likely_pathogenic | 0.5089 | ambiguous | -0.957 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| D/T | 0.9165 | likely_pathogenic | 0.8382 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | N |
| D/V | 0.9238 | likely_pathogenic | 0.8571 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.782 | deleterious | D | 0.530749157 | None | None | N |
| D/W | 0.9961 | likely_pathogenic | 0.9933 | pathogenic | 0.233 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/Y | 0.8936 | likely_pathogenic | 0.816 | pathogenic | 0.296 | Stabilizing | 1.0 | D | 0.771 | deleterious | D | 0.531256136 | 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.