Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7027 | 21304;21305;21306 | chr2:178724296;178724295;178724294 | chr2:179589023;179589022;179589021 |
| N2AB | 6710 | 20353;20354;20355 | chr2:178724296;178724295;178724294 | chr2:179589023;179589022;179589021 |
| N2A | 5783 | 17572;17573;17574 | chr2:178724296;178724295;178724294 | chr2:179589023;179589022;179589021 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs2078958911  |
None | 1.0 | D | 0.826 | 0.652 | 0.775756185 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs2078958911 |
None | 1.0 | D | 0.826 | 0.652 | 0.775756185 | gnomAD-4.0.0 | 5.12718E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.57689E-06 | 0 | 0 |
| G/R | rs1237624593 |
-0.124 | 1.0 | D | 0.851 | 0.662 | 0.850944246378 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1237624593 |
-0.124 | 1.0 | D | 0.851 | 0.662 | 0.850944246378 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1237624593 |
-0.124 | 1.0 | D | 0.851 | 0.662 | 0.850944246378 | gnomAD-4.0.0 | 6.5716E-06 | None | None | None | None | I | None | 2.41243E-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 | 0.8532 | likely_pathogenic | 0.8278 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.575530385 | None | None | I |
| G/C | 0.9577 | likely_pathogenic | 0.9499 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/D | 0.9402 | likely_pathogenic | 0.9421 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/E | 0.957 | likely_pathogenic | 0.9556 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.532182686 | None | None | I |
| G/F | 0.9907 | likely_pathogenic | 0.9909 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/H | 0.9899 | likely_pathogenic | 0.9895 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/I | 0.9878 | likely_pathogenic | 0.9884 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/K | 0.9867 | likely_pathogenic | 0.9879 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/L | 0.9835 | likely_pathogenic | 0.9836 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/M | 0.9908 | likely_pathogenic | 0.9896 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/N | 0.97 | likely_pathogenic | 0.9653 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/P | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/Q | 0.9702 | likely_pathogenic | 0.9694 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.9625 | likely_pathogenic | 0.9659 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.589894233 | None | None | I |
| G/S | 0.7603 | likely_pathogenic | 0.7363 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/T | 0.9563 | likely_pathogenic | 0.9525 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/V | 0.9752 | likely_pathogenic | 0.975 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.616037758 | None | None | I |
| G/W | 0.9731 | likely_pathogenic | 0.9752 | pathogenic | -1.317 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.616441366 | None | None | I |
| G/Y | 0.9861 | likely_pathogenic | 0.9856 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.823 | 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.