Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16634 | 50125;50126;50127 | chr2:178612821;178612820;178612819 | chr2:179477548;179477547;179477546 |
| N2AB | 14993 | 45202;45203;45204 | chr2:178612821;178612820;178612819 | chr2:179477548;179477547;179477546 |
| N2A | 14066 | 42421;42422;42423 | chr2:178612821;178612820;178612819 | chr2:179477548;179477547;179477546 |
| N2B | 7569 | 22930;22931;22932 | chr2:178612821;178612820;178612819 | chr2:179477548;179477547;179477546 |
| Novex-1 | 7694 | 23305;23306;23307 | chr2:178612821;178612820;178612819 | chr2:179477548;179477547;179477546 |
| Novex-2 | 7761 | 23506;23507;23508 | chr2:178612821;178612820;178612819 | chr2:179477548;179477547;179477546 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs2056591982  |
None | 0.999 | N | 0.752 | 0.289 | 0.243972157842 | gnomAD-4.0.0 | 1.59424E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86248E-06 | 0 | 0 |
| S/N | None | None | 0.999 | D | 0.742 | 0.347 | 0.414930877219 | gnomAD-4.0.0 | 1.59424E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43439E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.5426 | ambiguous | 0.6036 | pathogenic | -0.779 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| S/C | 0.8487 | likely_pathogenic | 0.9034 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.747479214 | None | None | N |
| S/D | 0.9841 | likely_pathogenic | 0.9883 | pathogenic | -1.807 | Destabilizing | 0.999 | D | 0.778 | deleterious | None | None | None | None | N |
| S/E | 0.9937 | likely_pathogenic | 0.9962 | pathogenic | -1.701 | Destabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | N |
| S/F | 0.9966 | likely_pathogenic | 0.9981 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| S/G | 0.2114 | likely_benign | 0.1989 | benign | -1.087 | Destabilizing | 0.999 | D | 0.752 | deleterious | N | 0.455766165 | None | None | N |
| S/H | 0.9926 | likely_pathogenic | 0.9951 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| S/I | 0.9941 | likely_pathogenic | 0.9974 | pathogenic | -0.03 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.710620428 | None | None | N |
| S/K | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -0.964 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| S/L | 0.978 | likely_pathogenic | 0.9891 | pathogenic | -0.03 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| S/M | 0.9792 | likely_pathogenic | 0.9888 | pathogenic | -0.078 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| S/N | 0.9474 | likely_pathogenic | 0.9693 | pathogenic | -1.355 | Destabilizing | 0.999 | D | 0.742 | deleterious | D | 0.746183502 | None | None | N |
| S/P | 0.9951 | likely_pathogenic | 0.9975 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| S/Q | 0.9945 | likely_pathogenic | 0.9964 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| S/R | 0.998 | likely_pathogenic | 0.9989 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.686267943 | None | None | N |
| S/T | 0.7605 | likely_pathogenic | 0.8397 | pathogenic | -1.069 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | D | 0.745757329 | None | None | N |
| S/V | 0.989 | likely_pathogenic | 0.9947 | pathogenic | -0.247 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| S/W | 0.995 | likely_pathogenic | 0.9974 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| S/Y | 0.9919 | likely_pathogenic | 0.9956 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | 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.