Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27598 | 83017;83018;83019 | chr2:178563340;178563339;178563338 | chr2:179428067;179428066;179428065 |
| N2AB | 25957 | 78094;78095;78096 | chr2:178563340;178563339;178563338 | chr2:179428067;179428066;179428065 |
| N2A | 25030 | 75313;75314;75315 | chr2:178563340;178563339;178563338 | chr2:179428067;179428066;179428065 |
| N2B | 18533 | 55822;55823;55824 | chr2:178563340;178563339;178563338 | chr2:179428067;179428066;179428065 |
| Novex-1 | 18658 | 56197;56198;56199 | chr2:178563340;178563339;178563338 | chr2:179428067;179428066;179428065 |
| Novex-2 | 18725 | 56398;56399;56400 | chr2:178563340;178563339;178563338 | chr2:179428067;179428066;179428065 |
| 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/S | rs985566463  |
-1.07 | 1.0 | N | 0.801 | 0.554 | 0.363158594168 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs985566463 |
-1.07 | 1.0 | N | 0.801 | 0.554 | 0.363158594168 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs985566463 |
-1.07 | 1.0 | N | 0.801 | 0.554 | 0.363158594168 | gnomAD-4.0.0 | 3.09888E-06 | None | None | None | None | I | None | 6.67646E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9543 | likely_pathogenic | 0.946 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.508716157 | None | None | I |
| G/C | 0.9853 | likely_pathogenic | 0.9836 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.53648165 | None | None | I |
| G/D | 0.9964 | likely_pathogenic | 0.9956 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.498245224 | None | None | I |
| G/E | 0.9975 | likely_pathogenic | 0.997 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/F | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | I |
| G/H | 0.9977 | likely_pathogenic | 0.9975 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/I | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/K | 0.9971 | likely_pathogenic | 0.9968 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/L | 0.998 | likely_pathogenic | 0.9976 | pathogenic | -0.408 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/M | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9943 | likely_pathogenic | 0.9939 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/Q | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/R | 0.9888 | likely_pathogenic | 0.987 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.500473723 | None | None | I |
| G/S | 0.9252 | likely_pathogenic | 0.9232 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.502270922 | None | None | I |
| G/T | 0.9928 | likely_pathogenic | 0.9917 | pathogenic | -0.824 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/V | 0.9965 | likely_pathogenic | 0.9957 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.524871856 | None | None | I |
| G/W | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -1.297 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/Y | 0.9975 | likely_pathogenic | 0.9974 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.801 | deleterious | 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.