Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30822 | 92689;92690;92691 | chr2:178549162;178549161;178549160 | chr2:179413889;179413888;179413887 |
| N2AB | 29181 | 87766;87767;87768 | chr2:178549162;178549161;178549160 | chr2:179413889;179413888;179413887 |
| N2A | 28254 | 84985;84986;84987 | chr2:178549162;178549161;178549160 | chr2:179413889;179413888;179413887 |
| N2B | 21757 | 65494;65495;65496 | chr2:178549162;178549161;178549160 | chr2:179413889;179413888;179413887 |
| Novex-1 | 21882 | 65869;65870;65871 | chr2:178549162;178549161;178549160 | chr2:179413889;179413888;179413887 |
| Novex-2 | 21949 | 66070;66071;66072 | chr2:178549162;178549161;178549160 | chr2:179413889;179413888;179413887 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.831 | 0.685 | 0.850410791878 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| P/R | None | None | 1.0 | D | 0.808 | 0.711 | 0.766094572944 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5885 | likely_pathogenic | 0.663 | pathogenic | -1.797 | Destabilizing | 0.999 | D | 0.791 | deleterious | D | 0.610171126 | None | None | N |
| P/C | 0.961 | likely_pathogenic | 0.9709 | pathogenic | -1.994 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/D | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -3.329 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/E | 0.9941 | likely_pathogenic | 0.9955 | pathogenic | -3.221 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| P/F | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/G | 0.9791 | likely_pathogenic | 0.9838 | pathogenic | -2.159 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| P/H | 0.9924 | likely_pathogenic | 0.9947 | pathogenic | -1.636 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/I | 0.976 | likely_pathogenic | 0.9836 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| P/K | 0.9955 | likely_pathogenic | 0.9967 | pathogenic | -1.595 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/L | 0.9264 | likely_pathogenic | 0.9491 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.6149055 | None | None | N |
| P/M | 0.9892 | likely_pathogenic | 0.9926 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.739 | deleterious | None | None | None | None | N |
| P/N | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -1.931 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/Q | 0.9874 | likely_pathogenic | 0.9912 | pathogenic | -1.975 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.632135687 | None | None | N |
| P/R | 0.9807 | likely_pathogenic | 0.9862 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.647953244 | None | None | N |
| P/S | 0.9363 | likely_pathogenic | 0.9536 | pathogenic | -2.284 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.622011523 | None | None | N |
| P/T | 0.9264 | likely_pathogenic | 0.9471 | pathogenic | -2.073 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | D | 0.582250647 | None | None | N |
| P/V | 0.9219 | likely_pathogenic | 0.9405 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/W | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.73 | deleterious | None | None | None | None | N |
| P/Y | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.811 | 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.