Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14678 | 44257;44258;44259 | chr2:178630926;178630925;178630924 | chr2:179495653;179495652;179495651 |
| N2AB | 13037 | 39334;39335;39336 | chr2:178630926;178630925;178630924 | chr2:179495653;179495652;179495651 |
| N2A | 12110 | 36553;36554;36555 | chr2:178630926;178630925;178630924 | chr2:179495653;179495652;179495651 |
| N2B | 5613 | 17062;17063;17064 | chr2:178630926;178630925;178630924 | chr2:179495653;179495652;179495651 |
| Novex-1 | 5738 | 17437;17438;17439 | chr2:178630926;178630925;178630924 | chr2:179495653;179495652;179495651 |
| Novex-2 | 5805 | 17638;17639;17640 | chr2:178630926;178630925;178630924 | chr2:179495653;179495652;179495651 |
| 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/E | None | None | 0.966 | N | 0.695 | 0.315 | 0.535537035517 | gnomAD-4.0.0 | 1.59644E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86316E-06 | 0 | 0 |
| V/L | None | None | 0.012 | N | 0.32 | 0.064 | 0.263612267334 | gnomAD-4.0.0 | 6.85168E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99978E-07 | 0 | 0 |
| V/M | rs761738561  |
-0.402 | 0.933 | D | 0.564 | 0.215 | 0.359557344763 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| V/M | rs761738561 |
-0.402 | 0.933 | D | 0.564 | 0.215 | 0.359557344763 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/M | rs761738561 |
-0.402 | 0.933 | D | 0.564 | 0.215 | 0.359557344763 | gnomAD-4.0.0 | 2.48222E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.39237E-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 | 0.2634 | likely_benign | 0.232 | benign | -0.936 | Destabilizing | 0.622 | D | 0.529 | neutral | N | 0.487816029 | None | None | N |
| V/C | 0.7974 | likely_pathogenic | 0.7505 | pathogenic | -0.788 | Destabilizing | 0.998 | D | 0.628 | neutral | None | None | None | None | N |
| V/D | 0.4993 | ambiguous | 0.4245 | ambiguous | -0.655 | Destabilizing | 0.974 | D | 0.766 | deleterious | None | None | None | None | N |
| V/E | 0.3113 | likely_benign | 0.269 | benign | -0.719 | Destabilizing | 0.966 | D | 0.695 | prob.delet. | N | 0.439466465 | None | None | N |
| V/F | 0.2085 | likely_benign | 0.1762 | benign | -0.788 | Destabilizing | 0.949 | D | 0.615 | neutral | None | None | None | None | N |
| V/G | 0.3261 | likely_benign | 0.2599 | benign | -1.155 | Destabilizing | 0.966 | D | 0.637 | neutral | D | 0.529747479 | None | None | N |
| V/H | 0.5836 | likely_pathogenic | 0.537 | ambiguous | -0.547 | Destabilizing | 0.998 | D | 0.784 | deleterious | None | None | None | None | N |
| V/I | 0.0747 | likely_benign | 0.0735 | benign | -0.477 | Destabilizing | 0.016 | N | 0.231 | neutral | None | None | None | None | N |
| V/K | 0.3506 | ambiguous | 0.299 | benign | -0.879 | Destabilizing | 0.974 | D | 0.691 | prob.delet. | None | None | None | None | N |
| V/L | 0.1222 | likely_benign | 0.1001 | benign | -0.477 | Destabilizing | 0.012 | N | 0.32 | neutral | N | 0.432485556 | None | None | N |
| V/M | 0.1596 | likely_benign | 0.1464 | benign | -0.456 | Destabilizing | 0.933 | D | 0.564 | neutral | D | 0.528794009 | None | None | N |
| V/N | 0.3651 | ambiguous | 0.3196 | benign | -0.666 | Destabilizing | 0.974 | D | 0.731 | deleterious | None | None | None | None | N |
| V/P | 0.8641 | likely_pathogenic | 0.7793 | pathogenic | -0.594 | Destabilizing | 0.991 | D | 0.725 | deleterious | None | None | None | None | N |
| V/Q | 0.318 | likely_benign | 0.2738 | benign | -0.887 | Destabilizing | 0.991 | D | 0.74 | deleterious | None | None | None | None | N |
| V/R | 0.3386 | likely_benign | 0.2689 | benign | -0.276 | Destabilizing | 0.974 | D | 0.753 | deleterious | None | None | None | None | N |
| V/S | 0.3028 | likely_benign | 0.2669 | benign | -1.106 | Destabilizing | 0.903 | D | 0.589 | neutral | None | None | None | None | N |
| V/T | 0.238 | likely_benign | 0.2059 | benign | -1.068 | Destabilizing | 0.141 | N | 0.255 | neutral | None | None | None | None | N |
| V/W | 0.8249 | likely_pathogenic | 0.7579 | pathogenic | -0.884 | Destabilizing | 0.998 | D | 0.774 | deleterious | None | None | None | None | N |
| V/Y | 0.61 | likely_pathogenic | 0.5486 | ambiguous | -0.62 | Destabilizing | 0.974 | D | 0.562 | 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.