Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16397 | 49414;49415;49416 | chr2:178614208;178614207;178614206 | chr2:179478935;179478934;179478933 |
| N2AB | 14756 | 44491;44492;44493 | chr2:178614208;178614207;178614206 | chr2:179478935;179478934;179478933 |
| N2A | 13829 | 41710;41711;41712 | chr2:178614208;178614207;178614206 | chr2:179478935;179478934;179478933 |
| N2B | 7332 | 22219;22220;22221 | chr2:178614208;178614207;178614206 | chr2:179478935;179478934;179478933 |
| Novex-1 | 7457 | 22594;22595;22596 | chr2:178614208;178614207;178614206 | chr2:179478935;179478934;179478933 |
| Novex-2 | 7524 | 22795;22796;22797 | chr2:178614208;178614207;178614206 | chr2:179478935;179478934;179478933 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/G | rs761480322  |
-1.221 | 0.497 | N | 0.505 | 0.265 | 0.663191565261 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| V/G | rs761480322 |
-1.221 | 0.497 | N | 0.505 | 0.265 | 0.663191565261 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs761480322 |
-1.221 | 0.497 | N | 0.505 | 0.265 | 0.663191565261 | gnomAD-4.0.0 | 5.13209E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.5847E-06 | 0 | 0 |
| V/L | None | None | 0.009 | N | 0.179 | 0.048 | 0.126345400529 | gnomAD-4.0.0 | 3.18733E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86656E-05 | 0 |
| V/M | rs397517595 |
None | 0.009 | N | 0.238 | 0.063 | 0.170165803431 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/M | rs397517595 |
None | 0.009 | N | 0.238 | 0.063 | 0.170165803431 | gnomAD-4.0.0 | 6.58553E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47293E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1489 | likely_benign | 0.1597 | benign | -0.775 | Destabilizing | 0.055 | N | 0.351 | neutral | N | 0.469884518 | None | None | N |
| V/C | 0.5961 | likely_pathogenic | 0.6119 | pathogenic | -0.417 | Destabilizing | 0.968 | D | 0.408 | neutral | None | None | None | None | N |
| V/D | 0.2062 | likely_benign | 0.2147 | benign | -0.737 | Destabilizing | 0.726 | D | 0.525 | neutral | None | None | None | None | N |
| V/E | 0.1823 | likely_benign | 0.1808 | benign | -0.826 | Destabilizing | 0.667 | D | 0.485 | neutral | N | 0.407732421 | None | None | N |
| V/F | 0.1314 | likely_benign | 0.1343 | benign | -0.865 | Destabilizing | 0.567 | D | 0.367 | neutral | None | None | None | None | N |
| V/G | 0.1653 | likely_benign | 0.174 | benign | -0.957 | Destabilizing | 0.497 | N | 0.505 | neutral | N | 0.440589101 | None | None | N |
| V/H | 0.3952 | ambiguous | 0.4101 | ambiguous | -0.515 | Destabilizing | 0.968 | D | 0.561 | neutral | None | None | None | None | N |
| V/I | 0.0647 | likely_benign | 0.0648 | benign | -0.421 | Destabilizing | None | N | 0.153 | neutral | None | None | None | None | N |
| V/K | 0.258 | likely_benign | 0.2386 | benign | -0.655 | Destabilizing | 0.567 | D | 0.475 | neutral | None | None | None | None | N |
| V/L | 0.1248 | likely_benign | 0.1196 | benign | -0.421 | Destabilizing | 0.009 | N | 0.179 | neutral | N | 0.458979865 | None | None | N |
| V/M | 0.1037 | likely_benign | 0.1041 | benign | -0.353 | Destabilizing | 0.009 | N | 0.238 | neutral | N | 0.471622872 | None | None | N |
| V/N | 0.1304 | likely_benign | 0.1349 | benign | -0.274 | Destabilizing | 0.726 | D | 0.538 | neutral | None | None | None | None | N |
| V/P | 0.5668 | likely_pathogenic | 0.6173 | pathogenic | -0.505 | Destabilizing | 0.89 | D | 0.477 | neutral | None | None | None | None | N |
| V/Q | 0.2287 | likely_benign | 0.2213 | benign | -0.536 | Destabilizing | 0.567 | D | 0.493 | neutral | None | None | None | None | N |
| V/R | 0.2822 | likely_benign | 0.2638 | benign | -0.079 | Destabilizing | 0.567 | D | 0.529 | neutral | None | None | None | None | N |
| V/S | 0.1437 | likely_benign | 0.1537 | benign | -0.608 | Destabilizing | 0.567 | D | 0.403 | neutral | None | None | None | None | N |
| V/T | 0.1294 | likely_benign | 0.1344 | benign | -0.604 | Destabilizing | 0.272 | N | 0.319 | neutral | None | None | None | None | N |
| V/W | 0.6707 | likely_pathogenic | 0.6815 | pathogenic | -0.973 | Destabilizing | 0.968 | D | 0.615 | neutral | None | None | None | None | N |
| V/Y | 0.3527 | ambiguous | 0.3529 | ambiguous | -0.69 | Destabilizing | 0.726 | D | 0.352 | 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.