Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32844 | 98755;98756;98757 | chr2:178539535;178539534;178539533 | chr2:179404262;179404261;179404260 |
| N2AB | 31203 | 93832;93833;93834 | chr2:178539535;178539534;178539533 | chr2:179404262;179404261;179404260 |
| N2A | 30276 | 91051;91052;91053 | chr2:178539535;178539534;178539533 | chr2:179404262;179404261;179404260 |
| N2B | 23779 | 71560;71561;71562 | chr2:178539535;178539534;178539533 | chr2:179404262;179404261;179404260 |
| Novex-1 | 23904 | 71935;71936;71937 | chr2:178539535;178539534;178539533 | chr2:179404262;179404261;179404260 |
| Novex-2 | 23971 | 72136;72137;72138 | chr2:178539535;178539534;178539533 | chr2:179404262;179404261;179404260 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 0.217 | N | 0.331 | 0.215 | 0.495773158881 | gnomAD-4.0.0 | 3.18231E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85824E-06 | 1.43271E-05 | 0 |
| Y/N | None | None | 0.999 | N | 0.635 | 0.477 | 0.624848976157 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.7025 | likely_pathogenic | 0.5932 | pathogenic | -1.534 | Destabilizing | 0.992 | D | 0.509 | neutral | None | None | None | None | N |
| Y/C | 0.2887 | likely_benign | 0.1874 | benign | -0.47 | Destabilizing | 0.217 | N | 0.331 | neutral | N | 0.473997306 | None | None | N |
| Y/D | 0.631 | likely_pathogenic | 0.4767 | ambiguous | 0.219 | Stabilizing | 0.999 | D | 0.673 | neutral | N | 0.456699624 | None | None | N |
| Y/E | 0.8125 | likely_pathogenic | 0.7069 | pathogenic | 0.272 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| Y/F | 0.1526 | likely_benign | 0.1248 | benign | -0.549 | Destabilizing | 0.998 | D | 0.549 | neutral | N | 0.431553251 | None | None | N |
| Y/G | 0.6296 | likely_pathogenic | 0.5169 | ambiguous | -1.802 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| Y/H | 0.3933 | ambiguous | 0.2628 | benign | -0.241 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.423664486 | None | None | N |
| Y/I | 0.5884 | likely_pathogenic | 0.4929 | ambiguous | -0.765 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| Y/K | 0.7651 | likely_pathogenic | 0.6572 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| Y/L | 0.5663 | likely_pathogenic | 0.483 | ambiguous | -0.765 | Destabilizing | 0.992 | D | 0.529 | neutral | None | None | None | None | N |
| Y/M | 0.6843 | likely_pathogenic | 0.6032 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| Y/N | 0.3024 | likely_benign | 0.2068 | benign | -0.876 | Destabilizing | 0.999 | D | 0.635 | neutral | N | 0.424701849 | None | None | N |
| Y/P | 0.9744 | likely_pathogenic | 0.9604 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| Y/Q | 0.6956 | likely_pathogenic | 0.5613 | ambiguous | -0.776 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | N |
| Y/R | 0.6577 | likely_pathogenic | 0.533 | ambiguous | -0.21 | Destabilizing | 1.0 | D | 0.637 | neutral | None | None | None | None | N |
| Y/S | 0.3942 | ambiguous | 0.2732 | benign | -1.392 | Destabilizing | 0.998 | D | 0.552 | neutral | N | 0.408137673 | None | None | N |
| Y/T | 0.5868 | likely_pathogenic | 0.4546 | ambiguous | -1.247 | Destabilizing | 0.999 | D | 0.57 | neutral | None | None | None | None | N |
| Y/V | 0.4335 | ambiguous | 0.3514 | ambiguous | -1.01 | Destabilizing | 0.992 | D | 0.556 | neutral | None | None | None | None | N |
| Y/W | 0.6811 | likely_pathogenic | 0.599 | pathogenic | -0.316 | Destabilizing | 1.0 | D | 0.579 | neutral | 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.