Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18423 | 55492;55493;55494 | chr2:178602004;178602003;178602002 | chr2:179466731;179466730;179466729 |
| N2AB | 16782 | 50569;50570;50571 | chr2:178602004;178602003;178602002 | chr2:179466731;179466730;179466729 |
| N2A | 15855 | 47788;47789;47790 | chr2:178602004;178602003;178602002 | chr2:179466731;179466730;179466729 |
| N2B | 9358 | 28297;28298;28299 | chr2:178602004;178602003;178602002 | chr2:179466731;179466730;179466729 |
| Novex-1 | 9483 | 28672;28673;28674 | chr2:178602004;178602003;178602002 | chr2:179466731;179466730;179466729 |
| Novex-2 | 9550 | 28873;28874;28875 | chr2:178602004;178602003;178602002 | chr2:179466731;179466730;179466729 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs367799017  |
0.061 | 1.0 | N | 0.658 | 0.267 | 0.171388866994 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/N | rs367799017 |
0.061 | 1.0 | N | 0.658 | 0.267 | 0.171388866994 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| K/N | rs367799017 |
0.061 | 1.0 | N | 0.658 | 0.267 | 0.171388866994 | gnomAD-4.0.0 | 8.68232E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18727E-05 | 0 | 0 |
| K/R | rs752722625 |
-0.203 | 0.999 | N | 0.565 | 0.164 | 0.218845423259 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| K/R | rs752722625 |
-0.203 | 0.999 | N | 0.565 | 0.164 | 0.218845423259 | gnomAD-4.0.0 | 4.78037E-06 | None | None | None | None | N | None | 0 | 6.86467E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.4003 | ambiguous | 0.4088 | ambiguous | -0.684 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| K/C | 0.7676 | likely_pathogenic | 0.7378 | pathogenic | -0.694 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/D | 0.6706 | likely_pathogenic | 0.6942 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| K/E | 0.2456 | likely_benign | 0.2619 | benign | -0.49 | Destabilizing | 0.999 | D | 0.62 | neutral | N | 0.4852778 | None | None | N |
| K/F | 0.7899 | likely_pathogenic | 0.7762 | pathogenic | -0.415 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/G | 0.5383 | ambiguous | 0.5543 | ambiguous | -1.078 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| K/H | 0.3986 | ambiguous | 0.3718 | ambiguous | -1.57 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| K/I | 0.3349 | likely_benign | 0.3258 | benign | 0.35 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/L | 0.3895 | ambiguous | 0.3799 | ambiguous | 0.35 | Stabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| K/M | 0.277 | likely_benign | 0.2817 | benign | 0.392 | Stabilizing | 1.0 | D | 0.627 | neutral | N | 0.458009519 | None | None | N |
| K/N | 0.5004 | ambiguous | 0.5269 | ambiguous | -0.732 | Destabilizing | 1.0 | D | 0.658 | neutral | N | 0.505250428 | None | None | N |
| K/P | 0.7451 | likely_pathogenic | 0.7693 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| K/Q | 0.1842 | likely_benign | 0.1806 | benign | -0.795 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.456488582 | None | None | N |
| K/R | 0.0931 | likely_benign | 0.0878 | benign | -0.827 | Destabilizing | 0.999 | D | 0.565 | neutral | N | 0.475794312 | None | None | N |
| K/S | 0.5262 | ambiguous | 0.5326 | ambiguous | -1.341 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| K/T | 0.2436 | likely_benign | 0.2568 | benign | -0.999 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.475967671 | None | None | N |
| K/V | 0.3284 | likely_benign | 0.3153 | benign | 0.035 | Stabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| K/W | 0.7911 | likely_pathogenic | 0.7671 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/Y | 0.7018 | likely_pathogenic | 0.6788 | pathogenic | -0.002 | Destabilizing | 1.0 | D | 0.672 | 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.