Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5048 | 15367;15368;15369 | chr2:178734782;178734781;178734780 | chr2:179599509;179599508;179599507 |
| N2AB | 4731 | 14416;14417;14418 | chr2:178734782;178734781;178734780 | chr2:179599509;179599508;179599507 |
| N2A | 3804 | 11635;11636;11637 | chr2:178734782;178734781;178734780 | chr2:179599509;179599508;179599507 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | None | None | 0.999 | D | 0.868 | 0.913 | 0.771059023595 | gnomAD-4.0.0 | 3.18261E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.54662E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs371699709  |
-0.178 | 0.996 | D | 0.654 | 0.75 | 0.778112613574 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/E | rs371699709 |
-0.178 | 0.996 | D | 0.654 | 0.75 | 0.778112613574 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/E | rs371699709 |
-0.178 | 0.996 | D | 0.654 | 0.75 | 0.778112613574 | gnomAD-4.0.0 | 9.29558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.27145E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8595 | likely_pathogenic | 0.8341 | pathogenic | 0.064 | Stabilizing | 0.999 | D | 0.868 | deleterious | D | 0.780271793 | None | None | N |
| D/C | 0.9697 | likely_pathogenic | 0.9627 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| D/E | 0.7207 | likely_pathogenic | 0.7127 | pathogenic | -0.503 | Destabilizing | 0.996 | D | 0.654 | neutral | D | 0.6316772 | None | None | N |
| D/F | 0.9543 | likely_pathogenic | 0.9378 | pathogenic | 0.811 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| D/G | 0.8591 | likely_pathogenic | 0.8374 | pathogenic | -0.373 | Destabilizing | 0.998 | D | 0.793 | deleterious | D | 0.813027447 | None | None | N |
| D/H | 0.7792 | likely_pathogenic | 0.6989 | pathogenic | 0.532 | Stabilizing | 0.803 | D | 0.579 | neutral | D | 0.667565998 | None | None | N |
| D/I | 0.9535 | likely_pathogenic | 0.9415 | pathogenic | 1.235 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| D/K | 0.9713 | likely_pathogenic | 0.9666 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/L | 0.9507 | likely_pathogenic | 0.9333 | pathogenic | 1.235 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| D/M | 0.9623 | likely_pathogenic | 0.9498 | pathogenic | 1.552 | Stabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| D/N | 0.3997 | ambiguous | 0.4017 | ambiguous | -0.687 | Destabilizing | 0.996 | D | 0.76 | deleterious | D | 0.679590678 | None | None | N |
| D/P | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | 0.873 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/Q | 0.9211 | likely_pathogenic | 0.9094 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/R | 0.983 | likely_pathogenic | 0.9792 | pathogenic | 0.22 | Stabilizing | 0.999 | D | 0.89 | deleterious | None | None | None | None | N |
| D/S | 0.7139 | likely_pathogenic | 0.6919 | pathogenic | -0.945 | Destabilizing | 0.998 | D | 0.745 | deleterious | None | None | None | None | N |
| D/T | 0.9231 | likely_pathogenic | 0.9147 | pathogenic | -0.549 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| D/V | 0.8899 | likely_pathogenic | 0.8691 | pathogenic | 0.873 | Stabilizing | 1.0 | D | 0.883 | deleterious | D | 0.812990508 | None | None | N |
| D/W | 0.9922 | likely_pathogenic | 0.9893 | pathogenic | 0.971 | Stabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| D/Y | 0.7231 | likely_pathogenic | 0.673 | pathogenic | 1.099 | Stabilizing | 0.999 | D | 0.871 | deleterious | D | 0.758843872 | 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.