Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29057 | 87394;87395;87396 | chr2:178558185;178558184;178558183 | chr2:179422912;179422911;179422910 |
| N2AB | 27416 | 82471;82472;82473 | chr2:178558185;178558184;178558183 | chr2:179422912;179422911;179422910 |
| N2A | 26489 | 79690;79691;79692 | chr2:178558185;178558184;178558183 | chr2:179422912;179422911;179422910 |
| N2B | 19992 | 60199;60200;60201 | chr2:178558185;178558184;178558183 | chr2:179422912;179422911;179422910 |
| Novex-1 | 20117 | 60574;60575;60576 | chr2:178558185;178558184;178558183 | chr2:179422912;179422911;179422910 |
| Novex-2 | 20184 | 60775;60776;60777 | chr2:178558185;178558184;178558183 | chr2:179422912;179422911;179422910 |
| 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/T | rs753286150  |
-0.197 | 0.22 | N | 0.549 | 0.293 | 0.427139414373 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| R/T | rs753286150 |
-0.197 | 0.22 | N | 0.549 | 0.293 | 0.427139414373 | gnomAD-4.0.0 | 3.18573E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85858E-06 | 1.43819E-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 | 0.7531 | likely_pathogenic | 0.7584 | pathogenic | -0.108 | Destabilizing | 0.157 | N | 0.585 | neutral | None | None | None | None | I |
| R/C | 0.3756 | ambiguous | 0.3801 | ambiguous | -0.35 | Destabilizing | 0.968 | D | 0.668 | neutral | None | None | None | None | I |
| R/D | 0.9464 | likely_pathogenic | 0.9494 | pathogenic | -0.15 | Destabilizing | 0.567 | D | 0.561 | neutral | None | None | None | None | I |
| R/E | 0.7568 | likely_pathogenic | 0.7579 | pathogenic | -0.095 | Destabilizing | 0.157 | N | 0.583 | neutral | None | None | None | None | I |
| R/F | 0.8166 | likely_pathogenic | 0.8292 | pathogenic | -0.391 | Destabilizing | 0.89 | D | 0.619 | neutral | None | None | None | None | I |
| R/G | 0.6631 | likely_pathogenic | 0.6917 | pathogenic | -0.282 | Destabilizing | 0.22 | N | 0.568 | neutral | D | 0.533174187 | None | None | I |
| R/H | 0.2218 | likely_benign | 0.2256 | benign | -0.716 | Destabilizing | 0.726 | D | 0.533 | neutral | None | None | None | None | I |
| R/I | 0.6095 | likely_pathogenic | 0.6218 | pathogenic | 0.31 | Stabilizing | 0.667 | D | 0.621 | neutral | N | 0.499677689 | None | None | I |
| R/K | 0.1159 | likely_benign | 0.1223 | benign | -0.232 | Destabilizing | None | N | 0.355 | neutral | N | 0.427468087 | None | None | I |
| R/L | 0.4581 | ambiguous | 0.4547 | ambiguous | 0.31 | Stabilizing | 0.272 | N | 0.568 | neutral | None | None | None | None | I |
| R/M | 0.5441 | ambiguous | 0.5347 | ambiguous | -0.08 | Destabilizing | 0.968 | D | 0.547 | neutral | None | None | None | None | I |
| R/N | 0.8934 | likely_pathogenic | 0.8997 | pathogenic | -0.082 | Destabilizing | 0.567 | D | 0.523 | neutral | None | None | None | None | I |
| R/P | 0.6911 | likely_pathogenic | 0.7138 | pathogenic | 0.19 | Stabilizing | 0.726 | D | 0.597 | neutral | None | None | None | None | I |
| R/Q | 0.2183 | likely_benign | 0.2122 | benign | -0.171 | Destabilizing | 0.396 | N | 0.537 | neutral | None | None | None | None | I |
| R/S | 0.8702 | likely_pathogenic | 0.8787 | pathogenic | -0.427 | Destabilizing | 0.124 | N | 0.599 | neutral | N | 0.505792798 | None | None | I |
| R/T | 0.6649 | likely_pathogenic | 0.653 | pathogenic | -0.244 | Destabilizing | 0.22 | N | 0.549 | neutral | N | 0.513894993 | None | None | I |
| R/V | 0.66 | likely_pathogenic | 0.6668 | pathogenic | 0.19 | Stabilizing | 0.567 | D | 0.613 | neutral | None | None | None | None | I |
| R/W | 0.3875 | ambiguous | 0.4 | ambiguous | -0.463 | Destabilizing | 0.968 | D | 0.675 | neutral | None | None | None | None | I |
| R/Y | 0.6786 | likely_pathogenic | 0.6921 | pathogenic | -0.053 | Destabilizing | 0.89 | D | 0.603 | 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.