Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5662 | 17209;17210;17211 | chr2:178731891;178731890;178731889 | chr2:179596618;179596617;179596616 |
| N2AB | 5345 | 16258;16259;16260 | chr2:178731891;178731890;178731889 | chr2:179596618;179596617;179596616 |
| N2A | 4418 | 13477;13478;13479 | chr2:178731891;178731890;178731889 | chr2:179596618;179596617;179596616 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs760089168  |
-0.682 | 1.0 | D | 0.799 | 0.536 | 0.655917873618 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 3.13E-05 | 0 |
| G/D | rs760089168 |
-0.682 | 1.0 | D | 0.799 | 0.536 | 0.655917873618 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 2.07211E-04 | 0 |
| G/D | rs760089168 |
-0.682 | 1.0 | D | 0.799 | 0.536 | 0.655917873618 | gnomAD-4.0.0 | 2.47895E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.29164E-04 | 2.62773E-05 | 3.29402E-05 | 6.40512E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6864 | likely_pathogenic | 0.6799 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.557660836 | None | None | I |
| G/C | 0.9585 | likely_pathogenic | 0.9621 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.620041688 | None | None | I |
| G/D | 0.9851 | likely_pathogenic | 0.9875 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.586559976 | None | None | I |
| G/E | 0.9852 | likely_pathogenic | 0.9887 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/F | 0.9941 | likely_pathogenic | 0.9955 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/H | 0.9959 | likely_pathogenic | 0.9975 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | I |
| G/I | 0.9862 | likely_pathogenic | 0.9902 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/K | 0.9943 | likely_pathogenic | 0.9961 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/L | 0.9886 | likely_pathogenic | 0.9909 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/M | 0.9923 | likely_pathogenic | 0.9943 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/N | 0.9894 | likely_pathogenic | 0.9926 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/Q | 0.9903 | likely_pathogenic | 0.993 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/R | 0.9825 | likely_pathogenic | 0.9864 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.788 | deleterious | D | 0.594099968 | None | None | I |
| G/S | 0.7724 | likely_pathogenic | 0.8164 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.812 | deleterious | D | 0.545668637 | None | None | I |
| G/T | 0.9585 | likely_pathogenic | 0.9696 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/V | 0.9634 | likely_pathogenic | 0.9714 | pathogenic | -0.205 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.61963808 | None | None | I |
| G/W | 0.9912 | likely_pathogenic | 0.9942 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9938 | likely_pathogenic | 0.9958 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | I |
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.