Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8836 | 26731;26732;26733 | chr2:178714152;178714151;178714150 | chr2:179578879;179578878;179578877 |
| N2AB | 8519 | 25780;25781;25782 | chr2:178714152;178714151;178714150 | chr2:179578879;179578878;179578877 |
| N2A | 7592 | 22999;23000;23001 | chr2:178714152;178714151;178714150 | chr2:179578879;179578878;179578877 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 0.467 | N | 0.614 | 0.307 | 0.506250668499 | gnomAD-4.0.0 | 1.08029E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18125E-05 | 0 | 0 |
| P/S | rs776799144  |
-1.515 | 1.0 | N | 0.783 | 0.434 | 0.333154297509 | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | N | None | 0 | 1.17261E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.67448E-04 |
| P/S | rs776799144 |
-1.515 | 1.0 | N | 0.783 | 0.434 | 0.333154297509 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 4.83E-05 | 3.93391E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| P/S | rs776799144 |
-1.515 | 1.0 | N | 0.783 | 0.434 | 0.333154297509 | gnomAD-4.0.0 | 1.36527E-05 | None | None | None | None | N | None | 4.01671E-05 | 2.34506E-04 | None | 0 | 0 | None | 0 | 0 | 8.48289E-07 | 0 | 6.41704E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.0912 | likely_benign | 0.0928 | benign | -1.514 | Destabilizing | 0.996 | D | 0.66 | neutral | N | 0.521367178 | None | None | N |
| P/C | 0.6753 | likely_pathogenic | 0.7041 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/D | 0.8944 | likely_pathogenic | 0.9211 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| P/E | 0.7232 | likely_pathogenic | 0.789 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/F | 0.7742 | likely_pathogenic | 0.8294 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/G | 0.5095 | ambiguous | 0.5162 | ambiguous | -1.851 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| P/H | 0.6842 | likely_pathogenic | 0.7642 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/I | 0.4172 | ambiguous | 0.4825 | ambiguous | -0.687 | Destabilizing | 0.996 | D | 0.856 | deleterious | None | None | None | None | N |
| P/K | 0.7905 | likely_pathogenic | 0.8542 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/L | 0.1516 | likely_benign | 0.1775 | benign | -0.687 | Destabilizing | 0.467 | N | 0.614 | neutral | N | 0.488019822 | None | None | N |
| P/M | 0.3678 | ambiguous | 0.413 | ambiguous | -0.531 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/N | 0.7662 | likely_pathogenic | 0.821 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| P/Q | 0.5485 | ambiguous | 0.6362 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.839 | deleterious | N | 0.518897601 | None | None | N |
| P/R | 0.6557 | likely_pathogenic | 0.7349 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.518644112 | None | None | N |
| P/S | 0.3156 | likely_benign | 0.3616 | ambiguous | -1.584 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.479548766 | None | None | N |
| P/T | 0.1598 | likely_benign | 0.1665 | benign | -1.458 | Destabilizing | 0.999 | D | 0.786 | deleterious | N | 0.471813312 | None | None | N |
| P/V | 0.2607 | likely_benign | 0.303 | benign | -0.928 | Destabilizing | 0.996 | D | 0.786 | deleterious | None | None | None | None | N |
| P/W | 0.889 | likely_pathogenic | 0.9288 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/Y | 0.804 | likely_pathogenic | 0.8576 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.893 | 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.