Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19808 | 59647;59648;59649 | chr2:178592583;178592582;178592581 | chr2:179457310;179457309;179457308 |
| N2AB | 18167 | 54724;54725;54726 | chr2:178592583;178592582;178592581 | chr2:179457310;179457309;179457308 |
| N2A | 17240 | 51943;51944;51945 | chr2:178592583;178592582;178592581 | chr2:179457310;179457309;179457308 |
| N2B | 10743 | 32452;32453;32454 | chr2:178592583;178592582;178592581 | chr2:179457310;179457309;179457308 |
| Novex-1 | 10868 | 32827;32828;32829 | chr2:178592583;178592582;178592581 | chr2:179457310;179457309;179457308 |
| Novex-2 | 10935 | 33028;33029;33030 | chr2:178592583;178592582;178592581 | chr2:179457310;179457309;179457308 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/V | rs780766254  |
1.05 | 1.0 | N | 0.777 | 0.437 | 0.315314060047 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11794E-04 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs780766254 |
1.05 | 1.0 | N | 0.777 | 0.437 | 0.315314060047 | gnomAD-4.0.0 | 4.106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52347E-05 | None | 0 | 0 | 3.59836E-06 | 0 | 1.65673E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7083 | likely_pathogenic | 0.7286 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/D | 0.9966 | likely_pathogenic | 0.9975 | pathogenic | -0.185 | Destabilizing | 1.0 | D | 0.917 | deleterious | N | 0.489560447 | None | None | N |
| A/E | 0.9959 | likely_pathogenic | 0.9971 | pathogenic | -0.253 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| A/F | 0.9639 | likely_pathogenic | 0.97 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.941 | deleterious | None | None | None | None | N |
| A/G | 0.5051 | ambiguous | 0.4794 | ambiguous | -0.668 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.508408163 | None | None | N |
| A/H | 0.9945 | likely_pathogenic | 0.9959 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| A/I | 0.8612 | likely_pathogenic | 0.8658 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| A/K | 0.9982 | likely_pathogenic | 0.9988 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/L | 0.8157 | likely_pathogenic | 0.8574 | pathogenic | -0.152 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/M | 0.878 | likely_pathogenic | 0.8928 | pathogenic | -0.311 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| A/N | 0.9863 | likely_pathogenic | 0.9891 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | N |
| A/P | 0.988 | likely_pathogenic | 0.9912 | pathogenic | -0.221 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.478204142 | None | None | N |
| A/Q | 0.9892 | likely_pathogenic | 0.9926 | pathogenic | -0.558 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| A/R | 0.9925 | likely_pathogenic | 0.9955 | pathogenic | -0.374 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/S | 0.4283 | ambiguous | 0.4049 | ambiguous | -0.791 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.466176273 | None | None | N |
| A/T | 0.5839 | likely_pathogenic | 0.5602 | ambiguous | -0.746 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.477443673 | None | None | N |
| A/V | 0.5562 | ambiguous | 0.5542 | ambiguous | -0.221 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.467769475 | None | None | N |
| A/W | 0.9972 | likely_pathogenic | 0.9983 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| A/Y | 0.9864 | likely_pathogenic | 0.9898 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.949 | 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.