Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24460 | 73603;73604;73605 | chr2:178572754;178572753;178572752 | chr2:179437481;179437480;179437479 |
| N2AB | 22819 | 68680;68681;68682 | chr2:178572754;178572753;178572752 | chr2:179437481;179437480;179437479 |
| N2A | 21892 | 65899;65900;65901 | chr2:178572754;178572753;178572752 | chr2:179437481;179437480;179437479 |
| N2B | 15395 | 46408;46409;46410 | chr2:178572754;178572753;178572752 | chr2:179437481;179437480;179437479 |
| Novex-1 | 15520 | 46783;46784;46785 | chr2:178572754;178572753;178572752 | chr2:179437481;179437480;179437479 |
| Novex-2 | 15587 | 46984;46985;46986 | chr2:178572754;178572753;178572752 | chr2:179437481;179437480;179437479 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.892 | D | 0.585 | 0.615 | None | gnomAD-4.0.0 | 6.36738E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14375E-05 | 0 | 0 |
| V/L | None | None | 0.369 | D | 0.559 | 0.534 | 0.526995340713 | gnomAD-4.0.0 | 1.36862E-06 | None | None | None | None | I | None | 2.98972E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9958E-07 | 0 | 0 |
| V/M | rs546803158  |
-0.461 | 0.967 | D | 0.706 | 0.674 | 0.652220884204 | gnomAD-2.1.1 | 6.85E-05 | None | None | None | None | I | None | 0 | 8.7E-05 | None | 0 | 0 | None | 3.59524E-04 | None | 0 | 1.78E-05 | 1.65948E-04 |
| V/M | rs546803158 |
-0.461 | 0.967 | D | 0.706 | 0.674 | 0.652220884204 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 8.29187E-04 | 4.77555E-04 |
| V/M | rs546803158 |
-0.461 | 0.967 | D | 0.706 | 0.674 | 0.652220884204 | 1000 genomes | 5.99042E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 3.1E-03 | None |
| V/M | rs546803158 |
-0.461 | 0.967 | D | 0.706 | 0.674 | 0.652220884204 | gnomAD-4.0.0 | 2.97488E-05 | None | None | None | None | I | None | 0 | 3.33378E-05 | None | 0 | 0 | None | 0 | 0 | 1.35638E-05 | 2.85507E-04 | 6.40287E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4123 | ambiguous | 0.4445 | ambiguous | -1.556 | Destabilizing | 0.892 | D | 0.585 | neutral | D | 0.539260903 | None | None | I |
| V/C | 0.8483 | likely_pathogenic | 0.8473 | pathogenic | -1.146 | Destabilizing | 0.999 | D | 0.757 | deleterious | None | None | None | None | I |
| V/D | 0.9795 | likely_pathogenic | 0.9771 | pathogenic | -1.311 | Destabilizing | 0.996 | D | 0.841 | deleterious | None | None | None | None | I |
| V/E | 0.9428 | likely_pathogenic | 0.9388 | pathogenic | -1.235 | Destabilizing | 0.994 | D | 0.827 | deleterious | D | 0.611080143 | None | None | I |
| V/F | 0.6183 | likely_pathogenic | 0.5844 | pathogenic | -0.995 | Destabilizing | 0.975 | D | 0.751 | deleterious | None | None | None | None | I |
| V/G | 0.626 | likely_pathogenic | 0.632 | pathogenic | -1.962 | Destabilizing | 0.983 | D | 0.833 | deleterious | D | 0.611080143 | None | None | I |
| V/H | 0.9835 | likely_pathogenic | 0.9821 | pathogenic | -1.531 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | I |
| V/I | 0.0936 | likely_benign | 0.0898 | benign | -0.51 | Destabilizing | 0.033 | N | 0.247 | neutral | None | None | None | None | I |
| V/K | 0.9585 | likely_pathogenic | 0.9546 | pathogenic | -1.369 | Destabilizing | 0.987 | D | 0.829 | deleterious | None | None | None | None | I |
| V/L | 0.5934 | likely_pathogenic | 0.5681 | pathogenic | -0.51 | Destabilizing | 0.369 | N | 0.559 | neutral | D | 0.550647689 | None | None | I |
| V/M | 0.437 | ambiguous | 0.4239 | ambiguous | -0.476 | Destabilizing | 0.967 | D | 0.706 | prob.neutral | D | 0.573298025 | None | None | I |
| V/N | 0.9266 | likely_pathogenic | 0.926 | pathogenic | -1.282 | Destabilizing | 0.996 | D | 0.855 | deleterious | None | None | None | None | I |
| V/P | 0.9159 | likely_pathogenic | 0.895 | pathogenic | -0.824 | Destabilizing | 0.996 | D | 0.835 | deleterious | None | None | None | None | I |
| V/Q | 0.9384 | likely_pathogenic | 0.934 | pathogenic | -1.311 | Destabilizing | 0.996 | D | 0.845 | deleterious | None | None | None | None | I |
| V/R | 0.9501 | likely_pathogenic | 0.9415 | pathogenic | -1.002 | Destabilizing | 0.996 | D | 0.854 | deleterious | None | None | None | None | I |
| V/S | 0.7329 | likely_pathogenic | 0.7519 | pathogenic | -1.89 | Destabilizing | 0.987 | D | 0.823 | deleterious | None | None | None | None | I |
| V/T | 0.6197 | likely_pathogenic | 0.646 | pathogenic | -1.682 | Destabilizing | 0.916 | D | 0.698 | prob.neutral | None | None | None | None | I |
| V/W | 0.9856 | likely_pathogenic | 0.9821 | pathogenic | -1.278 | Destabilizing | 0.999 | D | 0.842 | deleterious | None | None | None | None | I |
| V/Y | 0.9392 | likely_pathogenic | 0.924 | pathogenic | -0.947 | Destabilizing | 0.987 | D | 0.757 | 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.