Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30766 | 92521;92522;92523 | chr2:178549330;178549329;178549328 | chr2:179414057;179414056;179414055 |
| N2AB | 29125 | 87598;87599;87600 | chr2:178549330;178549329;178549328 | chr2:179414057;179414056;179414055 |
| N2A | 28198 | 84817;84818;84819 | chr2:178549330;178549329;178549328 | chr2:179414057;179414056;179414055 |
| N2B | 21701 | 65326;65327;65328 | chr2:178549330;178549329;178549328 | chr2:179414057;179414056;179414055 |
| Novex-1 | 21826 | 65701;65702;65703 | chr2:178549330;178549329;178549328 | chr2:179414057;179414056;179414055 |
| Novex-2 | 21893 | 65902;65903;65904 | chr2:178549330;178549329;178549328 | chr2:179414057;179414056;179414055 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs780067852  |
-1.113 | 1.0 | D | 0.819 | 0.611 | 0.79196685525 | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | N | None | 0 | 2.60809E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 0 |
| W/R | rs780067852 |
-1.113 | 1.0 | D | 0.819 | 0.611 | 0.79196685525 | gnomAD-4.0.0 | 2.94196E-05 | None | None | None | None | N | None | 0 | 2.23604E-04 | None | 0 | 0 | None | 0 | 0 | 2.78827E-05 | 0 | 3.3129E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9797 | likely_pathogenic | 0.9749 | pathogenic | -3.249 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| W/C | 0.995 | likely_pathogenic | 0.993 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.538657243 | None | None | N |
| W/D | 0.9963 | likely_pathogenic | 0.9952 | pathogenic | -2.496 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| W/E | 0.9973 | likely_pathogenic | 0.9961 | pathogenic | -2.424 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/F | 0.6552 | likely_pathogenic | 0.6394 | pathogenic | -2.071 | Highly Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| W/G | 0.9526 | likely_pathogenic | 0.944 | pathogenic | -3.448 | Highly Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.537896774 | None | None | N |
| W/H | 0.9862 | likely_pathogenic | 0.9821 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| W/I | 0.9831 | likely_pathogenic | 0.9784 | pathogenic | -2.498 | Highly Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| W/K | 0.9972 | likely_pathogenic | 0.9963 | pathogenic | -1.93 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| W/L | 0.9442 | likely_pathogenic | 0.9288 | pathogenic | -2.498 | Highly Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.529285493 | None | None | N |
| W/M | 0.9805 | likely_pathogenic | 0.9746 | pathogenic | -1.868 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| W/N | 0.9947 | likely_pathogenic | 0.9929 | pathogenic | -2.35 | Highly Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| W/P | 0.9916 | likely_pathogenic | 0.9866 | pathogenic | -2.77 | Highly Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| W/Q | 0.9971 | likely_pathogenic | 0.9962 | pathogenic | -2.365 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| W/R | 0.9952 | likely_pathogenic | 0.9936 | pathogenic | -1.304 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.549164175 | None | None | N |
| W/S | 0.9729 | likely_pathogenic | 0.9665 | pathogenic | -2.699 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.523804991 | None | None | N |
| W/T | 0.9808 | likely_pathogenic | 0.9738 | pathogenic | -2.575 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| W/V | 0.9807 | likely_pathogenic | 0.974 | pathogenic | -2.77 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| W/Y | 0.8701 | likely_pathogenic | 0.8549 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.624 | 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.