Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26846 | 80761;80762;80763 | chr2:178565596;178565595;178565594 | chr2:179430323;179430322;179430321 |
| N2AB | 25205 | 75838;75839;75840 | chr2:178565596;178565595;178565594 | chr2:179430323;179430322;179430321 |
| N2A | 24278 | 73057;73058;73059 | chr2:178565596;178565595;178565594 | chr2:179430323;179430322;179430321 |
| N2B | 17781 | 53566;53567;53568 | chr2:178565596;178565595;178565594 | chr2:179430323;179430322;179430321 |
| Novex-1 | 17906 | 53941;53942;53943 | chr2:178565596;178565595;178565594 | chr2:179430323;179430322;179430321 |
| Novex-2 | 17973 | 54142;54143;54144 | chr2:178565596;178565595;178565594 | chr2:179430323;179430322;179430321 |
| 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/A | None | None | 0.999 | N | 0.727 | 0.544 | 0.358948522604 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| G/R | rs767520023  |
-0.44 | 1.0 | N | 0.85 | 0.649 | 0.439975540334 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/R | rs767520023 |
-0.44 | 1.0 | N | 0.85 | 0.649 | 0.439975540334 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs767520023 |
-0.44 | 1.0 | N | 0.85 | 0.649 | 0.439975540334 | gnomAD-4.0.0 | 1.1776E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61067E-05 | 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 | 0.4005 | ambiguous | 0.4185 | ambiguous | -0.41 | Destabilizing | 0.999 | D | 0.727 | prob.delet. | N | 0.479506903 | None | None | N |
| G/C | 0.4697 | ambiguous | 0.5118 | ambiguous | -0.94 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/D | 0.3457 | ambiguous | 0.402 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| G/E | 0.459 | ambiguous | 0.4847 | ambiguous | -0.56 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.489711119 | None | None | N |
| G/F | 0.7736 | likely_pathogenic | 0.7888 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.5326 | ambiguous | 0.5751 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/I | 0.7772 | likely_pathogenic | 0.8039 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/K | 0.6408 | likely_pathogenic | 0.6763 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/L | 0.6749 | likely_pathogenic | 0.6965 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/M | 0.7217 | likely_pathogenic | 0.7465 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.2807 | likely_benign | 0.3113 | benign | -0.53 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/P | 0.975 | likely_pathogenic | 0.9849 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| G/Q | 0.4729 | ambiguous | 0.4898 | ambiguous | -0.793 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/R | 0.493 | ambiguous | 0.52 | ambiguous | -0.455 | Destabilizing | 1.0 | D | 0.85 | deleterious | N | 0.511209189 | None | None | N |
| G/S | 0.1665 | likely_benign | 0.1764 | benign | -0.758 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/T | 0.4254 | ambiguous | 0.478 | ambiguous | -0.823 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/V | 0.6681 | likely_pathogenic | 0.7086 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.529909328 | None | None | N |
| G/W | 0.6495 | likely_pathogenic | 0.6861 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/Y | 0.6648 | likely_pathogenic | 0.6884 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.815 | 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.