Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15111 | 45556;45557;45558 | chr2:178621493;178621492;178621491 | chr2:179486220;179486219;179486218 |
| N2AB | 13470 | 40633;40634;40635 | chr2:178621493;178621492;178621491 | chr2:179486220;179486219;179486218 |
| N2A | 12543 | 37852;37853;37854 | chr2:178621493;178621492;178621491 | chr2:179486220;179486219;179486218 |
| N2B | 6046 | 18361;18362;18363 | chr2:178621493;178621492;178621491 | chr2:179486220;179486219;179486218 |
| Novex-1 | 6171 | 18736;18737;18738 | chr2:178621493;178621492;178621491 | chr2:179486220;179486219;179486218 |
| Novex-2 | 6238 | 18937;18938;18939 | chr2:178621493;178621492;178621491 | chr2:179486220;179486219;179486218 |
| 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/D | rs1411341160  |
-1.636 | 0.709 | N | 0.755 | 0.225 | 0.307966526162 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1411341160 |
-1.636 | 0.709 | N | 0.755 | 0.225 | 0.307966526162 | gnomAD-4.0.0 | 6.58493E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47228E-05 | 0 | 0 |
| G/S | None | None | 0.004 | N | 0.381 | 0.104 | 0.202086224978 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 6.17284E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1497 | likely_benign | 0.1692 | benign | -0.84 | Destabilizing | 0.004 | N | 0.385 | neutral | N | 0.337374978 | None | None | N |
| G/C | 0.4148 | ambiguous | 0.491 | ambiguous | -1.288 | Destabilizing | 0.974 | D | 0.857 | deleterious | N | 0.487866329 | None | None | N |
| G/D | 0.9645 | likely_pathogenic | 0.9457 | pathogenic | -2.167 | Highly Destabilizing | 0.709 | D | 0.755 | deleterious | N | 0.497280184 | None | None | N |
| G/E | 0.9579 | likely_pathogenic | 0.9292 | pathogenic | -2.143 | Highly Destabilizing | 0.764 | D | 0.768 | deleterious | None | None | None | None | N |
| G/F | 0.9576 | likely_pathogenic | 0.9551 | pathogenic | -1.079 | Destabilizing | 0.98 | D | 0.857 | deleterious | None | None | None | None | N |
| G/H | 0.9724 | likely_pathogenic | 0.9683 | pathogenic | -1.643 | Destabilizing | 0.98 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.8107 | likely_pathogenic | 0.7493 | pathogenic | -0.193 | Destabilizing | 0.866 | D | 0.853 | deleterious | None | None | None | None | N |
| G/K | 0.9812 | likely_pathogenic | 0.9647 | pathogenic | -1.35 | Destabilizing | 0.764 | D | 0.775 | deleterious | None | None | None | None | N |
| G/L | 0.8779 | likely_pathogenic | 0.8486 | pathogenic | -0.193 | Destabilizing | 0.764 | D | 0.801 | deleterious | None | None | None | None | N |
| G/M | 0.9023 | likely_pathogenic | 0.8792 | pathogenic | -0.244 | Destabilizing | 0.993 | D | 0.859 | deleterious | None | None | None | None | N |
| G/N | 0.9294 | likely_pathogenic | 0.9185 | pathogenic | -1.303 | Destabilizing | 0.764 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/P | 0.9959 | likely_pathogenic | 0.9958 | pathogenic | -0.367 | Destabilizing | 0.866 | D | 0.813 | deleterious | None | None | None | None | N |
| G/Q | 0.9471 | likely_pathogenic | 0.9268 | pathogenic | -1.401 | Destabilizing | 0.866 | D | 0.843 | deleterious | None | None | None | None | N |
| G/R | 0.9402 | likely_pathogenic | 0.9021 | pathogenic | -1.152 | Destabilizing | 0.83 | D | 0.823 | deleterious | D | 0.532905459 | None | None | N |
| G/S | 0.2454 | likely_benign | 0.2711 | benign | -1.549 | Destabilizing | 0.004 | N | 0.381 | neutral | N | 0.476190784 | None | None | N |
| G/T | 0.5413 | ambiguous | 0.5463 | ambiguous | -1.442 | Destabilizing | 0.764 | D | 0.745 | deleterious | None | None | None | None | N |
| G/V | 0.6454 | likely_pathogenic | 0.5867 | pathogenic | -0.367 | Destabilizing | 0.709 | D | 0.807 | deleterious | N | 0.494612018 | None | None | N |
| G/W | 0.9592 | likely_pathogenic | 0.9502 | pathogenic | -1.625 | Destabilizing | 0.993 | D | 0.822 | deleterious | None | None | None | None | N |
| G/Y | 0.9559 | likely_pathogenic | 0.9498 | pathogenic | -1.145 | Destabilizing | 0.98 | D | 0.862 | deleterious | 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.