Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27354 | 82285;82286;82287 | chr2:178564072;178564071;178564070 | chr2:179428799;179428798;179428797 |
| N2AB | 25713 | 77362;77363;77364 | chr2:178564072;178564071;178564070 | chr2:179428799;179428798;179428797 |
| N2A | 24786 | 74581;74582;74583 | chr2:178564072;178564071;178564070 | chr2:179428799;179428798;179428797 |
| N2B | 18289 | 55090;55091;55092 | chr2:178564072;178564071;178564070 | chr2:179428799;179428798;179428797 |
| Novex-1 | 18414 | 55465;55466;55467 | chr2:178564072;178564071;178564070 | chr2:179428799;179428798;179428797 |
| Novex-2 | 18481 | 55666;55667;55668 | chr2:178564072;178564071;178564070 | chr2:179428799;179428798;179428797 |
| 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 | None | None | 0.999 | N | 0.389 | 0.268 | 0.598468489023 | gnomAD-4.0.0 | 6.84207E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| V/G | rs368023868  |
-0.256 | 1.0 | N | 0.691 | 0.492 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | I | None | 4.13326E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/G | rs368023868 |
-0.256 | 1.0 | N | 0.691 | 0.492 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | I | None | 2.65482E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| V/G | rs368023868 |
-0.256 | 1.0 | N | 0.691 | 0.492 | None | gnomAD-4.0.0 | 1.92112E-05 | None | None | None | None | I | None | 3.73822E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.80307E-05 |
| V/I | rs878854336 |
-0.062 | 0.997 | N | 0.401 | 0.254 | 0.607789150232 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs878854336 |
-0.062 | 0.997 | N | 0.401 | 0.254 | 0.607789150232 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/I | rs878854336 |
-0.062 | 0.997 | N | 0.401 | 0.254 | 0.607789150232 | gnomAD-4.0.0 | 6.8162E-06 | None | None | None | None | I | None | 0 | 1.5001E-04 | None | 0 | 0 | None | 0 | 0 | 1.69527E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.197 | likely_benign | 0.2409 | benign | -0.343 | Destabilizing | 0.999 | D | 0.389 | neutral | N | 0.471122864 | None | None | I |
| V/C | 0.8695 | likely_pathogenic | 0.9025 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | I |
| V/D | 0.6867 | likely_pathogenic | 0.7804 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.514374996 | None | None | I |
| V/E | 0.6315 | likely_pathogenic | 0.7186 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| V/F | 0.3697 | ambiguous | 0.4464 | ambiguous | -0.727 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.490314366 | None | None | I |
| V/G | 0.4435 | ambiguous | 0.5253 | ambiguous | -0.392 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | N | 0.501176412 | None | None | I |
| V/H | 0.8253 | likely_pathogenic | 0.8832 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | I |
| V/I | 0.0978 | likely_benign | 0.1063 | benign | -0.352 | Destabilizing | 0.997 | D | 0.401 | neutral | N | 0.480147779 | None | None | I |
| V/K | 0.6871 | likely_pathogenic | 0.7653 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| V/L | 0.4376 | ambiguous | 0.5077 | ambiguous | -0.352 | Destabilizing | 0.997 | D | 0.412 | neutral | N | 0.511046689 | None | None | I |
| V/M | 0.2902 | likely_benign | 0.3642 | ambiguous | -0.56 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | I |
| V/N | 0.5755 | likely_pathogenic | 0.667 | pathogenic | -0.168 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| V/P | 0.5509 | ambiguous | 0.6213 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | I |
| V/Q | 0.6349 | likely_pathogenic | 0.7094 | pathogenic | -0.354 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| V/R | 0.5941 | likely_pathogenic | 0.6687 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| V/S | 0.3611 | ambiguous | 0.436 | ambiguous | -0.492 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | I |
| V/T | 0.2311 | likely_benign | 0.273 | benign | -0.513 | Destabilizing | 0.999 | D | 0.505 | neutral | None | None | None | None | I |
| V/W | 0.9381 | likely_pathogenic | 0.9626 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| V/Y | 0.8094 | likely_pathogenic | 0.8575 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
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.