Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18315 | 55168;55169;55170 | chr2:178602459;178602458;178602457 | chr2:179467186;179467185;179467184 |
| N2AB | 16674 | 50245;50246;50247 | chr2:178602459;178602458;178602457 | chr2:179467186;179467185;179467184 |
| N2A | 15747 | 47464;47465;47466 | chr2:178602459;178602458;178602457 | chr2:179467186;179467185;179467184 |
| N2B | 9250 | 27973;27974;27975 | chr2:178602459;178602458;178602457 | chr2:179467186;179467185;179467184 |
| Novex-1 | 9375 | 28348;28349;28350 | chr2:178602459;178602458;178602457 | chr2:179467186;179467185;179467184 |
| Novex-2 | 9442 | 28549;28550;28551 | chr2:178602459;178602458;178602457 | chr2:179467186;179467185;179467184 |
| 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/D | rs779940105  |
-0.23 | 1.0 | N | 0.573 | 0.5 | 0.343334270461 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.73E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs779940105 |
-0.23 | 1.0 | N | 0.573 | 0.5 | 0.343334270461 | gnomAD-4.0.0 | 2.05436E-06 | None | None | None | None | N | None | 0 | 6.72405E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.619 | 0.423 | 0.338834610459 | gnomAD-4.0.0 | 1.36961E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.31719E-05 |
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 | 0.2731 | likely_benign | 0.2822 | benign | -0.293 | Destabilizing | 1.0 | D | 0.54 | neutral | N | 0.480032973 | None | None | N |
| G/C | 0.3793 | ambiguous | 0.4161 | ambiguous | -0.96 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.510507491 | None | None | N |
| G/D | 0.2501 | likely_benign | 0.23 | benign | -0.785 | Destabilizing | 1.0 | D | 0.573 | neutral | N | 0.491660347 | None | None | N |
| G/E | 0.3322 | likely_benign | 0.3299 | benign | -0.95 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | N |
| G/F | 0.7038 | likely_pathogenic | 0.7427 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| G/H | 0.6262 | likely_pathogenic | 0.633 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/I | 0.502 | ambiguous | 0.5836 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | N |
| G/K | 0.6309 | likely_pathogenic | 0.6628 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/L | 0.6452 | likely_pathogenic | 0.6793 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| G/M | 0.6212 | likely_pathogenic | 0.6531 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/N | 0.3198 | likely_benign | 0.2918 | benign | -0.415 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| G/P | 0.9114 | likely_pathogenic | 0.9427 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| G/Q | 0.5616 | ambiguous | 0.5631 | ambiguous | -0.714 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| G/R | 0.6059 | likely_pathogenic | 0.628 | pathogenic | -0.27 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.487653069 | None | None | N |
| G/S | 0.2171 | likely_benign | 0.2133 | benign | -0.521 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.468712666 | None | None | N |
| G/T | 0.3396 | likely_benign | 0.3494 | ambiguous | -0.629 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| G/V | 0.3793 | ambiguous | 0.4386 | ambiguous | -0.453 | Destabilizing | 1.0 | D | 0.659 | neutral | N | 0.484805913 | None | None | N |
| G/W | 0.6115 | likely_pathogenic | 0.6365 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| G/Y | 0.5689 | likely_pathogenic | 0.5832 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.645 | 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.