Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27356 | 82291;82292;82293 | chr2:178564066;178564065;178564064 | chr2:179428793;179428792;179428791 |
| N2AB | 25715 | 77368;77369;77370 | chr2:178564066;178564065;178564064 | chr2:179428793;179428792;179428791 |
| N2A | 24788 | 74587;74588;74589 | chr2:178564066;178564065;178564064 | chr2:179428793;179428792;179428791 |
| N2B | 18291 | 55096;55097;55098 | chr2:178564066;178564065;178564064 | chr2:179428793;179428792;179428791 |
| Novex-1 | 18416 | 55471;55472;55473 | chr2:178564066;178564065;178564064 | chr2:179428793;179428792;179428791 |
| Novex-2 | 18483 | 55672;55673;55674 | chr2:178564066;178564065;178564064 | chr2:179428793;179428792;179428791 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/V | rs757116538  |
0.013 | 1.0 | D | 0.832 | 0.642 | 0.867590122208 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/V | rs757116538 |
0.013 | 1.0 | D | 0.832 | 0.642 | 0.867590122208 | gnomAD-4.0.0 | 3.18257E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 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 | 0.7543 | likely_pathogenic | 0.8086 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.741 | deleterious | D | 0.584352642 | None | None | I |
| G/C | 0.89 | likely_pathogenic | 0.9221 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.62712094 | None | None | I |
| G/D | 0.9191 | likely_pathogenic | 0.9509 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.604147358 | None | None | I |
| G/E | 0.9495 | likely_pathogenic | 0.9694 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/F | 0.9813 | likely_pathogenic | 0.9861 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/H | 0.9773 | likely_pathogenic | 0.9845 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/I | 0.972 | likely_pathogenic | 0.98 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/K | 0.9739 | likely_pathogenic | 0.9822 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/L | 0.9751 | likely_pathogenic | 0.9818 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/M | 0.9755 | likely_pathogenic | 0.9817 | pathogenic | -0.487 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/N | 0.9208 | likely_pathogenic | 0.9438 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9993 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Q | 0.9509 | likely_pathogenic | 0.9651 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/R | 0.942 | likely_pathogenic | 0.9591 | pathogenic | -0.159 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.626111919 | None | None | I |
| G/S | 0.6133 | likely_pathogenic | 0.6901 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.587926193 | None | None | I |
| G/T | 0.9207 | likely_pathogenic | 0.9379 | pathogenic | -0.473 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/V | 0.9549 | likely_pathogenic | 0.9676 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.642736693 | None | None | I |
| G/W | 0.9747 | likely_pathogenic | 0.982 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/Y | 0.974 | likely_pathogenic | 0.9817 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.847 | 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.