Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13766 | 41521;41522;41523 | chr2:178636431;178636430;178636429 | chr2:179501158;179501157;179501156 |
| N2AB | 12125 | 36598;36599;36600 | chr2:178636431;178636430;178636429 | chr2:179501158;179501157;179501156 |
| N2A | 11198 | 33817;33818;33819 | chr2:178636431;178636430;178636429 | chr2:179501158;179501157;179501156 |
| N2B | 4701 | 14326;14327;14328 | chr2:178636431;178636430;178636429 | chr2:179501158;179501157;179501156 |
| Novex-1 | 4826 | 14701;14702;14703 | chr2:178636431;178636430;178636429 | chr2:179501158;179501157;179501156 |
| Novex-2 | 4893 | 14902;14903;14904 | chr2:178636431;178636430;178636429 | chr2:179501158;179501157;179501156 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs575272939  |
-0.87 | 0.999 | N | 0.525 | 0.31 | 0.315609569513 | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.65442E-04 | None | 0 | 0 | 0 |
| E/D | rs575272939 |
-0.87 | 0.999 | N | 0.525 | 0.31 | 0.315609569513 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13736E-04 | 0 |
| E/D | rs575272939 |
-0.87 | 0.999 | N | 0.525 | 0.31 | 0.315609569513 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| E/D | rs575272939 |
-0.87 | 0.999 | N | 0.525 | 0.31 | 0.315609569513 | gnomAD-4.0.0 | 2.35862E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.96913E-04 | 3.20852E-05 |
| E/K | None | None | 0.999 | N | 0.689 | 0.419 | 0.541194085853 | gnomAD-4.0.0 | 3.42741E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.50322E-06 | 0 | 0 |
| E/Q | rs867849913 |
-0.309 | 1.0 | N | 0.669 | 0.367 | 0.441017621159 | gnomAD-2.1.1 | 8.11E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.12638E-04 | None | 0 | None | 0 | 0 | 0 |
| E/Q | rs867849913 |
-0.309 | 1.0 | N | 0.669 | 0.367 | 0.441017621159 | gnomAD-4.0.0 | 2.05645E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.06252E-05 | None | 0 | 0 | 9.00645E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7601 | likely_pathogenic | 0.7973 | pathogenic | -0.634 | Destabilizing | 0.999 | D | 0.707 | prob.neutral | N | 0.514908504 | None | None | N |
| E/C | 0.996 | likely_pathogenic | 0.996 | pathogenic | -0.239 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/D | 0.7019 | likely_pathogenic | 0.745 | pathogenic | -0.629 | Destabilizing | 0.999 | D | 0.525 | neutral | N | 0.5088542 | None | None | N |
| E/F | 0.9922 | likely_pathogenic | 0.9933 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| E/G | 0.8588 | likely_pathogenic | 0.8874 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.520771834 | None | None | N |
| E/H | 0.9794 | likely_pathogenic | 0.9826 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| E/I | 0.897 | likely_pathogenic | 0.9055 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| E/K | 0.8845 | likely_pathogenic | 0.9088 | pathogenic | -0.013 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | N | 0.506132095 | None | None | N |
| E/L | 0.9469 | likely_pathogenic | 0.9531 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| E/M | 0.9335 | likely_pathogenic | 0.9419 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/N | 0.9272 | likely_pathogenic | 0.9415 | pathogenic | -0.409 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| E/P | 0.9962 | likely_pathogenic | 0.997 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/Q | 0.6297 | likely_pathogenic | 0.6768 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.511214751 | None | None | N |
| E/R | 0.9444 | likely_pathogenic | 0.9551 | pathogenic | 0.242 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| E/S | 0.8327 | likely_pathogenic | 0.8654 | pathogenic | -0.588 | Destabilizing | 0.999 | D | 0.694 | prob.neutral | None | None | None | None | N |
| E/T | 0.8067 | likely_pathogenic | 0.8433 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| E/V | 0.7288 | likely_pathogenic | 0.7579 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.507848202 | None | None | N |
| E/W | 0.9972 | likely_pathogenic | 0.9977 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| E/Y | 0.9855 | likely_pathogenic | 0.9875 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.807 | 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.