Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1893 | 5902;5903;5904 | chr2:178776187;178776186;178776185 | chr2:179640914;179640913;179640912 |
| N2AB | 1893 | 5902;5903;5904 | chr2:178776187;178776186;178776185 | chr2:179640914;179640913;179640912 |
| N2A | 1893 | 5902;5903;5904 | chr2:178776187;178776186;178776185 | chr2:179640914;179640913;179640912 |
| N2B | 1847 | 5764;5765;5766 | chr2:178776187;178776186;178776185 | chr2:179640914;179640913;179640912 |
| Novex-1 | 1847 | 5764;5765;5766 | chr2:178776187;178776186;178776185 | chr2:179640914;179640913;179640912 |
| Novex-2 | 1847 | 5764;5765;5766 | chr2:178776187;178776186;178776185 | chr2:179640914;179640913;179640912 |
| Novex-3 | 1893 | 5902;5903;5904 | chr2:178776187;178776186;178776185 | chr2:179640914;179640913;179640912 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.554 | 0.539 | 0.330069100803 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79863E-06 | 0 | 0 |
| G/D | None | None | 1.0 | N | 0.592 | 0.613 | 0.344710718752 | gnomAD-4.0.0 | 2.05223E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69794E-06 | 0 | 0 |
| G/S | rs1380250256  |
-0.397 | 1.0 | D | 0.621 | 0.619 | 0.328222422547 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | I | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1380250256 |
-0.397 | 1.0 | D | 0.621 | 0.619 | 0.328222422547 | gnomAD-4.0.0 | 1.36815E-06 | None | None | None | None | I | None | 0 | 2.23594E-05 | None | 0 | 0 | None | 0 | 0 | 8.99311E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7913 | likely_pathogenic | 0.7891 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.554 | neutral | D | 0.554205536 | None | None | I |
| G/C | 0.9393 | likely_pathogenic | 0.9449 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.65 | neutral | D | 0.67702976 | None | None | I |
| G/D | 0.9263 | likely_pathogenic | 0.9179 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.592 | neutral | N | 0.481116494 | None | None | I |
| G/E | 0.9574 | likely_pathogenic | 0.9515 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| G/F | 0.9914 | likely_pathogenic | 0.9909 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| G/H | 0.9693 | likely_pathogenic | 0.9661 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.605 | neutral | None | None | None | None | I |
| G/I | 0.9846 | likely_pathogenic | 0.9842 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| G/K | 0.9832 | likely_pathogenic | 0.9801 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| G/L | 0.9825 | likely_pathogenic | 0.9812 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | I |
| G/M | 0.9833 | likely_pathogenic | 0.9826 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | I |
| G/N | 0.8543 | likely_pathogenic | 0.8413 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | I |
| G/P | 0.9983 | likely_pathogenic | 0.9984 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
| G/Q | 0.9468 | likely_pathogenic | 0.9404 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | I |
| G/R | 0.9595 | likely_pathogenic | 0.9511 | pathogenic | -0.761 | Destabilizing | 1.0 | D | 0.618 | neutral | D | 0.554864837 | None | None | I |
| G/S | 0.4931 | ambiguous | 0.4724 | ambiguous | -0.928 | Destabilizing | 1.0 | D | 0.621 | neutral | D | 0.536568732 | None | None | I |
| G/T | 0.9021 | likely_pathogenic | 0.8997 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| G/V | 0.9726 | likely_pathogenic | 0.9722 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.655 | neutral | D | 0.639491735 | None | None | I |
| G/W | 0.9882 | likely_pathogenic | 0.9873 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | I |
| G/Y | 0.9837 | likely_pathogenic | 0.9833 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.63 | neutral | 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.