Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20158 | 60697;60698;60699 | chr2:178591253;178591252;178591251 | chr2:179455980;179455979;179455978 |
| N2AB | 18517 | 55774;55775;55776 | chr2:178591253;178591252;178591251 | chr2:179455980;179455979;179455978 |
| N2A | 17590 | 52993;52994;52995 | chr2:178591253;178591252;178591251 | chr2:179455980;179455979;179455978 |
| N2B | 11093 | 33502;33503;33504 | chr2:178591253;178591252;178591251 | chr2:179455980;179455979;179455978 |
| Novex-1 | 11218 | 33877;33878;33879 | chr2:178591253;178591252;178591251 | chr2:179455980;179455979;179455978 |
| Novex-2 | 11285 | 34078;34079;34080 | chr2:178591253;178591252;178591251 | chr2:179455980;179455979;179455978 |
| 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/C | rs375009570  |
-0.733 | 1.0 | D | 0.818 | 0.657 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/C | rs375009570 |
-0.733 | 1.0 | D | 0.818 | 0.657 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/C | rs375009570 |
-0.733 | 1.0 | D | 0.818 | 0.657 | None | gnomAD-4.0.0 | 8.05902E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01738E-05 | 0 | 1.60154E-05 |
| G/D | None | None | 1.0 | D | 0.861 | 0.637 | 0.617803836188 | gnomAD-4.0.0 | 1.36882E-06 | None | None | None | None | I | None | 2.99007E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99664E-07 | 0 | 0 |
| G/S | rs375009570 |
-0.361 | 1.0 | D | 0.807 | 0.622 | 0.541557034822 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 3.56E-05 | 0 |
| G/S | rs375009570 |
-0.361 | 1.0 | D | 0.807 | 0.622 | 0.541557034822 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs375009570 |
-0.361 | 1.0 | D | 0.807 | 0.622 | 0.541557034822 | gnomAD-4.0.0 | 2.16974E-05 | None | None | None | None | I | None | 1.33572E-05 | 3.33611E-05 | None | 0 | 8.92618E-05 | None | 0 | 0 | 2.11955E-05 | 2.19746E-05 | 1.60154E-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 | 0.6499 | likely_pathogenic | 0.7528 | pathogenic | -0.171 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.574137398 | None | None | I |
| G/C | 0.8511 | likely_pathogenic | 0.9122 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.639657832 | None | None | I |
| G/D | 0.9068 | likely_pathogenic | 0.9565 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.622024037 | None | None | I |
| G/E | 0.9419 | likely_pathogenic | 0.9749 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/F | 0.98 | likely_pathogenic | 0.9898 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/H | 0.9684 | likely_pathogenic | 0.9856 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/I | 0.9737 | likely_pathogenic | 0.9864 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/K | 0.9694 | likely_pathogenic | 0.9853 | pathogenic | -0.45 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/L | 0.9699 | likely_pathogenic | 0.9843 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/M | 0.9781 | likely_pathogenic | 0.9885 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/N | 0.9264 | likely_pathogenic | 0.9606 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9993 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/Q | 0.938 | likely_pathogenic | 0.9692 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/R | 0.927 | likely_pathogenic | 0.9609 | pathogenic | -0.12 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.613342863 | None | None | I |
| G/S | 0.5379 | ambiguous | 0.6747 | pathogenic | -0.322 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.582354242 | None | None | I |
| G/T | 0.8884 | likely_pathogenic | 0.9396 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/V | 0.9401 | likely_pathogenic | 0.9681 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.639254223 | None | None | I |
| G/W | 0.9798 | likely_pathogenic | 0.9905 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/Y | 0.9704 | likely_pathogenic | 0.986 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.847 | 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.