Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6091 | 18496;18497;18498 | chr2:178730129;178730128;178730127 | chr2:179594856;179594855;179594854 |
| N2AB | 5774 | 17545;17546;17547 | chr2:178730129;178730128;178730127 | chr2:179594856;179594855;179594854 |
| N2A | 4847 | 14764;14765;14766 | chr2:178730129;178730128;178730127 | chr2:179594856;179594855;179594854 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs890606784  |
None | 1.0 | D | 0.801 | 0.747 | 0.574298552393 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs890606784 |
None | 1.0 | D | 0.801 | 0.747 | 0.574298552393 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs890606784 |
None | 1.0 | D | 0.801 | 0.747 | 0.574298552393 | gnomAD-4.0.0 | 2.56446E-06 | None | None | None | None | I | None | 3.38467E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7974 | likely_pathogenic | 0.792 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.74 | deleterious | D | 0.596889533 | None | None | I |
| G/C | 0.9581 | likely_pathogenic | 0.9484 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.603207981 | None | None | I |
| G/D | 0.9436 | likely_pathogenic | 0.9403 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.601593547 | None | None | I |
| G/E | 0.9695 | likely_pathogenic | 0.9674 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/F | 0.9909 | likely_pathogenic | 0.9898 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/H | 0.9886 | likely_pathogenic | 0.9893 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/I | 0.9888 | likely_pathogenic | 0.9855 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/K | 0.9877 | likely_pathogenic | 0.9866 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/L | 0.9846 | likely_pathogenic | 0.9829 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/M | 0.9896 | likely_pathogenic | 0.9883 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.9587 | likely_pathogenic | 0.9613 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/Q | 0.9729 | likely_pathogenic | 0.9746 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/R | 0.9699 | likely_pathogenic | 0.9687 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.618450486 | None | None | I |
| G/S | 0.7302 | likely_pathogenic | 0.7633 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.582586406 | None | None | I |
| G/T | 0.945 | likely_pathogenic | 0.9443 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/V | 0.9759 | likely_pathogenic | 0.9699 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.635075259 | None | None | I |
| G/W | 0.9844 | likely_pathogenic | 0.9836 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.9863 | likely_pathogenic | 0.9845 | pathogenic | -0.977 | Destabilizing | 1.0 | D | 0.831 | 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.