Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16712 | 50359;50360;50361 | chr2:178612391;178612390;178612389 | chr2:179477118;179477117;179477116 |
| N2AB | 15071 | 45436;45437;45438 | chr2:178612391;178612390;178612389 | chr2:179477118;179477117;179477116 |
| N2A | 14144 | 42655;42656;42657 | chr2:178612391;178612390;178612389 | chr2:179477118;179477117;179477116 |
| N2B | 7647 | 23164;23165;23166 | chr2:178612391;178612390;178612389 | chr2:179477118;179477117;179477116 |
| Novex-1 | 7772 | 23539;23540;23541 | chr2:178612391;178612390;178612389 | chr2:179477118;179477117;179477116 |
| Novex-2 | 7839 | 23740;23741;23742 | chr2:178612391;178612390;178612389 | chr2:179477118;179477117;179477116 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | None | None | 1.0 | D | 0.84 | 0.687 | 0.847127511703 | gnomAD-4.0.0 | 6.84701E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9986E-07 | 0 | 0 |
| V/G | rs1314552701  |
-3.055 | 1.0 | D | 0.848 | 0.672 | 0.905301469533 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | rs1314552701 |
-3.055 | 1.0 | D | 0.848 | 0.672 | 0.905301469533 | gnomAD-4.0.0 | 4.1082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.95781E-05 | 0 |
| V/I | None | None | 0.997 | N | 0.547 | 0.253 | 0.453772157364 | gnomAD-4.0.0 | 6.84696E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53537E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs2056497488 |
None | 0.997 | N | 0.666 | 0.31 | 0.370424759081 | gnomAD-4.0.0 | 6.84696E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15964E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8328 | likely_pathogenic | 0.8614 | pathogenic | -1.974 | Destabilizing | 0.999 | D | 0.661 | neutral | N | 0.510082812 | None | None | N |
| V/C | 0.9629 | likely_pathogenic | 0.9738 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| V/D | 0.9983 | likely_pathogenic | 0.9993 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.608442242 | None | None | N |
| V/E | 0.9921 | likely_pathogenic | 0.9955 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/F | 0.8672 | likely_pathogenic | 0.9113 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.627720879 | None | None | N |
| V/G | 0.968 | likely_pathogenic | 0.98 | pathogenic | -2.495 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.727969198 | None | None | N |
| V/H | 0.9973 | likely_pathogenic | 0.9987 | pathogenic | -2.271 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/I | 0.13 | likely_benign | 0.1251 | benign | -0.546 | Destabilizing | 0.997 | D | 0.547 | neutral | N | 0.48363891 | None | None | N |
| V/K | 0.9944 | likely_pathogenic | 0.9974 | pathogenic | -1.679 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| V/L | 0.7603 | likely_pathogenic | 0.793 | pathogenic | -0.546 | Destabilizing | 0.997 | D | 0.666 | neutral | N | 0.502068465 | None | None | N |
| V/M | 0.7937 | likely_pathogenic | 0.8153 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| V/N | 0.9933 | likely_pathogenic | 0.9967 | pathogenic | -1.872 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/P | 0.9922 | likely_pathogenic | 0.9959 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/Q | 0.99 | likely_pathogenic | 0.9947 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| V/R | 0.9903 | likely_pathogenic | 0.9952 | pathogenic | -1.472 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| V/S | 0.9694 | likely_pathogenic | 0.9815 | pathogenic | -2.508 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| V/T | 0.903 | likely_pathogenic | 0.9287 | pathogenic | -2.18 | Highly Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| V/W | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -1.745 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| V/Y | 0.9898 | likely_pathogenic | 0.9943 | pathogenic | -1.358 | Destabilizing | 1.0 | D | 0.802 | 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.