Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28480 | 85663;85664;85665 | chr2:178560694;178560693;178560692 | chr2:179425421;179425420;179425419 |
| N2AB | 26839 | 80740;80741;80742 | chr2:178560694;178560693;178560692 | chr2:179425421;179425420;179425419 |
| N2A | 25912 | 77959;77960;77961 | chr2:178560694;178560693;178560692 | chr2:179425421;179425420;179425419 |
| N2B | 19415 | 58468;58469;58470 | chr2:178560694;178560693;178560692 | chr2:179425421;179425420;179425419 |
| Novex-1 | 19540 | 58843;58844;58845 | chr2:178560694;178560693;178560692 | chr2:179425421;179425420;179425419 |
| Novex-2 | 19607 | 59044;59045;59046 | chr2:178560694;178560693;178560692 | chr2:179425421;179425420;179425419 |
| 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 | rs1703319018  |
None | 1.0 | D | 0.721 | 0.502 | 0.466230903105 | 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/D | rs1703319018 |
None | 1.0 | D | 0.721 | 0.502 | 0.466230903105 | gnomAD-4.0.0 | 2.56267E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.57089E-05 | 0 | 2.39291E-06 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.71 | 0.435 | 0.38225645794 | gnomAD-4.0.0 | 6.8427E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5664 | likely_pathogenic | 0.5923 | pathogenic | -0.182 | Destabilizing | 1.0 | D | 0.624 | neutral | D | 0.523214285 | None | None | I |
| G/C | 0.5474 | ambiguous | 0.5726 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.532964429 | None | None | I |
| G/D | 0.816 | likely_pathogenic | 0.8431 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.527342115 | None | None | I |
| G/E | 0.8397 | likely_pathogenic | 0.8619 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/F | 0.9328 | likely_pathogenic | 0.9345 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9132 | likely_pathogenic | 0.9162 | pathogenic | -0.367 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/I | 0.915 | likely_pathogenic | 0.912 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/K | 0.914 | likely_pathogenic | 0.9248 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/L | 0.9035 | likely_pathogenic | 0.9042 | pathogenic | -0.331 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/M | 0.9195 | likely_pathogenic | 0.9208 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/N | 0.8296 | likely_pathogenic | 0.8222 | pathogenic | -0.216 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/P | 0.9944 | likely_pathogenic | 0.9942 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/Q | 0.8655 | likely_pathogenic | 0.8754 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/R | 0.8012 | likely_pathogenic | 0.828 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.532622034 | None | None | I |
| G/S | 0.4019 | ambiguous | 0.4156 | ambiguous | -0.394 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.5126809 | None | None | I |
| G/T | 0.8154 | likely_pathogenic | 0.8109 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/V | 0.8508 | likely_pathogenic | 0.852 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.562589574 | None | None | I |
| G/W | 0.8913 | likely_pathogenic | 0.9016 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/Y | 0.8978 | likely_pathogenic | 0.9068 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.785 | 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.