Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25532 | 76819;76820;76821 | chr2:178569538;178569537;178569536 | chr2:179434265;179434264;179434263 |
| N2AB | 23891 | 71896;71897;71898 | chr2:178569538;178569537;178569536 | chr2:179434265;179434264;179434263 |
| N2A | 22964 | 69115;69116;69117 | chr2:178569538;178569537;178569536 | chr2:179434265;179434264;179434263 |
| N2B | 16467 | 49624;49625;49626 | chr2:178569538;178569537;178569536 | chr2:179434265;179434264;179434263 |
| Novex-1 | 16592 | 49999;50000;50001 | chr2:178569538;178569537;178569536 | chr2:179434265;179434264;179434263 |
| Novex-2 | 16659 | 50200;50201;50202 | chr2:178569538;178569537;178569536 | chr2:179434265;179434264;179434263 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs55984930  |
-1.552 | 0.892 | N | 0.699 | 0.226 | 0.507449927524 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.24E-05 | 0 |
| V/A | rs55984930 |
-1.552 | 0.892 | N | 0.699 | 0.226 | 0.507449927524 | gnomAD-4.0.0 | 7.5315E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.89785E-06 | 0 | 0 |
| V/F | rs1358589426 |
-1.078 | 0.967 | N | 0.813 | 0.369 | 0.722803228931 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 9.98E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs1358589426 |
-1.078 | 0.967 | N | 0.813 | 0.369 | 0.722803228931 | gnomAD-4.0.0 | 2.73847E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52768E-05 | None | 0 | 0 | 8.99734E-07 | 1.16066E-05 | 1.65799E-05 |
| V/L | None | None | 0.369 | N | 0.657 | 0.194 | 0.361758802978 | gnomAD-4.0.0 | 6.84618E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99734E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7306 | likely_pathogenic | 0.7854 | pathogenic | -1.344 | Destabilizing | 0.892 | D | 0.699 | prob.neutral | N | 0.480970846 | None | None | N |
| V/C | 0.9058 | likely_pathogenic | 0.9089 | pathogenic | -0.791 | Destabilizing | 0.999 | D | 0.815 | deleterious | None | None | None | None | N |
| V/D | 0.9973 | likely_pathogenic | 0.9982 | pathogenic | -1.188 | Destabilizing | 0.994 | D | 0.867 | deleterious | N | 0.498905744 | None | None | N |
| V/E | 0.9925 | likely_pathogenic | 0.9943 | pathogenic | -0.99 | Destabilizing | 0.996 | D | 0.852 | deleterious | None | None | None | None | N |
| V/F | 0.6349 | likely_pathogenic | 0.7516 | pathogenic | -0.769 | Destabilizing | 0.967 | D | 0.813 | deleterious | N | 0.498652255 | None | None | N |
| V/G | 0.9288 | likely_pathogenic | 0.9431 | pathogenic | -1.803 | Destabilizing | 0.983 | D | 0.866 | deleterious | N | 0.464418754 | None | None | N |
| V/H | 0.9944 | likely_pathogenic | 0.9955 | pathogenic | -1.265 | Destabilizing | 0.999 | D | 0.873 | deleterious | None | None | None | None | N |
| V/I | 0.0813 | likely_benign | 0.0995 | benign | -0.092 | Destabilizing | 0.025 | N | 0.352 | neutral | N | 0.44610891 | None | None | N |
| V/K | 0.994 | likely_pathogenic | 0.995 | pathogenic | -0.858 | Destabilizing | 0.987 | D | 0.857 | deleterious | None | None | None | None | N |
| V/L | 0.4659 | ambiguous | 0.6048 | pathogenic | -0.092 | Destabilizing | 0.369 | N | 0.657 | neutral | N | 0.470886761 | None | None | N |
| V/M | 0.5643 | likely_pathogenic | 0.6893 | pathogenic | -0.193 | Destabilizing | 0.975 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/N | 0.9879 | likely_pathogenic | 0.9913 | pathogenic | -1.188 | Destabilizing | 0.996 | D | 0.879 | deleterious | None | None | None | None | N |
| V/P | 0.9909 | likely_pathogenic | 0.9938 | pathogenic | -0.482 | Destabilizing | 0.996 | D | 0.848 | deleterious | None | None | None | None | N |
| V/Q | 0.9864 | likely_pathogenic | 0.9886 | pathogenic | -1.005 | Destabilizing | 0.996 | D | 0.863 | deleterious | None | None | None | None | N |
| V/R | 0.9877 | likely_pathogenic | 0.989 | pathogenic | -0.824 | Destabilizing | 0.996 | D | 0.879 | deleterious | None | None | None | None | N |
| V/S | 0.9118 | likely_pathogenic | 0.9219 | pathogenic | -1.824 | Destabilizing | 0.987 | D | 0.844 | deleterious | None | None | None | None | N |
| V/T | 0.8611 | likely_pathogenic | 0.8812 | pathogenic | -1.471 | Destabilizing | 0.916 | D | 0.763 | deleterious | None | None | None | None | N |
| V/W | 0.9942 | likely_pathogenic | 0.9964 | pathogenic | -1.109 | Destabilizing | 0.999 | D | 0.854 | deleterious | None | None | None | None | N |
| V/Y | 0.9733 | likely_pathogenic | 0.9822 | pathogenic | -0.681 | Destabilizing | 0.987 | D | 0.801 | 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.