Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7596 | 23011;23012;23013 | chr2:178721877;178721876;178721875 | chr2:179586604;179586603;179586602 |
| N2AB | 7279 | 22060;22061;22062 | chr2:178721877;178721876;178721875 | chr2:179586604;179586603;179586602 |
| N2A | 6352 | 19279;19280;19281 | chr2:178721877;178721876;178721875 | chr2:179586604;179586603;179586602 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.01 | N | 0.296 | 0.102 | 0.190952846119 | gnomAD-4.0.0 | 1.59471E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77331E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs72648970  |
0.105 | 0.999 | N | 0.679 | 0.421 | None | gnomAD-2.1.1 | 2.80405E-02 | None | None | None | None | I | None | 5.12863E-03 | 1.17927E-02 | None | 2.24522E-02 | 1.53689E-04 | None | 4.63683E-02 | None | 2.72654E-02 | 3.72437E-02 | 3.07649E-02 |
| D/H | rs72648970 |
0.105 | 0.999 | N | 0.679 | 0.421 | None | gnomAD-3.1.2 | 2.43494E-02 | None | None | None | None | I | None | 5.3543E-03 | 1.8926E-02 | 4.82456E-02 | 2.10496E-02 | 1.92678E-04 | None | 2.6078E-02 | 1.58228E-02 | 3.70419E-02 | 4.64345E-02 | 2.43786E-02 |
| D/H | rs72648970 |
0.105 | 0.999 | N | 0.679 | 0.421 | None | 1000 genomes | 2.01677E-02 | None | None | None | None | I | None | 8E-04 | 2.16E-02 | None | None | 0 | 3.68E-02 | None | None | None | 4.91E-02 | None |
| D/H | rs72648970 |
0.105 | 0.999 | N | 0.679 | 0.421 | None | gnomAD-4.0.0 | 3.37577E-02 | None | None | None | None | I | None | 4.93254E-03 | 1.44311E-02 | None | 2.26487E-02 | 8.91623E-05 | None | 2.82618E-02 | 3.68595E-02 | 3.75621E-02 | 4.69607E-02 | 3.04608E-02 |
| D/N | None | None | 0.977 | D | 0.616 | 0.337 | 0.322510055762 | gnomAD-4.0.0 | 6.84868E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16322E-05 | 0 |
| D/Y | rs72648970 |
0.599 | 1.0 | D | 0.818 | 0.448 | 0.776745378001 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.2325 | likely_benign | 0.2529 | benign | -0.448 | Destabilizing | 0.965 | D | 0.706 | prob.neutral | N | 0.404591228 | None | None | I |
| D/C | 0.8806 | likely_pathogenic | 0.8916 | pathogenic | -0.325 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | I |
| D/E | 0.3602 | ambiguous | 0.3965 | ambiguous | -0.794 | Destabilizing | 0.01 | N | 0.296 | neutral | N | 0.490114057 | None | None | I |
| D/F | 0.8218 | likely_pathogenic | 0.8279 | pathogenic | 0.155 | Stabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | I |
| D/G | 0.3017 | likely_benign | 0.341 | ambiguous | -0.861 | Destabilizing | 0.976 | D | 0.649 | neutral | N | 0.488303357 | None | None | I |
| D/H | 0.6461 | likely_pathogenic | 0.792 | pathogenic | -0.265 | Destabilizing | 0.999 | D | 0.679 | prob.neutral | N | 0.494886723 | None | None | I |
| D/I | 0.742 | likely_pathogenic | 0.7135 | pathogenic | 0.664 | Stabilizing | 0.996 | D | 0.769 | deleterious | None | None | None | None | I |
| D/K | 0.7943 | likely_pathogenic | 0.8214 | pathogenic | -0.757 | Destabilizing | 0.996 | D | 0.673 | neutral | None | None | None | None | I |
| D/L | 0.7519 | likely_pathogenic | 0.7834 | pathogenic | 0.664 | Stabilizing | 0.985 | D | 0.761 | deleterious | None | None | None | None | I |
| D/M | 0.8748 | likely_pathogenic | 0.8783 | pathogenic | 1.11 | Stabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | I |
| D/N | 0.201 | likely_benign | 0.2416 | benign | -1.188 | Destabilizing | 0.977 | D | 0.616 | neutral | D | 0.533712905 | None | None | I |
| D/P | 0.9859 | likely_pathogenic | 0.9863 | pathogenic | 0.32 | Stabilizing | 0.949 | D | 0.709 | prob.delet. | None | None | None | None | I |
| D/Q | 0.6602 | likely_pathogenic | 0.7076 | pathogenic | -0.975 | Destabilizing | 0.989 | D | 0.623 | neutral | None | None | None | None | I |
| D/R | 0.8205 | likely_pathogenic | 0.8446 | pathogenic | -0.545 | Destabilizing | 0.998 | D | 0.792 | deleterious | None | None | None | None | I |
| D/S | 0.226 | likely_benign | 0.2631 | benign | -1.538 | Destabilizing | 0.973 | D | 0.596 | neutral | None | None | None | None | I |
| D/T | 0.4817 | ambiguous | 0.493 | ambiguous | -1.198 | Destabilizing | 0.942 | D | 0.658 | neutral | None | None | None | None | I |
| D/V | 0.4536 | ambiguous | 0.4198 | ambiguous | 0.32 | Stabilizing | 0.189 | N | 0.536 | neutral | N | 0.474701887 | None | None | I |
| D/W | 0.9779 | likely_pathogenic | 0.9775 | pathogenic | 0.271 | Stabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| D/Y | 0.4794 | ambiguous | 0.5049 | ambiguous | 0.369 | Stabilizing | 1.0 | D | 0.818 | deleterious | D | 0.524600773 | 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.