Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3264 | 10015;10016;10017 | chr2:178764725;178764724;178764723 | chr2:179629452;179629451;179629450 |
| N2AB | 3264 | 10015;10016;10017 | chr2:178764725;178764724;178764723 | chr2:179629452;179629451;179629450 |
| N2A | 3264 | 10015;10016;10017 | chr2:178764725;178764724;178764723 | chr2:179629452;179629451;179629450 |
| N2B | 3218 | 9877;9878;9879 | chr2:178764725;178764724;178764723 | chr2:179629452;179629451;179629450 |
| Novex-1 | 3218 | 9877;9878;9879 | chr2:178764725;178764724;178764723 | chr2:179629452;179629451;179629450 |
| Novex-2 | 3218 | 9877;9878;9879 | chr2:178764725;178764724;178764723 | chr2:179629452;179629451;179629450 |
| Novex-3 | 3264 | 10015;10016;10017 | chr2:178764725;178764724;178764723 | chr2:179629452;179629451;179629450 |
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/R | rs370190599  |
-0.738 | 1.0 | D | 0.807 | 0.849 | 0.875560046438 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 1.77E-05 | 0 |
| G/R | rs370190599 |
-0.738 | 1.0 | D | 0.807 | 0.849 | 0.875560046438 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs370190599 |
-0.738 | 1.0 | D | 0.807 | 0.849 | 0.875560046438 | gnomAD-4.0.0 | 4.95692E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56221E-05 | 0 | 5.93224E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7086 | likely_pathogenic | 0.7801 | pathogenic | -0.621 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.543261951 | None | None | N |
| G/C | 0.9658 | likely_pathogenic | 0.9801 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/D | 0.9941 | likely_pathogenic | 0.9975 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| G/E | 0.9957 | likely_pathogenic | 0.9982 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.816606222 | None | None | N |
| G/F | 0.9976 | likely_pathogenic | 0.9985 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/H | 0.9981 | likely_pathogenic | 0.9991 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/I | 0.9942 | likely_pathogenic | 0.9959 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| G/K | 0.9983 | likely_pathogenic | 0.9992 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/L | 0.9947 | likely_pathogenic | 0.9968 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/M | 0.9977 | likely_pathogenic | 0.9987 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| G/N | 0.9953 | likely_pathogenic | 0.9979 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/P | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Q | 0.9957 | likely_pathogenic | 0.9981 | pathogenic | -1.151 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/R | 0.9923 | likely_pathogenic | 0.9964 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.777194226 | None | None | N |
| G/S | 0.7763 | likely_pathogenic | 0.8746 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/T | 0.9752 | likely_pathogenic | 0.9852 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/V | 0.9826 | likely_pathogenic | 0.9867 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.75603775 | None | None | N |
| G/W | 0.996 | likely_pathogenic | 0.9983 | pathogenic | -1.468 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/Y | 0.9979 | likely_pathogenic | 0.9989 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.75 | 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.