Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32814 | 98665;98666;98667 | chr2:178539625;178539624;178539623 | chr2:179404352;179404351;179404350 |
| N2AB | 31173 | 93742;93743;93744 | chr2:178539625;178539624;178539623 | chr2:179404352;179404351;179404350 |
| N2A | 30246 | 90961;90962;90963 | chr2:178539625;178539624;178539623 | chr2:179404352;179404351;179404350 |
| N2B | 23749 | 71470;71471;71472 | chr2:178539625;178539624;178539623 | chr2:179404352;179404351;179404350 |
| Novex-1 | 23874 | 71845;71846;71847 | chr2:178539625;178539624;178539623 | chr2:179404352;179404351;179404350 |
| Novex-2 | 23941 | 72046;72047;72048 | chr2:178539625;178539624;178539623 | chr2:179404352;179404351;179404350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/K | rs1487649539  |
-1.126 | 0.997 | N | 0.493 | 0.338 | 0.263612267334 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/K | rs1487649539 |
-1.126 | 0.997 | N | 0.493 | 0.338 | 0.263612267334 | gnomAD-4.0.0 | 6.84205E-07 | None | None | None | None | N | None | 0 | 2.23624E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs1487649539 |
-0.976 | 1.0 | N | 0.763 | 0.401 | 0.527356302626 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| R/T | rs1487649539 |
-0.976 | 1.0 | N | 0.763 | 0.401 | 0.527356302626 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9305E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs1487649539 |
-0.976 | 1.0 | N | 0.763 | 0.401 | 0.527356302626 | gnomAD-4.0.0 | 1.85912E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.45692E-05 | None | 0 | 0 | 0 | 1.09801E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8207 | likely_pathogenic | 0.7635 | pathogenic | -1.258 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| R/C | 0.4647 | ambiguous | 0.3961 | ambiguous | -1.373 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| R/D | 0.9663 | likely_pathogenic | 0.9556 | pathogenic | -0.598 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| R/E | 0.8209 | likely_pathogenic | 0.787 | pathogenic | -0.5 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | N |
| R/F | 0.8901 | likely_pathogenic | 0.8634 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| R/G | 0.7785 | likely_pathogenic | 0.7075 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.505475006 | None | None | N |
| R/H | 0.2753 | likely_benign | 0.241 | benign | -1.567 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| R/I | 0.661 | likely_pathogenic | 0.6063 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| R/K | 0.1946 | likely_benign | 0.1713 | benign | -1.436 | Destabilizing | 0.997 | D | 0.493 | neutral | N | 0.408889822 | None | None | N |
| R/L | 0.5829 | likely_pathogenic | 0.5296 | ambiguous | -0.528 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/M | 0.6471 | likely_pathogenic | 0.5902 | pathogenic | -0.66 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.478096404 | None | None | N |
| R/N | 0.9066 | likely_pathogenic | 0.8821 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| R/P | 0.9834 | likely_pathogenic | 0.977 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| R/Q | 0.2707 | likely_benign | 0.2395 | benign | -1.129 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/S | 0.8766 | likely_pathogenic | 0.8416 | pathogenic | -1.672 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.431302534 | None | None | N |
| R/T | 0.5965 | likely_pathogenic | 0.5484 | ambiguous | -1.41 | Destabilizing | 1.0 | D | 0.763 | deleterious | N | 0.359863724 | None | None | N |
| R/V | 0.718 | likely_pathogenic | 0.6702 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/W | 0.5295 | ambiguous | 0.4911 | ambiguous | -0.885 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.47773834 | None | None | N |
| R/Y | 0.8014 | likely_pathogenic | 0.7657 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.791 | 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.