Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18614 | 56065;56066;56067 | chr2:178601064;178601063;178601062 | chr2:179465791;179465790;179465789 |
| N2AB | 16973 | 51142;51143;51144 | chr2:178601064;178601063;178601062 | chr2:179465791;179465790;179465789 |
| N2A | 16046 | 48361;48362;48363 | chr2:178601064;178601063;178601062 | chr2:179465791;179465790;179465789 |
| N2B | 9549 | 28870;28871;28872 | chr2:178601064;178601063;178601062 | chr2:179465791;179465790;179465789 |
| Novex-1 | 9674 | 29245;29246;29247 | chr2:178601064;178601063;178601062 | chr2:179465791;179465790;179465789 |
| Novex-2 | 9741 | 29446;29447;29448 | chr2:178601064;178601063;178601062 | chr2:179465791;179465790;179465789 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | None | None | 1.0 | D | 0.859 | 0.905 | 0.872192788024 | gnomAD-4.0.0 | 1.59422E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86369E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9972 | likely_pathogenic | 0.9965 | pathogenic | -3.794 | Highly Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| Y/C | 0.9403 | likely_pathogenic | 0.9213 | pathogenic | -2.209 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.64840506 | None | None | N |
| Y/D | 0.9961 | likely_pathogenic | 0.9956 | pathogenic | -3.913 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.648606864 | None | None | N |
| Y/E | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -3.729 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/F | 0.376 | ambiguous | 0.3422 | ambiguous | -1.795 | Destabilizing | 0.999 | D | 0.654 | neutral | D | 0.57413284 | None | None | N |
| Y/G | 0.9881 | likely_pathogenic | 0.9874 | pathogenic | -4.128 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| Y/H | 0.9777 | likely_pathogenic | 0.9757 | pathogenic | -2.84 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.63198209 | None | None | N |
| Y/I | 0.9884 | likely_pathogenic | 0.9842 | pathogenic | -2.635 | Highly Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| Y/K | 0.9987 | likely_pathogenic | 0.9987 | pathogenic | -2.897 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| Y/L | 0.9615 | likely_pathogenic | 0.9522 | pathogenic | -2.635 | Highly Destabilizing | 0.999 | D | 0.739 | prob.delet. | None | None | None | None | N |
| Y/M | 0.991 | likely_pathogenic | 0.989 | pathogenic | -2.289 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| Y/N | 0.9761 | likely_pathogenic | 0.9771 | pathogenic | -3.573 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.64840506 | None | None | N |
| Y/P | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| Y/Q | 0.9982 | likely_pathogenic | 0.998 | pathogenic | -3.361 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| Y/R | 0.9931 | likely_pathogenic | 0.9928 | pathogenic | -2.54 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/S | 0.9858 | likely_pathogenic | 0.9833 | pathogenic | -3.839 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.632385699 | None | None | N |
| Y/T | 0.9962 | likely_pathogenic | 0.9954 | pathogenic | -3.562 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| Y/V | 0.9748 | likely_pathogenic | 0.9647 | pathogenic | -3.042 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| Y/W | 0.9096 | likely_pathogenic | 0.8904 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.779 | 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.