Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2773 | 8542;8543;8544 | chr2:178770475;178770474;178770473 | chr2:179635202;179635201;179635200 |
| N2AB | 2773 | 8542;8543;8544 | chr2:178770475;178770474;178770473 | chr2:179635202;179635201;179635200 |
| N2A | 2773 | 8542;8543;8544 | chr2:178770475;178770474;178770473 | chr2:179635202;179635201;179635200 |
| N2B | 2727 | 8404;8405;8406 | chr2:178770475;178770474;178770473 | chr2:179635202;179635201;179635200 |
| Novex-1 | 2727 | 8404;8405;8406 | chr2:178770475;178770474;178770473 | chr2:179635202;179635201;179635200 |
| Novex-2 | 2727 | 8404;8405;8406 | chr2:178770475;178770474;178770473 | chr2:179635202;179635201;179635200 |
| Novex-3 | 2773 | 8542;8543;8544 | chr2:178770475;178770474;178770473 | chr2:179635202;179635201;179635200 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1364502747  |
-0.559 | 1.0 | D | 0.559 | 0.739 | 0.506006782367 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/E | rs1364502747 |
-0.559 | 1.0 | D | 0.559 | 0.739 | 0.506006782367 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/E | rs1364502747 |
-0.559 | 1.0 | D | 0.559 | 0.739 | 0.506006782367 | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46959E-05 | 0 | 0 |
| D/G | None | None | 1.0 | D | 0.767 | 0.931 | 0.65076212359 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | rs1455641988 |
-0.933 | 1.0 | D | 0.774 | 0.67 | 0.612615269616 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.77E-05 | 1.63185E-04 |
| D/N | rs1455641988 |
-0.933 | 1.0 | D | 0.774 | 0.67 | 0.612615269616 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1455641988 |
-0.933 | 1.0 | D | 0.774 | 0.67 | 0.612615269616 | gnomAD-4.0.0 | 6.40279E-06 | None | None | None | None | N | None | 0 | 1.6948E-05 | None | 0 | 0 | None | 0 | 2.24014E-04 | 0 | 0 | 8.52563E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9407 | likely_pathogenic | 0.9463 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.725630056 | None | None | N |
| D/C | 0.9895 | likely_pathogenic | 0.9911 | pathogenic | -0.087 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/E | 0.8249 | likely_pathogenic | 0.8496 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.559 | neutral | D | 0.669082001 | None | None | N |
| D/F | 0.993 | likely_pathogenic | 0.9925 | pathogenic | 0.382 | Stabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/G | 0.9483 | likely_pathogenic | 0.954 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.724887501 | None | None | N |
| D/H | 0.9591 | likely_pathogenic | 0.9521 | pathogenic | 0.107 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.688392955 | None | None | N |
| D/I | 0.9925 | likely_pathogenic | 0.9931 | pathogenic | 0.81 | Stabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| D/K | 0.9915 | likely_pathogenic | 0.9916 | pathogenic | -0.133 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| D/L | 0.9846 | likely_pathogenic | 0.9848 | pathogenic | 0.81 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/M | 0.992 | likely_pathogenic | 0.9917 | pathogenic | 1.142 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| D/N | 0.7868 | likely_pathogenic | 0.7977 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.727105113 | None | None | N |
| D/P | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | 0.493 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/Q | 0.9701 | likely_pathogenic | 0.9722 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| D/R | 0.992 | likely_pathogenic | 0.9925 | pathogenic | 0.045 | Stabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| D/S | 0.8753 | likely_pathogenic | 0.8834 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| D/T | 0.9698 | likely_pathogenic | 0.971 | pathogenic | -0.652 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/V | 0.9738 | likely_pathogenic | 0.9758 | pathogenic | 0.493 | Stabilizing | 1.0 | D | 0.851 | deleterious | D | 0.7248914 | None | None | N |
| D/W | 0.9983 | likely_pathogenic | 0.9981 | pathogenic | 0.563 | Stabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| D/Y | 0.9635 | likely_pathogenic | 0.9595 | pathogenic | 0.637 | Stabilizing | 1.0 | D | 0.856 | deleterious | D | 0.724969773 | 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.