Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23798 | 71617;71618;71619 | chr2:178574740;178574739;178574738 | chr2:179439467;179439466;179439465 |
| N2AB | 22157 | 66694;66695;66696 | chr2:178574740;178574739;178574738 | chr2:179439467;179439466;179439465 |
| N2A | 21230 | 63913;63914;63915 | chr2:178574740;178574739;178574738 | chr2:179439467;179439466;179439465 |
| N2B | 14733 | 44422;44423;44424 | chr2:178574740;178574739;178574738 | chr2:179439467;179439466;179439465 |
| Novex-1 | 14858 | 44797;44798;44799 | chr2:178574740;178574739;178574738 | chr2:179439467;179439466;179439465 |
| Novex-2 | 14925 | 44998;44999;45000 | chr2:178574740;178574739;178574738 | chr2:179439467;179439466;179439465 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/H | None | None | 0.999 | N | 0.599 | 0.329 | 0.223146558224 | gnomAD-4.0.0 | 1.5929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41546E-04 | 0 | 0 | 0 |
| Q/P | None | None | 0.999 | N | 0.645 | 0.451 | 0.555595671355 | gnomAD-4.0.0 | 1.59297E-06 | None | None | None | None | N | None | 0 | 2.28927E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.5619 | ambiguous | 0.5558 | ambiguous | -1.646 | Destabilizing | 0.964 | D | 0.607 | neutral | None | None | None | None | N |
| Q/C | 0.7935 | likely_pathogenic | 0.7913 | pathogenic | -0.973 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| Q/D | 0.9615 | likely_pathogenic | 0.9541 | pathogenic | -2.278 | Highly Destabilizing | 0.998 | D | 0.576 | neutral | None | None | None | None | N |
| Q/E | 0.1988 | likely_benign | 0.201 | benign | -1.958 | Destabilizing | 0.992 | D | 0.62 | neutral | N | 0.465356393 | None | None | N |
| Q/F | 0.9295 | likely_pathogenic | 0.9236 | pathogenic | -1.052 | Destabilizing | 0.998 | D | 0.786 | deleterious | None | None | None | None | N |
| Q/G | 0.7947 | likely_pathogenic | 0.7769 | pathogenic | -2.079 | Highly Destabilizing | 0.998 | D | 0.653 | neutral | None | None | None | None | N |
| Q/H | 0.7021 | likely_pathogenic | 0.6793 | pathogenic | -1.502 | Destabilizing | 0.999 | D | 0.599 | neutral | N | 0.520828461 | None | None | N |
| Q/I | 0.5085 | ambiguous | 0.5148 | ambiguous | -0.438 | Destabilizing | 0.971 | D | 0.691 | prob.neutral | None | None | None | None | N |
| Q/K | 0.4818 | ambiguous | 0.4582 | ambiguous | -0.693 | Destabilizing | 0.997 | D | 0.624 | neutral | N | 0.488734685 | None | None | N |
| Q/L | 0.387 | ambiguous | 0.3982 | ambiguous | -0.438 | Destabilizing | 0.961 | D | 0.651 | neutral | N | 0.501434623 | None | None | N |
| Q/M | 0.4814 | ambiguous | 0.5042 | ambiguous | -0.347 | Destabilizing | 0.998 | D | 0.592 | neutral | None | None | None | None | N |
| Q/N | 0.8027 | likely_pathogenic | 0.7919 | pathogenic | -1.524 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| Q/P | 0.9914 | likely_pathogenic | 0.9889 | pathogenic | -0.82 | Destabilizing | 0.999 | D | 0.645 | neutral | N | 0.510085737 | None | None | N |
| Q/R | 0.4557 | ambiguous | 0.4306 | ambiguous | -0.877 | Destabilizing | 0.997 | D | 0.597 | neutral | N | 0.492583067 | None | None | N |
| Q/S | 0.576 | likely_pathogenic | 0.56 | ambiguous | -1.864 | Destabilizing | 0.993 | D | 0.564 | neutral | None | None | None | None | N |
| Q/T | 0.4402 | ambiguous | 0.4258 | ambiguous | -1.37 | Destabilizing | 0.985 | D | 0.591 | neutral | None | None | None | None | N |
| Q/V | 0.3873 | ambiguous | 0.3959 | ambiguous | -0.82 | Destabilizing | 0.469 | N | 0.551 | neutral | None | None | None | None | N |
| Q/W | 0.9611 | likely_pathogenic | 0.9555 | pathogenic | -1.115 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| Q/Y | 0.8686 | likely_pathogenic | 0.8593 | pathogenic | -0.753 | Destabilizing | 0.999 | D | 0.669 | 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.