Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19924 | 59995;59996;59997 | chr2:178592134;178592133;178592132 | chr2:179456861;179456860;179456859 |
| N2AB | 18283 | 55072;55073;55074 | chr2:178592134;178592133;178592132 | chr2:179456861;179456860;179456859 |
| N2A | 17356 | 52291;52292;52293 | chr2:178592134;178592133;178592132 | chr2:179456861;179456860;179456859 |
| N2B | 10859 | 32800;32801;32802 | chr2:178592134;178592133;178592132 | chr2:179456861;179456860;179456859 |
| Novex-1 | 10984 | 33175;33176;33177 | chr2:178592134;178592133;178592132 | chr2:179456861;179456860;179456859 |
| Novex-2 | 11051 | 33376;33377;33378 | chr2:178592134;178592133;178592132 | chr2:179456861;179456860;179456859 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | None | None | 1.0 | D | 0.729 | 0.66 | 0.717762226416 | gnomAD-4.0.0 | 6.84538E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99667E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9855 | likely_pathogenic | 0.9848 | pathogenic | -3.005 | Highly Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| W/C | 0.9928 | likely_pathogenic | 0.9938 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.672 | neutral | N | 0.505174666 | None | None | N |
| W/D | 0.9935 | likely_pathogenic | 0.9936 | pathogenic | -2.54 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| W/E | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -2.448 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/F | 0.5448 | ambiguous | 0.5648 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| W/G | 0.9581 | likely_pathogenic | 0.9552 | pathogenic | -3.205 | Highly Destabilizing | 1.0 | D | 0.654 | neutral | D | 0.528848328 | None | None | N |
| W/H | 0.9818 | likely_pathogenic | 0.9843 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| W/I | 0.9722 | likely_pathogenic | 0.9754 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/K | 0.9982 | likely_pathogenic | 0.9984 | pathogenic | -1.78 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/L | 0.9493 | likely_pathogenic | 0.953 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.654 | neutral | N | 0.521504494 | None | None | N |
| W/M | 0.9854 | likely_pathogenic | 0.9866 | pathogenic | -1.713 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/N | 0.9902 | likely_pathogenic | 0.9912 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/P | 0.9874 | likely_pathogenic | 0.9875 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9983 | likely_pathogenic | 0.9985 | pathogenic | -2.24 | Highly Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| W/R | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.529355307 | None | None | N |
| W/S | 0.9743 | likely_pathogenic | 0.9745 | pathogenic | -2.558 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.527327391 | None | None | N |
| W/T | 0.985 | likely_pathogenic | 0.9867 | pathogenic | -2.412 | Highly Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/V | 0.9717 | likely_pathogenic | 0.9746 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/Y | 0.6549 | likely_pathogenic | 0.6927 | pathogenic | -1.516 | Destabilizing | 1.0 | D | 0.649 | 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.