Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15531 | 46816;46817;46818 | chr2:178619726;178619725;178619724 | chr2:179484453;179484452;179484451 |
| N2AB | 13890 | 41893;41894;41895 | chr2:178619726;178619725;178619724 | chr2:179484453;179484452;179484451 |
| N2A | 12963 | 39112;39113;39114 | chr2:178619726;178619725;178619724 | chr2:179484453;179484452;179484451 |
| N2B | 6466 | 19621;19622;19623 | chr2:178619726;178619725;178619724 | chr2:179484453;179484452;179484451 |
| Novex-1 | 6591 | 19996;19997;19998 | chr2:178619726;178619725;178619724 | chr2:179484453;179484452;179484451 |
| Novex-2 | 6658 | 20197;20198;20199 | chr2:178619726;178619725;178619724 | chr2:179484453;179484452;179484451 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs761815745  |
-0.577 | 1.0 | D | 0.659 | 0.661 | 0.861762967768 | gnomAD-2.1.1 | 3.63E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 5.35E-05 | 0 |
| G/R | rs761815745 |
-0.577 | 1.0 | D | 0.659 | 0.661 | 0.861762967768 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs761815745 |
-0.577 | 1.0 | D | 0.659 | 0.661 | 0.861762967768 | gnomAD-4.0.0 | 6.58918E-06 | None | None | None | None | N | None | 2.41698E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6469 | likely_pathogenic | 0.6745 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.556 | neutral | D | 0.584506545 | None | None | N |
| G/C | 0.8353 | likely_pathogenic | 0.8477 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/D | 0.5033 | ambiguous | 0.6327 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| G/E | 0.6876 | likely_pathogenic | 0.758 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.648090264 | None | None | N |
| G/F | 0.9716 | likely_pathogenic | 0.9759 | pathogenic | -1.132 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/H | 0.9015 | likely_pathogenic | 0.9143 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/I | 0.9637 | likely_pathogenic | 0.9647 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| G/K | 0.8899 | likely_pathogenic | 0.9098 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/L | 0.9481 | likely_pathogenic | 0.9549 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| G/M | 0.9534 | likely_pathogenic | 0.9593 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| G/N | 0.6017 | likely_pathogenic | 0.6441 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| G/P | 0.9904 | likely_pathogenic | 0.9928 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/Q | 0.8356 | likely_pathogenic | 0.8512 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/R | 0.843 | likely_pathogenic | 0.8478 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.659 | neutral | D | 0.568790851 | None | None | N |
| G/S | 0.4201 | ambiguous | 0.4718 | ambiguous | -0.724 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/T | 0.8516 | likely_pathogenic | 0.8392 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/V | 0.9191 | likely_pathogenic | 0.9215 | pathogenic | -0.43 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.645774028 | None | None | N |
| G/W | 0.9315 | likely_pathogenic | 0.9262 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/Y | 0.9167 | likely_pathogenic | 0.923 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.673 | 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.