Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27032 | 81319;81320;81321 | chr2:178565038;178565037;178565036 | chr2:179429765;179429764;179429763 |
| N2AB | 25391 | 76396;76397;76398 | chr2:178565038;178565037;178565036 | chr2:179429765;179429764;179429763 |
| N2A | 24464 | 73615;73616;73617 | chr2:178565038;178565037;178565036 | chr2:179429765;179429764;179429763 |
| N2B | 17967 | 54124;54125;54126 | chr2:178565038;178565037;178565036 | chr2:179429765;179429764;179429763 |
| Novex-1 | 18092 | 54499;54500;54501 | chr2:178565038;178565037;178565036 | chr2:179429765;179429764;179429763 |
| Novex-2 | 18159 | 54700;54701;54702 | chr2:178565038;178565037;178565036 | chr2:179429765;179429764;179429763 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/V | rs369908251  |
-0.691 | 0.426 | N | 0.443 | 0.116 | 0.497741790239 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| I/V | rs369908251 |
-0.691 | 0.426 | N | 0.443 | 0.116 | 0.497741790239 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.82E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/V | rs369908251 |
-0.691 | 0.426 | N | 0.443 | 0.116 | 0.497741790239 | gnomAD-4.0.0 | 2.66493E-05 | None | None | None | None | N | None | 2.40263E-04 | 0 | None | 0 | 0 | None | 0 | 1.64636E-04 | 1.8649E-05 | 0 | 3.20246E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.7273 | likely_pathogenic | 0.6567 | pathogenic | -1.751 | Destabilizing | 0.916 | D | 0.487 | neutral | None | None | None | None | N |
| I/C | 0.8071 | likely_pathogenic | 0.7237 | pathogenic | -1.248 | Destabilizing | 0.999 | D | 0.672 | neutral | None | None | None | None | N |
| I/D | 0.9914 | likely_pathogenic | 0.989 | pathogenic | -1.45 | Destabilizing | 0.996 | D | 0.78 | deleterious | None | None | None | None | N |
| I/E | 0.9757 | likely_pathogenic | 0.9715 | pathogenic | -1.274 | Destabilizing | 0.987 | D | 0.771 | deleterious | None | None | None | None | N |
| I/F | 0.3326 | likely_benign | 0.2931 | benign | -0.925 | Destabilizing | 0.967 | D | 0.55 | neutral | N | 0.40858039 | None | None | N |
| I/G | 0.9482 | likely_pathogenic | 0.9243 | pathogenic | -2.213 | Highly Destabilizing | 0.987 | D | 0.746 | deleterious | None | None | None | None | N |
| I/H | 0.9466 | likely_pathogenic | 0.9316 | pathogenic | -1.382 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | N |
| I/K | 0.9468 | likely_pathogenic | 0.9454 | pathogenic | -1.353 | Destabilizing | 0.987 | D | 0.751 | deleterious | None | None | None | None | N |
| I/L | 0.1255 | likely_benign | 0.1118 | benign | -0.466 | Destabilizing | 0.011 | N | 0.319 | neutral | N | 0.405905445 | None | None | N |
| I/M | 0.1156 | likely_benign | 0.1072 | benign | -0.499 | Destabilizing | 0.967 | D | 0.593 | neutral | N | 0.496700807 | None | None | N |
| I/N | 0.8626 | likely_pathogenic | 0.8364 | pathogenic | -1.687 | Destabilizing | 0.994 | D | 0.797 | deleterious | N | 0.493120344 | None | None | N |
| I/P | 0.9919 | likely_pathogenic | 0.9903 | pathogenic | -0.87 | Destabilizing | 0.996 | D | 0.795 | deleterious | None | None | None | None | N |
| I/Q | 0.9204 | likely_pathogenic | 0.9063 | pathogenic | -1.564 | Destabilizing | 0.996 | D | 0.793 | deleterious | None | None | None | None | N |
| I/R | 0.9181 | likely_pathogenic | 0.9149 | pathogenic | -1.061 | Destabilizing | 0.987 | D | 0.793 | deleterious | None | None | None | None | N |
| I/S | 0.8114 | likely_pathogenic | 0.7629 | pathogenic | -2.372 | Highly Destabilizing | 0.983 | D | 0.613 | neutral | N | 0.481092475 | None | None | N |
| I/T | 0.7328 | likely_pathogenic | 0.6878 | pathogenic | -2.045 | Highly Destabilizing | 0.967 | D | 0.615 | neutral | N | 0.481712712 | None | None | N |
| I/V | 0.1172 | likely_benign | 0.0962 | benign | -0.87 | Destabilizing | 0.426 | N | 0.443 | neutral | N | 0.434185337 | None | None | N |
| I/W | 0.9417 | likely_pathogenic | 0.9279 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.746 | deleterious | None | None | None | None | N |
| I/Y | 0.7931 | likely_pathogenic | 0.7576 | pathogenic | -0.853 | Destabilizing | 0.987 | D | 0.685 | prob.neutral | 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.