Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9098 | 27517;27518;27519 | chr2:178712733;178712732;178712731 | chr2:179577460;179577459;179577458 |
| N2AB | 8781 | 26566;26567;26568 | chr2:178712733;178712732;178712731 | chr2:179577460;179577459;179577458 |
| N2A | 7854 | 23785;23786;23787 | chr2:178712733;178712732;178712731 | chr2:179577460;179577459;179577458 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | D | 0.739 | 0.765 | 0.553996833274 | gnomAD-4.0.0 | 6.8425E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99523E-07 | 0 | 0 |
| G/S | rs772115815  |
-0.365 | 1.0 | D | 0.79 | 0.82 | 0.585504228005 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.11284E-04 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs772115815 |
-0.365 | 1.0 | D | 0.79 | 0.82 | 0.585504228005 | gnomAD-4.0.0 | 3.18288E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77316E-05 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| G/V | None | None | 1.0 | D | 0.82 | 0.753 | 0.936918052032 | gnomAD-4.0.0 | 6.8425E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6451 | likely_pathogenic | 0.616 | pathogenic | -0.334 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.596889533 | None | None | I |
| G/C | 0.9033 | likely_pathogenic | 0.888 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.637800514 | None | None | I |
| G/D | 0.8162 | likely_pathogenic | 0.7886 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.614826932 | None | None | I |
| G/E | 0.8304 | likely_pathogenic | 0.8145 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/F | 0.977 | likely_pathogenic | 0.9714 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/H | 0.9493 | likely_pathogenic | 0.9398 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/I | 0.9718 | likely_pathogenic | 0.9678 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/K | 0.9196 | likely_pathogenic | 0.9142 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/L | 0.9537 | likely_pathogenic | 0.9453 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/M | 0.9655 | likely_pathogenic | 0.9592 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/N | 0.8816 | likely_pathogenic | 0.8582 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.8634 | likely_pathogenic | 0.8472 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/R | 0.8248 | likely_pathogenic | 0.807 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.620539967 | None | None | I |
| G/S | 0.4724 | ambiguous | 0.4359 | ambiguous | -0.595 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.603713389 | None | None | I |
| G/T | 0.8794 | likely_pathogenic | 0.8644 | pathogenic | -0.714 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/V | 0.9298 | likely_pathogenic | 0.922 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.653416267 | None | None | I |
| G/W | 0.9435 | likely_pathogenic | 0.9334 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/Y | 0.9584 | likely_pathogenic | 0.9477 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
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.