Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25452 | 76579;76580;76581 | chr2:178569778;178569777;178569776 | chr2:179434505;179434504;179434503 |
| N2AB | 23811 | 71656;71657;71658 | chr2:178569778;178569777;178569776 | chr2:179434505;179434504;179434503 |
| N2A | 22884 | 68875;68876;68877 | chr2:178569778;178569777;178569776 | chr2:179434505;179434504;179434503 |
| N2B | 16387 | 49384;49385;49386 | chr2:178569778;178569777;178569776 | chr2:179434505;179434504;179434503 |
| Novex-1 | 16512 | 49759;49760;49761 | chr2:178569778;178569777;178569776 | chr2:179434505;179434504;179434503 |
| Novex-2 | 16579 | 49960;49961;49962 | chr2:178569778;178569777;178569776 | chr2:179434505;179434504;179434503 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.743 | 0.628 | 0.770882657251 | gnomAD-4.0.0 | 7.96115E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.57765E-06 | 1.43316E-05 | 3.0259E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9817 | likely_pathogenic | 0.9796 | pathogenic | -2.585 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| W/C | 0.9943 | likely_pathogenic | 0.9941 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.480512001 | None | None | N |
| W/D | 0.9929 | likely_pathogenic | 0.9922 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/E | 0.9948 | likely_pathogenic | 0.9941 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| W/F | 0.655 | likely_pathogenic | 0.6721 | pathogenic | -1.734 | Destabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
| W/G | 0.9447 | likely_pathogenic | 0.9279 | pathogenic | -2.774 | Highly Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.514643369 | None | None | N |
| W/H | 0.9848 | likely_pathogenic | 0.9834 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| W/I | 0.974 | likely_pathogenic | 0.973 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| W/K | 0.9968 | likely_pathogenic | 0.9962 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | N |
| W/L | 0.9414 | likely_pathogenic | 0.9404 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.649 | neutral | N | 0.519870382 | None | None | N |
| W/M | 0.9738 | likely_pathogenic | 0.9719 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| W/N | 0.9893 | likely_pathogenic | 0.989 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/P | 0.9896 | likely_pathogenic | 0.9884 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9974 | likely_pathogenic | 0.9967 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/R | 0.996 | likely_pathogenic | 0.9957 | pathogenic | -0.249 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.532240645 | None | None | N |
| W/S | 0.9694 | likely_pathogenic | 0.9665 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.509109961 | None | None | N |
| W/T | 0.9792 | likely_pathogenic | 0.9774 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| W/V | 0.9717 | likely_pathogenic | 0.9702 | pathogenic | -2.162 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| W/Y | 0.815 | likely_pathogenic | 0.8201 | pathogenic | -1.548 | Destabilizing | 1.0 | D | 0.531 | 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.