Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23908 | 71947;71948;71949 | chr2:178574410;178574409;178574408 | chr2:179439137;179439136;179439135 |
| N2AB | 22267 | 67024;67025;67026 | chr2:178574410;178574409;178574408 | chr2:179439137;179439136;179439135 |
| N2A | 21340 | 64243;64244;64245 | chr2:178574410;178574409;178574408 | chr2:179439137;179439136;179439135 |
| N2B | 14843 | 44752;44753;44754 | chr2:178574410;178574409;178574408 | chr2:179439137;179439136;179439135 |
| Novex-1 | 14968 | 45127;45128;45129 | chr2:178574410;178574409;178574408 | chr2:179439137;179439136;179439135 |
| Novex-2 | 15035 | 45328;45329;45330 | chr2:178574410;178574409;178574408 | chr2:179439137;179439136;179439135 |
| 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/D | rs540161344  |
-1.214 | 1.0 | D | 0.913 | 0.826 | None | gnomAD-2.1.1 | 7.15E-05 | None | None | None | None | I | None | 6.61704E-04 | 1.13282E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs540161344 |
-1.214 | 1.0 | D | 0.913 | 0.826 | None | gnomAD-3.1.2 | 1.97322E-04 | None | None | None | None | I | None | 6.76198E-04 | 1.31096E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs540161344 |
-1.214 | 1.0 | D | 0.913 | 0.826 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | I | None | 8E-04 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/D | rs540161344 |
-1.214 | 1.0 | D | 0.913 | 0.826 | None | gnomAD-4.0.0 | 5.5108E-05 | None | None | None | None | I | None | 6.41935E-04 | 8.47429E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1417810577 |
None | 1.0 | D | 0.917 | 0.811 | 0.701007744885 | 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/R | rs1417810577 |
None | 1.0 | D | 0.917 | 0.811 | 0.701007744885 | gnomAD-4.0.0 | 6.57462E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47067E-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 | 0.8358 | likely_pathogenic | 0.8813 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.566823217 | None | None | I |
| G/C | 0.9357 | likely_pathogenic | 0.9495 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.57944697 | None | None | I |
| G/D | 0.9605 | likely_pathogenic | 0.9719 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.913 | deleterious | D | 0.551174497 | None | None | I |
| G/E | 0.9677 | likely_pathogenic | 0.9761 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/F | 0.9914 | likely_pathogenic | 0.993 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/H | 0.9855 | likely_pathogenic | 0.9879 | pathogenic | -0.996 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/I | 0.9893 | likely_pathogenic | 0.9928 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/K | 0.9766 | likely_pathogenic | 0.9811 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/L | 0.9833 | likely_pathogenic | 0.9865 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/M | 0.9888 | likely_pathogenic | 0.9915 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/N | 0.9662 | likely_pathogenic | 0.9752 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/P | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/Q | 0.9607 | likely_pathogenic | 0.9661 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/R | 0.9439 | likely_pathogenic | 0.952 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.560328757 | None | None | I |
| G/S | 0.7114 | likely_pathogenic | 0.7776 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.566316238 | None | None | I |
| G/T | 0.9488 | likely_pathogenic | 0.9649 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/V | 0.9744 | likely_pathogenic | 0.9818 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.567330196 | None | None | I |
| G/W | 0.9845 | likely_pathogenic | 0.9869 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/Y | 0.9856 | likely_pathogenic | 0.9893 | pathogenic | -1.122 | Destabilizing | 1.0 | D | 0.895 | 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.