Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22825 | 68698;68699;68700 | chr2:178578042;178578041;178578040 | chr2:179442769;179442768;179442767 |
| N2AB | 21184 | 63775;63776;63777 | chr2:178578042;178578041;178578040 | chr2:179442769;179442768;179442767 |
| N2A | 20257 | 60994;60995;60996 | chr2:178578042;178578041;178578040 | chr2:179442769;179442768;179442767 |
| N2B | 13760 | 41503;41504;41505 | chr2:178578042;178578041;178578040 | chr2:179442769;179442768;179442767 |
| Novex-1 | 13885 | 41878;41879;41880 | chr2:178578042;178578041;178578040 | chr2:179442769;179442768;179442767 |
| Novex-2 | 13952 | 42079;42080;42081 | chr2:178578042;178578041;178578040 | chr2:179442769;179442768;179442767 |
| 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/D | rs376030605  |
-0.982 | 1.0 | D | 0.894 | 0.617 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs376030605 |
-0.982 | 1.0 | D | 0.894 | 0.617 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs376030605 |
-0.982 | 1.0 | D | 0.894 | 0.617 | None | gnomAD-4.0.0 | 2.5641E-06 | None | None | None | None | I | None | 1.69279E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39474E-06 | 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 | 0.876 | likely_pathogenic | 0.8901 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.564354455 | None | None | I |
| G/C | 0.9695 | likely_pathogenic | 0.9768 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.576978208 | None | None | I |
| G/D | 0.9746 | likely_pathogenic | 0.9825 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.548705735 | None | None | I |
| G/E | 0.9864 | likely_pathogenic | 0.9906 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/F | 0.9963 | likely_pathogenic | 0.9969 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/H | 0.9921 | likely_pathogenic | 0.9946 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/I | 0.9949 | likely_pathogenic | 0.9959 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/K | 0.9889 | likely_pathogenic | 0.992 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/L | 0.9927 | likely_pathogenic | 0.9934 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/M | 0.9945 | likely_pathogenic | 0.9954 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/N | 0.9791 | likely_pathogenic | 0.9836 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/Q | 0.9844 | likely_pathogenic | 0.9884 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/R | 0.9716 | likely_pathogenic | 0.9798 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.553251639 | None | None | I |
| G/S | 0.803 | likely_pathogenic | 0.839 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.563847476 | None | None | I |
| G/T | 0.9636 | likely_pathogenic | 0.9704 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/V | 0.9855 | likely_pathogenic | 0.9886 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.546757179 | None | None | I |
| G/W | 0.9938 | likely_pathogenic | 0.9957 | pathogenic | -1.287 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/Y | 0.9933 | likely_pathogenic | 0.9952 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.863 | 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.