Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34163 | 102712;102713;102714 | chr2:178534128;178534127;178534126 | chr2:179398855;179398854;179398853 |
| N2AB | 32522 | 97789;97790;97791 | chr2:178534128;178534127;178534126 | chr2:179398855;179398854;179398853 |
| N2A | 31595 | 95008;95009;95010 | chr2:178534128;178534127;178534126 | chr2:179398855;179398854;179398853 |
| N2B | 25098 | 75517;75518;75519 | chr2:178534128;178534127;178534126 | chr2:179398855;179398854;179398853 |
| Novex-1 | 25223 | 75892;75893;75894 | chr2:178534128;178534127;178534126 | chr2:179398855;179398854;179398853 |
| Novex-2 | 25290 | 76093;76094;76095 | chr2:178534128;178534127;178534126 | chr2:179398855;179398854;179398853 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | 1.0 | N | 0.595 | 0.513 | 0.244539031024 | gnomAD-4.0.0 | 6.84158E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99415E-07 | 0 | 0 |
| D/N | rs750297489  |
-0.664 | 1.0 | N | 0.621 | 0.337 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs750297489 |
-0.664 | 1.0 | N | 0.621 | 0.337 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs750297489 |
-0.664 | 1.0 | N | 0.621 | 0.337 | None | gnomAD-4.0.0 | 3.71792E-06 | None | None | None | None | N | None | 4.0047E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54267E-06 | 0 | 0 |
| D/Y | rs750297489 |
-0.341 | 1.0 | N | 0.758 | 0.57 | 0.239305524855 | 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 |
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 | 0.7979 | likely_pathogenic | 0.6848 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.647 | neutral | N | 0.461475331 | None | None | N |
| D/C | 0.9601 | likely_pathogenic | 0.9412 | pathogenic | -0.144 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/E | 0.7471 | likely_pathogenic | 0.6669 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.443 | neutral | N | 0.477698467 | None | None | N |
| D/F | 0.9757 | likely_pathogenic | 0.9533 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| D/G | 0.6817 | likely_pathogenic | 0.5802 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.595 | neutral | N | 0.46198231 | None | None | N |
| D/H | 0.8284 | likely_pathogenic | 0.7134 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.675 | neutral | N | 0.451221889 | None | None | N |
| D/I | 0.9506 | likely_pathogenic | 0.9057 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/K | 0.9194 | likely_pathogenic | 0.8361 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| D/L | 0.8803 | likely_pathogenic | 0.807 | pathogenic | 0.179 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| D/M | 0.9767 | likely_pathogenic | 0.9603 | pathogenic | 0.645 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/N | 0.2832 | likely_benign | 0.2443 | benign | -0.659 | Destabilizing | 1.0 | D | 0.621 | neutral | N | 0.46198231 | None | None | N |
| D/P | 0.9658 | likely_pathogenic | 0.9517 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| D/Q | 0.8805 | likely_pathogenic | 0.8079 | pathogenic | -0.552 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| D/R | 0.9084 | likely_pathogenic | 0.8249 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| D/S | 0.4 | ambiguous | 0.3231 | benign | -0.838 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| D/T | 0.7526 | likely_pathogenic | 0.6723 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.632 | neutral | None | None | None | None | N |
| D/V | 0.8816 | likely_pathogenic | 0.7879 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.46198231 | None | None | N |
| D/W | 0.9958 | likely_pathogenic | 0.9912 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| D/Y | 0.8654 | likely_pathogenic | 0.7512 | pathogenic | -0.258 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.462489289 | 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.