Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3188 | 9787;9788;9789 | chr2:178766522;178766521;178766520 | chr2:179631249;179631248;179631247 |
| N2AB | 3188 | 9787;9788;9789 | chr2:178766522;178766521;178766520 | chr2:179631249;179631248;179631247 |
| N2A | 3188 | 9787;9788;9789 | chr2:178766522;178766521;178766520 | chr2:179631249;179631248;179631247 |
| N2B | 3142 | 9649;9650;9651 | chr2:178766522;178766521;178766520 | chr2:179631249;179631248;179631247 |
| Novex-1 | 3142 | 9649;9650;9651 | chr2:178766522;178766521;178766520 | chr2:179631249;179631248;179631247 |
| Novex-2 | 3142 | 9649;9650;9651 | chr2:178766522;178766521;178766520 | chr2:179631249;179631248;179631247 |
| Novex-3 | 3188 | 9787;9788;9789 | chr2:178766522;178766521;178766520 | chr2:179631249;179631248;179631247 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/S | rs776753598  |
-1.355 | 0.997 | N | 0.553 | 0.481 | 0.748638279011 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| F/S | rs776753598 |
-1.355 | 0.997 | N | 0.553 | 0.481 | 0.748638279011 | gnomAD-4.0.0 | 1.59057E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85657E-06 | 0 | 0 |
| F/Y | rs776753598 |
-0.356 | 0.997 | D | 0.5 | 0.304 | 0.506373324096 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/Y | rs776753598 |
-0.356 | 0.997 | D | 0.5 | 0.304 | 0.506373324096 | gnomAD-4.0.0 | 1.59057E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9696 | likely_pathogenic | 0.9644 | pathogenic | -2.652 | Highly Destabilizing | 0.985 | D | 0.538 | neutral | None | None | None | None | N |
| F/C | 0.9297 | likely_pathogenic | 0.9105 | pathogenic | -1.692 | Destabilizing | 1.0 | D | 0.627 | neutral | D | 0.53114888 | None | None | N |
| F/D | 0.9818 | likely_pathogenic | 0.9816 | pathogenic | -2.969 | Highly Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| F/E | 0.9874 | likely_pathogenic | 0.9863 | pathogenic | -2.8 | Highly Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| F/G | 0.9817 | likely_pathogenic | 0.9804 | pathogenic | -3.059 | Highly Destabilizing | 0.999 | D | 0.58 | neutral | None | None | None | None | N |
| F/H | 0.9423 | likely_pathogenic | 0.9402 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.583 | neutral | None | None | None | None | N |
| F/I | 0.7641 | likely_pathogenic | 0.7682 | pathogenic | -1.34 | Destabilizing | 0.961 | D | 0.533 | neutral | N | 0.50842364 | None | None | N |
| F/K | 0.9908 | likely_pathogenic | 0.9899 | pathogenic | -1.981 | Destabilizing | 0.999 | D | 0.63 | neutral | None | None | None | None | N |
| F/L | 0.9617 | likely_pathogenic | 0.963 | pathogenic | -1.34 | Destabilizing | 0.135 | N | 0.174 | neutral | N | 0.500444872 | None | None | N |
| F/M | 0.895 | likely_pathogenic | 0.883 | pathogenic | -0.994 | Destabilizing | 0.996 | D | 0.5 | neutral | None | None | None | None | N |
| F/N | 0.9688 | likely_pathogenic | 0.9643 | pathogenic | -2.344 | Highly Destabilizing | 0.999 | D | 0.646 | neutral | None | None | None | None | N |
| F/P | 0.9872 | likely_pathogenic | 0.9853 | pathogenic | -1.785 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| F/Q | 0.9836 | likely_pathogenic | 0.9811 | pathogenic | -2.353 | Highly Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | N |
| F/R | 0.9799 | likely_pathogenic | 0.9784 | pathogenic | -1.439 | Destabilizing | 0.999 | D | 0.644 | neutral | None | None | None | None | N |
| F/S | 0.9465 | likely_pathogenic | 0.9472 | pathogenic | -2.963 | Highly Destabilizing | 0.997 | D | 0.553 | neutral | N | 0.516519151 | None | None | N |
| F/T | 0.9477 | likely_pathogenic | 0.94 | pathogenic | -2.686 | Highly Destabilizing | 0.985 | D | 0.527 | neutral | None | None | None | None | N |
| F/V | 0.7847 | likely_pathogenic | 0.783 | pathogenic | -1.785 | Destabilizing | 0.4 | N | 0.251 | neutral | D | 0.528739248 | None | None | N |
| F/W | 0.8336 | likely_pathogenic | 0.8184 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.532 | neutral | None | None | None | None | N |
| F/Y | 0.5104 | ambiguous | 0.4598 | ambiguous | -0.87 | Destabilizing | 0.997 | D | 0.5 | neutral | D | 0.530965575 | 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.