Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9760 | 29503;29504;29505 | chr2:178706596;178706595;178706594 | chr2:179571323;179571322;179571321 |
| N2AB | 9443 | 28552;28553;28554 | chr2:178706596;178706595;178706594 | chr2:179571323;179571322;179571321 |
| N2A | 8516 | 25771;25772;25773 | chr2:178706596;178706595;178706594 | chr2:179571323;179571322;179571321 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | rs372537023  |
-0.698 | 1.0 | None | 0.419 | 0.386 | None | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.65E-05 | 0 |
| D/H | rs372537023 |
-0.698 | 1.0 | None | 0.419 | 0.386 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs372537023 |
-0.698 | 1.0 | None | 0.419 | 0.386 | None | gnomAD-4.0.0 | 1.05344E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44086E-05 | 0 | 0 |
| D/N | rs372537023 |
0.221 | 0.989 | None | 0.43 | 0.309 | 0.305410167561 | gnomAD-2.1.1 | 8.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| D/N | rs372537023 |
0.221 | 0.989 | None | 0.43 | 0.309 | 0.305410167561 | gnomAD-4.0.0 | 8.20987E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.8936E-06 | 0 | 1.65634E-05 |
| D/Y | None | None | 0.999 | None | 0.623 | 0.413 | 0.273503213844 | gnomAD-4.0.0 | 8.89402E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.16924E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.6568 | likely_pathogenic | 0.4039 | ambiguous | -0.29 | Destabilizing | 0.978 | D | 0.458 | neutral | None | None | None | None | N |
| D/C | 0.9646 | likely_pathogenic | 0.8847 | pathogenic | 0.166 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/E | 0.4632 | ambiguous | 0.3406 | ambiguous | -0.518 | Destabilizing | 0.198 | N | 0.255 | neutral | None | None | None | None | N |
| D/F | 0.9226 | likely_pathogenic | 0.8018 | pathogenic | -0.561 | Destabilizing | 0.999 | D | 0.62 | neutral | None | None | None | None | N |
| D/G | 0.3975 | ambiguous | 0.1988 | benign | -0.511 | Destabilizing | 0.989 | D | 0.435 | neutral | None | None | None | None | N |
| D/H | 0.8184 | likely_pathogenic | 0.6348 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.419 | neutral | None | None | None | None | N |
| D/I | 0.9501 | likely_pathogenic | 0.8296 | pathogenic | 0.247 | Stabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| D/K | 0.9 | likely_pathogenic | 0.7701 | pathogenic | 0.106 | Stabilizing | 0.983 | D | 0.413 | neutral | None | None | None | None | N |
| D/L | 0.8868 | likely_pathogenic | 0.7509 | pathogenic | 0.247 | Stabilizing | 0.998 | D | 0.617 | neutral | None | None | None | None | N |
| D/M | 0.9601 | likely_pathogenic | 0.9004 | pathogenic | 0.665 | Stabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| D/N | 0.2584 | likely_benign | 0.178 | benign | -0.073 | Destabilizing | 0.989 | D | 0.43 | neutral | None | None | None | None | N |
| D/P | 0.9913 | likely_pathogenic | 0.9663 | pathogenic | 0.091 | Stabilizing | 0.999 | D | 0.427 | neutral | None | None | None | None | N |
| D/Q | 0.8332 | likely_pathogenic | 0.702 | pathogenic | -0.053 | Destabilizing | 0.995 | D | 0.389 | neutral | None | None | None | None | N |
| D/R | 0.9149 | likely_pathogenic | 0.781 | pathogenic | 0.042 | Stabilizing | 0.995 | D | 0.54 | neutral | None | None | None | None | N |
| D/S | 0.4625 | ambiguous | 0.2875 | benign | -0.219 | Destabilizing | 0.983 | D | 0.377 | neutral | None | None | None | None | N |
| D/T | 0.8298 | likely_pathogenic | 0.6497 | pathogenic | -0.052 | Destabilizing | 0.998 | D | 0.402 | neutral | None | None | None | None | N |
| D/V | 0.8621 | likely_pathogenic | 0.6373 | pathogenic | 0.091 | Stabilizing | 0.997 | D | 0.611 | neutral | None | None | None | None | N |
| D/W | 0.9895 | likely_pathogenic | 0.9635 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| D/Y | 0.662 | likely_pathogenic | 0.41 | ambiguous | -0.361 | Destabilizing | 0.999 | D | 0.623 | 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.