Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22673 | 68242;68243;68244 | chr2:178579013;178579012;178579011 | chr2:179443740;179443739;179443738 |
| N2AB | 21032 | 63319;63320;63321 | chr2:178579013;178579012;178579011 | chr2:179443740;179443739;179443738 |
| N2A | 20105 | 60538;60539;60540 | chr2:178579013;178579012;178579011 | chr2:179443740;179443739;179443738 |
| N2B | 13608 | 41047;41048;41049 | chr2:178579013;178579012;178579011 | chr2:179443740;179443739;179443738 |
| Novex-1 | 13733 | 41422;41423;41424 | chr2:178579013;178579012;178579011 | chr2:179443740;179443739;179443738 |
| Novex-2 | 13800 | 41623;41624;41625 | chr2:178579013;178579012;178579011 | chr2:179443740;179443739;179443738 |
| 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/S | rs371738759  |
-0.21 | 1.0 | N | 0.701 | 0.487 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs371738759 |
-0.21 | 1.0 | N | 0.701 | 0.487 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs371738759 |
-0.21 | 1.0 | N | 0.701 | 0.487 | None | gnomAD-4.0.0 | 6.57791E-06 | None | None | None | None | I | None | 2.41418E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.794 | 0.561 | 0.830948855145 | gnomAD-4.0.0 | 2.05332E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69898E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8581 | likely_pathogenic | 0.8623 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.492656726 | None | None | I |
| G/C | 0.9113 | likely_pathogenic | 0.907 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.522423682 | None | None | I |
| G/D | 0.9437 | likely_pathogenic | 0.9494 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.505280479 | None | None | I |
| G/E | 0.9699 | likely_pathogenic | 0.9694 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/F | 0.9812 | likely_pathogenic | 0.9786 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/H | 0.98 | likely_pathogenic | 0.9797 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/I | 0.9765 | likely_pathogenic | 0.9743 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/K | 0.9849 | likely_pathogenic | 0.9837 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/L | 0.969 | likely_pathogenic | 0.967 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/M | 0.9807 | likely_pathogenic | 0.9796 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/N | 0.9415 | likely_pathogenic | 0.9393 | pathogenic | -0.203 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/P | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Q | 0.9661 | likely_pathogenic | 0.9634 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/R | 0.9583 | likely_pathogenic | 0.9555 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.793 | deleterious | N | 0.495165168 | None | None | I |
| G/S | 0.7121 | likely_pathogenic | 0.7222 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.497478891 | None | None | I |
| G/T | 0.942 | likely_pathogenic | 0.945 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/V | 0.9641 | likely_pathogenic | 0.9618 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.528157674 | None | None | I |
| G/W | 0.9787 | likely_pathogenic | 0.975 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/Y | 0.9755 | likely_pathogenic | 0.9721 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.772 | 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.