Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23766 | 71521;71522;71523 | chr2:178574836;178574835;178574834 | chr2:179439563;179439562;179439561 |
| N2AB | 22125 | 66598;66599;66600 | chr2:178574836;178574835;178574834 | chr2:179439563;179439562;179439561 |
| N2A | 21198 | 63817;63818;63819 | chr2:178574836;178574835;178574834 | chr2:179439563;179439562;179439561 |
| N2B | 14701 | 44326;44327;44328 | chr2:178574836;178574835;178574834 | chr2:179439563;179439562;179439561 |
| Novex-1 | 14826 | 44701;44702;44703 | chr2:178574836;178574835;178574834 | chr2:179439563;179439562;179439561 |
| Novex-2 | 14893 | 44902;44903;44904 | chr2:178574836;178574835;178574834 | chr2:179439563;179439562;179439561 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1709497940  |
None | 0.012 | N | 0.363 | 0.137 | 0.513846082701 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| M/I | rs1709497940 |
None | 0.012 | N | 0.363 | 0.137 | 0.513846082701 | 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 |
| M/T | rs1709499328 |
None | 0.801 | N | 0.57 | 0.322 | 0.72115425279 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| M/T | rs1709499328 |
None | 0.801 | N | 0.57 | 0.322 | 0.72115425279 | gnomAD-4.0.0 | 6.5773E-06 | None | None | None | None | N | None | 2.41371E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.6602 | likely_pathogenic | 0.6652 | pathogenic | -1.395 | Destabilizing | 0.688 | D | 0.55 | neutral | None | None | None | None | N |
| M/C | 0.7462 | likely_pathogenic | 0.7348 | pathogenic | -1.465 | Destabilizing | 0.998 | D | 0.633 | neutral | None | None | None | None | N |
| M/D | 0.9938 | likely_pathogenic | 0.9936 | pathogenic | -1.52 | Destabilizing | 0.991 | D | 0.699 | prob.neutral | None | None | None | None | N |
| M/E | 0.8547 | likely_pathogenic | 0.8622 | pathogenic | -1.244 | Destabilizing | 0.991 | D | 0.673 | neutral | None | None | None | None | N |
| M/F | 0.5493 | ambiguous | 0.5378 | ambiguous | -0.207 | Destabilizing | 0.842 | D | 0.602 | neutral | None | None | None | None | N |
| M/G | 0.9012 | likely_pathogenic | 0.8933 | pathogenic | -1.901 | Destabilizing | 0.991 | D | 0.676 | prob.neutral | None | None | None | None | N |
| M/H | 0.8243 | likely_pathogenic | 0.8085 | pathogenic | -1.845 | Destabilizing | 0.998 | D | 0.686 | prob.neutral | None | None | None | None | N |
| M/I | 0.4055 | ambiguous | 0.5038 | ambiguous | 0.068 | Stabilizing | 0.012 | N | 0.363 | neutral | N | 0.442884965 | None | None | N |
| M/K | 0.2948 | likely_benign | 0.2785 | benign | -0.641 | Destabilizing | 0.891 | D | 0.585 | neutral | N | 0.436593711 | None | None | N |
| M/L | 0.2055 | likely_benign | 0.2273 | benign | 0.068 | Stabilizing | 0.136 | N | 0.471 | neutral | N | 0.483691438 | None | None | N |
| M/N | 0.9046 | likely_pathogenic | 0.9076 | pathogenic | -1.228 | Destabilizing | 0.991 | D | 0.666 | neutral | None | None | None | None | N |
| M/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.403 | Destabilizing | 0.991 | D | 0.67 | neutral | None | None | None | None | N |
| M/Q | 0.4184 | ambiguous | 0.4066 | ambiguous | -0.772 | Destabilizing | 0.991 | D | 0.589 | neutral | None | None | None | None | N |
| M/R | 0.3968 | ambiguous | 0.3891 | ambiguous | -1.124 | Destabilizing | 0.989 | D | 0.621 | neutral | N | 0.441692886 | None | None | N |
| M/S | 0.7692 | likely_pathogenic | 0.7653 | pathogenic | -1.668 | Destabilizing | 0.915 | D | 0.571 | neutral | None | None | None | None | N |
| M/T | 0.5608 | ambiguous | 0.5751 | pathogenic | -1.248 | Destabilizing | 0.801 | D | 0.57 | neutral | N | 0.502394628 | None | None | N |
| M/V | 0.1714 | likely_benign | 0.2057 | benign | -0.403 | Destabilizing | 0.267 | N | 0.489 | neutral | N | 0.474263878 | None | None | N |
| M/W | 0.8678 | likely_pathogenic | 0.8588 | pathogenic | -0.62 | Destabilizing | 0.998 | D | 0.637 | neutral | None | None | None | None | N |
| M/Y | 0.752 | likely_pathogenic | 0.717 | pathogenic | -0.467 | Destabilizing | 0.991 | D | 0.622 | 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.