Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28732 | 86419;86420;86421 | chr2:178559938;178559937;178559936 | chr2:179424665;179424664;179424663 |
| N2AB | 27091 | 81496;81497;81498 | chr2:178559938;178559937;178559936 | chr2:179424665;179424664;179424663 |
| N2A | 26164 | 78715;78716;78717 | chr2:178559938;178559937;178559936 | chr2:179424665;179424664;179424663 |
| N2B | 19667 | 59224;59225;59226 | chr2:178559938;178559937;178559936 | chr2:179424665;179424664;179424663 |
| Novex-1 | 19792 | 59599;59600;59601 | chr2:178559938;178559937;178559936 | chr2:179424665;179424664;179424663 |
| Novex-2 | 19859 | 59800;59801;59802 | chr2:178559938;178559937;178559936 | chr2:179424665;179424664;179424663 |
| 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 | 0.923 | 0.626 | 0.853914133576 | gnomAD-4.0.0 | 1.59134E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88338E-05 | 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 | 0.6751 | likely_pathogenic | 0.6832 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.540325171 | None | None | I |
| G/C | 0.9005 | likely_pathogenic | 0.8717 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.564469813 | None | None | I |
| G/D | 0.9292 | likely_pathogenic | 0.9165 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.528461886 | None | None | I |
| G/E | 0.9547 | likely_pathogenic | 0.9403 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/F | 0.9803 | likely_pathogenic | 0.9793 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/H | 0.9817 | likely_pathogenic | 0.9721 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/I | 0.9779 | likely_pathogenic | 0.9755 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| G/K | 0.9759 | likely_pathogenic | 0.9651 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/L | 0.9673 | likely_pathogenic | 0.9631 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/M | 0.9762 | likely_pathogenic | 0.9742 | pathogenic | -0.516 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/N | 0.9596 | likely_pathogenic | 0.948 | pathogenic | -0.745 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/P | 0.9961 | likely_pathogenic | 0.9966 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/Q | 0.96 | likely_pathogenic | 0.944 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | I |
| G/R | 0.9465 | likely_pathogenic | 0.9272 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.551934966 | None | None | I |
| G/S | 0.6736 | likely_pathogenic | 0.6117 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.562695387 | None | None | I |
| G/T | 0.906 | likely_pathogenic | 0.8875 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | I |
| G/V | 0.9518 | likely_pathogenic | 0.9488 | pathogenic | -0.52 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.531615438 | None | None | I |
| G/W | 0.9692 | likely_pathogenic | 0.9687 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Y | 0.9717 | likely_pathogenic | 0.9676 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.899 | 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.