Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16615 | 50068;50069;50070 | chr2:178612878;178612877;178612876 | chr2:179477605;179477604;179477603 |
| N2AB | 14974 | 45145;45146;45147 | chr2:178612878;178612877;178612876 | chr2:179477605;179477604;179477603 |
| N2A | 14047 | 42364;42365;42366 | chr2:178612878;178612877;178612876 | chr2:179477605;179477604;179477603 |
| N2B | 7550 | 22873;22874;22875 | chr2:178612878;178612877;178612876 | chr2:179477605;179477604;179477603 |
| Novex-1 | 7675 | 23248;23249;23250 | chr2:178612878;178612877;178612876 | chr2:179477605;179477604;179477603 |
| Novex-2 | 7742 | 23449;23450;23451 | chr2:178612878;178612877;178612876 | chr2:179477605;179477604;179477603 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs1212016273  |
-2.152 | 1.0 | D | 0.875 | 0.779 | 0.915577082138 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| L/F | rs1212016273 |
-2.152 | 1.0 | D | 0.875 | 0.779 | 0.915577082138 | gnomAD-4.0.0 | 6.37515E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.58585E-06 | 1.43332E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9413 | likely_pathogenic | 0.9577 | pathogenic | -2.542 | Highly Destabilizing | 0.999 | D | 0.834 | deleterious | None | None | None | None | N |
| L/C | 0.9246 | likely_pathogenic | 0.9422 | pathogenic | -1.94 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| L/D | 0.9986 | likely_pathogenic | 0.9992 | pathogenic | -2.31 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| L/E | 0.9917 | likely_pathogenic | 0.9953 | pathogenic | -2.164 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/F | 0.7014 | likely_pathogenic | 0.7012 | pathogenic | -1.73 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.779108761 | None | None | N |
| L/G | 0.9845 | likely_pathogenic | 0.9905 | pathogenic | -3.033 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/H | 0.9803 | likely_pathogenic | 0.988 | pathogenic | -2.271 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.810304963 | None | None | N |
| L/I | 0.3401 | ambiguous | 0.3565 | ambiguous | -1.163 | Destabilizing | 0.999 | D | 0.844 | deleterious | D | 0.760395073 | None | None | N |
| L/K | 0.981 | likely_pathogenic | 0.9886 | pathogenic | -1.879 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| L/M | 0.3944 | ambiguous | 0.4246 | ambiguous | -1.02 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/N | 0.9902 | likely_pathogenic | 0.994 | pathogenic | -1.978 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| L/P | 0.9888 | likely_pathogenic | 0.9924 | pathogenic | -1.599 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.810304963 | None | None | N |
| L/Q | 0.9655 | likely_pathogenic | 0.9811 | pathogenic | -1.98 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| L/R | 0.9662 | likely_pathogenic | 0.9813 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.777922451 | None | None | N |
| L/S | 0.991 | likely_pathogenic | 0.9946 | pathogenic | -2.741 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| L/T | 0.9571 | likely_pathogenic | 0.9729 | pathogenic | -2.444 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/V | 0.398 | ambiguous | 0.4408 | ambiguous | -1.599 | Destabilizing | 0.999 | D | 0.853 | deleterious | D | 0.651752374 | None | None | N |
| L/W | 0.9593 | likely_pathogenic | 0.9724 | pathogenic | -1.926 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| L/Y | 0.9724 | likely_pathogenic | 0.9774 | pathogenic | -1.701 | Destabilizing | 1.0 | D | 0.829 | 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.