Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26977 | 81154;81155;81156 | chr2:178565203;178565202;178565201 | chr2:179429930;179429929;179429928 |
| N2AB | 25336 | 76231;76232;76233 | chr2:178565203;178565202;178565201 | chr2:179429930;179429929;179429928 |
| N2A | 24409 | 73450;73451;73452 | chr2:178565203;178565202;178565201 | chr2:179429930;179429929;179429928 |
| N2B | 17912 | 53959;53960;53961 | chr2:178565203;178565202;178565201 | chr2:179429930;179429929;179429928 |
| Novex-1 | 18037 | 54334;54335;54336 | chr2:178565203;178565202;178565201 | chr2:179429930;179429929;179429928 |
| Novex-2 | 18104 | 54535;54536;54537 | chr2:178565203;178565202;178565201 | chr2:179429930;179429929;179429928 |
| 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/A | rs774769114  |
-1.566 | 0.012 | N | 0.54 | 0.045 | None | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs774769114 |
-1.566 | 0.012 | N | 0.54 | 0.045 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs774769114 |
-1.566 | 0.012 | N | 0.54 | 0.045 | None | gnomAD-4.0.0 | 3.71874E-06 | None | None | None | None | N | None | 4.00513E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54307E-06 | 0 | 0 |
| V/F | None | None | 0.295 | D | 0.619 | 0.076 | 0.424549175451 | 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 |
| V/G | rs774769114 |
None | 0.055 | N | 0.643 | 0.109 | 0.414539908741 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs774769114 |
None | 0.055 | N | 0.643 | 0.109 | 0.414539908741 | gnomAD-4.0.0 | 2.47916E-06 | None | None | None | None | N | None | 0 | 1.66789E-05 | None | 0 | 0 | None | 0 | 0 | 1.69538E-06 | 0 | 1.60159E-05 |
| V/I | None | None | 0.029 | N | 0.573 | 0.021 | 0.18995819373 | 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 |
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 | 0.0813 | likely_benign | 0.0771 | benign | -1.388 | Destabilizing | 0.012 | N | 0.54 | neutral | N | 0.453163461 | None | None | N |
| V/C | 0.5133 | ambiguous | 0.4722 | ambiguous | -0.703 | Destabilizing | 0.676 | D | 0.627 | neutral | None | None | None | None | N |
| V/D | 0.2472 | likely_benign | 0.2407 | benign | -1.494 | Destabilizing | 0.055 | N | 0.677 | prob.neutral | N | 0.493626004 | None | None | N |
| V/E | 0.1459 | likely_benign | 0.1502 | benign | -1.511 | Destabilizing | 0.016 | N | 0.581 | neutral | None | None | None | None | N |
| V/F | 0.1753 | likely_benign | 0.1584 | benign | -1.113 | Destabilizing | 0.295 | N | 0.619 | neutral | D | 0.522639402 | None | None | N |
| V/G | 0.124 | likely_benign | 0.1158 | benign | -1.679 | Destabilizing | 0.055 | N | 0.643 | neutral | N | 0.451971382 | None | None | N |
| V/H | 0.3522 | ambiguous | 0.3317 | benign | -1.366 | Destabilizing | 0.356 | N | 0.719 | prob.delet. | None | None | None | None | N |
| V/I | 0.0797 | likely_benign | 0.0763 | benign | -0.694 | Destabilizing | 0.029 | N | 0.573 | neutral | N | 0.502493416 | None | None | N |
| V/K | 0.1199 | likely_benign | 0.1377 | benign | -1.335 | Destabilizing | None | N | 0.533 | neutral | None | None | None | None | N |
| V/L | 0.1222 | likely_benign | 0.1133 | benign | -0.694 | Destabilizing | 0.012 | N | 0.558 | neutral | N | 0.454971615 | None | None | N |
| V/M | 0.1064 | likely_benign | 0.0955 | benign | -0.425 | Destabilizing | 0.356 | N | 0.563 | neutral | None | None | None | None | N |
| V/N | 0.1586 | likely_benign | 0.1495 | benign | -1.02 | Destabilizing | 0.072 | N | 0.698 | prob.neutral | None | None | None | None | N |
| V/P | 0.7172 | likely_pathogenic | 0.6793 | pathogenic | -0.892 | Destabilizing | 0.136 | N | 0.699 | prob.neutral | None | None | None | None | N |
| V/Q | 0.1396 | likely_benign | 0.1468 | benign | -1.209 | Destabilizing | 0.001 | N | 0.546 | neutral | None | None | None | None | N |
| V/R | 0.1144 | likely_benign | 0.1354 | benign | -0.774 | Destabilizing | None | N | 0.576 | neutral | None | None | None | None | N |
| V/S | 0.0992 | likely_benign | 0.0946 | benign | -1.411 | Destabilizing | 0.016 | N | 0.581 | neutral | None | None | None | None | N |
| V/T | 0.0744 | likely_benign | 0.0722 | benign | -1.337 | Destabilizing | None | N | 0.343 | neutral | None | None | None | None | N |
| V/W | 0.7677 | likely_pathogenic | 0.7234 | pathogenic | -1.347 | Destabilizing | 0.864 | D | 0.712 | prob.delet. | None | None | None | None | N |
| V/Y | 0.4796 | ambiguous | 0.4346 | ambiguous | -1.077 | Destabilizing | 0.356 | N | 0.619 | 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.