Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7421 | 22486;22487;22488 | chr2:178722526;178722525;178722524 | chr2:179587253;179587252;179587251 |
| N2AB | 7104 | 21535;21536;21537 | chr2:178722526;178722525;178722524 | chr2:179587253;179587252;179587251 |
| N2A | 6177 | 18754;18755;18756 | chr2:178722526;178722525;178722524 | chr2:179587253;179587252;179587251 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs1291566645  |
-2.346 | 1.0 | D | 0.873 | 0.803 | 0.890317696461 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| F/S | rs1291566645 |
-2.346 | 1.0 | D | 0.873 | 0.803 | 0.890317696461 | gnomAD-4.0.0 | 1.59516E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.775E-05 | None | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9844 | likely_pathogenic | 0.9853 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| F/C | 0.9741 | likely_pathogenic | 0.9755 | pathogenic | -1.373 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.569049532 | None | None | N |
| F/D | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.493 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/E | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| F/G | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -2.609 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| F/H | 0.9906 | likely_pathogenic | 0.9908 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| F/I | 0.7679 | likely_pathogenic | 0.7403 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.533291618 | None | None | N |
| F/K | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| F/L | 0.9811 | likely_pathogenic | 0.98 | pathogenic | -1.395 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | N | 0.515871949 | None | None | N |
| F/M | 0.9295 | likely_pathogenic | 0.9289 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| F/N | 0.9952 | likely_pathogenic | 0.9955 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/P | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| F/Q | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/R | 0.9953 | likely_pathogenic | 0.995 | pathogenic | -0.296 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/S | 0.9854 | likely_pathogenic | 0.9864 | pathogenic | -1.751 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.568542553 | None | None | N |
| F/T | 0.9871 | likely_pathogenic | 0.988 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| F/V | 0.7897 | likely_pathogenic | 0.7703 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.517744826 | None | None | N |
| F/W | 0.9325 | likely_pathogenic | 0.9353 | pathogenic | -0.671 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| F/Y | 0.7413 | likely_pathogenic | 0.7704 | pathogenic | -0.757 | Destabilizing | 0.999 | D | 0.667 | neutral | D | 0.550691788 | 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.