Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26817 | 80674;80675;80676 | chr2:178565683;178565682;178565681 | chr2:179430410;179430409;179430408 |
| N2AB | 25176 | 75751;75752;75753 | chr2:178565683;178565682;178565681 | chr2:179430410;179430409;179430408 |
| N2A | 24249 | 72970;72971;72972 | chr2:178565683;178565682;178565681 | chr2:179430410;179430409;179430408 |
| N2B | 17752 | 53479;53480;53481 | chr2:178565683;178565682;178565681 | chr2:179430410;179430409;179430408 |
| Novex-1 | 17877 | 53854;53855;53856 | chr2:178565683;178565682;178565681 | chr2:179430410;179430409;179430408 |
| Novex-2 | 17944 | 54055;54056;54057 | chr2:178565683;178565682;178565681 | chr2:179430410;179430409;179430408 |
| 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 | rs1559343682  |
None | 0.987 | N | 0.6 | 0.64 | 0.740987729001 | gnomAD-4.0.0 | 1.59157E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85919E-06 | 0 | 0 |
| V/F | rs1367929877 |
None | 1.0 | D | 0.766 | 0.621 | 0.82151840403 | 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 |
| V/F | rs1367929877 |
None | 1.0 | D | 0.766 | 0.621 | 0.82151840403 | gnomAD-4.0.0 | 6.57445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47046E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7105 | likely_pathogenic | 0.6752 | pathogenic | -1.969 | Destabilizing | 0.987 | D | 0.6 | neutral | N | 0.521562579 | None | None | N |
| V/C | 0.9601 | likely_pathogenic | 0.9518 | pathogenic | -1.401 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| V/D | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -2.878 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.548821094 | None | None | N |
| V/E | 0.9925 | likely_pathogenic | 0.9909 | pathogenic | -2.594 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| V/F | 0.8398 | likely_pathogenic | 0.7666 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.537211299 | None | None | N |
| V/G | 0.9416 | likely_pathogenic | 0.9264 | pathogenic | -2.555 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.548821094 | None | None | N |
| V/H | 0.9979 | likely_pathogenic | 0.9971 | pathogenic | -2.491 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| V/I | 0.0848 | likely_benign | 0.0772 | benign | -0.301 | Destabilizing | 0.29 | N | 0.229 | neutral | N | 0.440794383 | None | None | N |
| V/K | 0.9947 | likely_pathogenic | 0.9935 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| V/L | 0.4087 | ambiguous | 0.3635 | ambiguous | -0.301 | Destabilizing | 0.853 | D | 0.359 | neutral | N | 0.485089452 | None | None | N |
| V/M | 0.5629 | ambiguous | 0.4863 | ambiguous | -0.436 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| V/N | 0.9944 | likely_pathogenic | 0.9921 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| V/P | 0.9923 | likely_pathogenic | 0.9923 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| V/Q | 0.9913 | likely_pathogenic | 0.9896 | pathogenic | -1.915 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| V/R | 0.989 | likely_pathogenic | 0.9876 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| V/S | 0.9572 | likely_pathogenic | 0.9467 | pathogenic | -2.746 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| V/T | 0.7548 | likely_pathogenic | 0.7451 | pathogenic | -2.31 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | None | None | None | None | N |
| V/W | 0.9957 | likely_pathogenic | 0.9932 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| V/Y | 0.9886 | likely_pathogenic | 0.9832 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.754 | 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.