Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2371 | 7336;7337;7338 | chr2:178774057;178774056;178774055 | chr2:179638784;179638783;179638782 |
| N2AB | 2371 | 7336;7337;7338 | chr2:178774057;178774056;178774055 | chr2:179638784;179638783;179638782 |
| N2A | 2371 | 7336;7337;7338 | chr2:178774057;178774056;178774055 | chr2:179638784;179638783;179638782 |
| N2B | 2325 | 7198;7199;7200 | chr2:178774057;178774056;178774055 | chr2:179638784;179638783;179638782 |
| Novex-1 | 2325 | 7198;7199;7200 | chr2:178774057;178774056;178774055 | chr2:179638784;179638783;179638782 |
| Novex-2 | 2325 | 7198;7199;7200 | chr2:178774057;178774056;178774055 | chr2:179638784;179638783;179638782 |
| Novex-3 | 2371 | 7336;7337;7338 | chr2:178774057;178774056;178774055 | chr2:179638784;179638783;179638782 |
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 | 1.0 | N | 0.463 | 0.383 | 0.421674004627 | gnomAD-4.0.0 | 1.59067E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85664E-06 | 0 | 0 |
| D/G | None | None | 1.0 | D | 0.711 | 0.691 | 0.622692979393 | gnomAD-4.0.0 | 1.59064E-06 | None | None | None | None | N | None | 5.65419E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8248 | likely_pathogenic | 0.8196 | pathogenic | -0.336 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.544681105 | None | None | N |
| D/C | 0.9785 | likely_pathogenic | 0.9795 | pathogenic | 0.043 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| D/E | 0.6669 | likely_pathogenic | 0.646 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.463 | neutral | N | 0.503285094 | None | None | N |
| D/F | 0.9705 | likely_pathogenic | 0.9729 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| D/G | 0.8421 | likely_pathogenic | 0.8379 | pathogenic | -0.55 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.544050379 | None | None | N |
| D/H | 0.921 | likely_pathogenic | 0.9226 | pathogenic | -0.382 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.542283041 | None | None | N |
| D/I | 0.9688 | likely_pathogenic | 0.9704 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/K | 0.964 | likely_pathogenic | 0.9658 | pathogenic | 0.087 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/L | 0.961 | likely_pathogenic | 0.9629 | pathogenic | 0.183 | Stabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| D/M | 0.9701 | likely_pathogenic | 0.9703 | pathogenic | 0.432 | Stabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/N | 0.4395 | ambiguous | 0.4241 | ambiguous | -0.108 | Destabilizing | 1.0 | D | 0.668 | neutral | D | 0.605655786 | None | None | N |
| D/P | 0.9984 | likely_pathogenic | 0.9987 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| D/Q | 0.9065 | likely_pathogenic | 0.9051 | pathogenic | -0.077 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| D/R | 0.9681 | likely_pathogenic | 0.9699 | pathogenic | 0.212 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| D/S | 0.6407 | likely_pathogenic | 0.6262 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/T | 0.903 | likely_pathogenic | 0.9026 | pathogenic | -0.092 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| D/V | 0.9141 | likely_pathogenic | 0.9184 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.819 | deleterious | D | 0.666186032 | None | None | N |
| D/W | 0.9953 | likely_pathogenic | 0.9957 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| D/Y | 0.845 | likely_pathogenic | 0.852 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.627413335 | 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.