Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1481 | 4666;4667;4668 | chr2:178777743;178777742;178777741 | chr2:179642470;179642469;179642468 |
| N2AB | 1481 | 4666;4667;4668 | chr2:178777743;178777742;178777741 | chr2:179642470;179642469;179642468 |
| N2A | 1481 | 4666;4667;4668 | chr2:178777743;178777742;178777741 | chr2:179642470;179642469;179642468 |
| N2B | 1435 | 4528;4529;4530 | chr2:178777743;178777742;178777741 | chr2:179642470;179642469;179642468 |
| Novex-1 | 1435 | 4528;4529;4530 | chr2:178777743;178777742;178777741 | chr2:179642470;179642469;179642468 |
| Novex-2 | 1435 | 4528;4529;4530 | chr2:178777743;178777742;178777741 | chr2:179642470;179642469;179642468 |
| Novex-3 | 1481 | 4666;4667;4668 | chr2:178777743;178777742;178777741 | chr2:179642470;179642469;179642468 |
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 | rs1252349535  |
-0.989 | 0.999 | N | 0.491 | 0.359 | 0.68405526017 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | I | None | 0 | 0 | None | 1.98728E-04 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1252349535 |
-0.989 | 0.999 | N | 0.491 | 0.359 | 0.68405526017 | gnomAD-4.0.0 | 4.10463E-06 | None | None | None | None | I | None | 0 | 2.23614E-05 | None | 7.65404E-05 | 0 | None | 0 | 0 | 8.99332E-07 | 0 | 3.31181E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6277 | likely_pathogenic | 0.6647 | pathogenic | -1.355 | Destabilizing | 0.999 | D | 0.491 | neutral | N | 0.50619126 | None | None | I |
| V/C | 0.9812 | likely_pathogenic | 0.98 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| V/D | 0.9841 | likely_pathogenic | 0.9868 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.504892292 | None | None | I |
| V/E | 0.9351 | likely_pathogenic | 0.9497 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | I |
| V/F | 0.7649 | likely_pathogenic | 0.7804 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.511101515 | None | None | I |
| V/G | 0.8713 | likely_pathogenic | 0.8774 | pathogenic | -1.68 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.510673167 | None | None | I |
| V/H | 0.9838 | likely_pathogenic | 0.9848 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| V/I | 0.183 | likely_benign | 0.1825 | benign | -0.562 | Destabilizing | 0.997 | D | 0.422 | neutral | N | 0.509603973 | None | None | I |
| V/K | 0.9492 | likely_pathogenic | 0.9593 | pathogenic | -1.228 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| V/L | 0.7734 | likely_pathogenic | 0.7739 | pathogenic | -0.562 | Destabilizing | 0.997 | D | 0.47 | neutral | N | 0.509931086 | None | None | I |
| V/M | 0.6818 | likely_pathogenic | 0.6892 | pathogenic | -0.384 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| V/N | 0.9593 | likely_pathogenic | 0.9613 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| V/P | 0.9917 | likely_pathogenic | 0.99 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| V/Q | 0.9296 | likely_pathogenic | 0.9356 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| V/R | 0.9 | likely_pathogenic | 0.9156 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| V/S | 0.7794 | likely_pathogenic | 0.805 | pathogenic | -1.485 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| V/T | 0.5262 | ambiguous | 0.5637 | ambiguous | -1.371 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | I |
| V/W | 0.993 | likely_pathogenic | 0.9936 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| V/Y | 0.9746 | likely_pathogenic | 0.9769 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
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.