Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23756 | 71491;71492;71493 | chr2:178574866;178574865;178574864 | chr2:179439593;179439592;179439591 |
| N2AB | 22115 | 66568;66569;66570 | chr2:178574866;178574865;178574864 | chr2:179439593;179439592;179439591 |
| N2A | 21188 | 63787;63788;63789 | chr2:178574866;178574865;178574864 | chr2:179439593;179439592;179439591 |
| N2B | 14691 | 44296;44297;44298 | chr2:178574866;178574865;178574864 | chr2:179439593;179439592;179439591 |
| Novex-1 | 14816 | 44671;44672;44673 | chr2:178574866;178574865;178574864 | chr2:179439593;179439592;179439591 |
| Novex-2 | 14883 | 44872;44873;44874 | chr2:178574866;178574865;178574864 | chr2:179439593;179439592;179439591 |
| 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 | None | None | 1.0 | N | 0.697 | 0.523 | 0.344710718752 | gnomAD-4.0.0 | 6.84527E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99638E-07 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.697 | 0.423 | 0.273070737957 | gnomAD-4.0.0 | 1.36908E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.53254E-05 | None | 0 | 0 | 0 | 0 | 1.65793E-05 |
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 | 0.8778 | likely_pathogenic | 0.8331 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.491175469 | None | None | I |
| G/C | 0.9419 | likely_pathogenic | 0.9233 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.525550781 | None | None | I |
| G/D | 0.9673 | likely_pathogenic | 0.9527 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.503140885 | None | None | I |
| G/E | 0.9831 | likely_pathogenic | 0.9739 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/F | 0.9899 | likely_pathogenic | 0.9853 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9885 | likely_pathogenic | 0.9787 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/I | 0.9856 | likely_pathogenic | 0.9815 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.989 | likely_pathogenic | 0.9805 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/L | 0.981 | likely_pathogenic | 0.9725 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/M | 0.9858 | likely_pathogenic | 0.9779 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9623 | likely_pathogenic | 0.9286 | pathogenic | -0.362 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/Q | 0.9832 | likely_pathogenic | 0.9668 | pathogenic | -0.624 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/R | 0.9738 | likely_pathogenic | 0.9555 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.487923466 | None | None | I |
| G/S | 0.8009 | likely_pathogenic | 0.7097 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.488426764 | None | None | I |
| G/T | 0.9611 | likely_pathogenic | 0.9416 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/V | 0.975 | likely_pathogenic | 0.9682 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.542641078 | None | None | I |
| G/W | 0.9862 | likely_pathogenic | 0.9823 | pathogenic | -1.106 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Y | 0.9862 | likely_pathogenic | 0.9791 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.769 | 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.