Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27768 | 83527;83528;83529 | chr2:178562830;178562829;178562828 | chr2:179427557;179427556;179427555 |
| N2AB | 26127 | 78604;78605;78606 | chr2:178562830;178562829;178562828 | chr2:179427557;179427556;179427555 |
| N2A | 25200 | 75823;75824;75825 | chr2:178562830;178562829;178562828 | chr2:179427557;179427556;179427555 |
| N2B | 18703 | 56332;56333;56334 | chr2:178562830;178562829;178562828 | chr2:179427557;179427556;179427555 |
| Novex-1 | 18828 | 56707;56708;56709 | chr2:178562830;178562829;178562828 | chr2:179427557;179427556;179427555 |
| Novex-2 | 18895 | 56908;56909;56910 | chr2:178562830;178562829;178562828 | chr2:179427557;179427556;179427555 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | rs1460650626  |
None | 0.011 | N | 0.359 | 0.195 | 0.166414681773 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| S/G | rs1460650626 |
None | 0.011 | N | 0.359 | 0.195 | 0.166414681773 | gnomAD-4.0.0 | 4.95971E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78226E-06 | 0 | 0 |
| S/N | rs763612512 |
-0.8 | 0.892 | N | 0.661 | 0.339 | 0.313518423057 | gnomAD-2.1.1 | 4.46E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.22877E-04 | None | 0 | None | 0 | 0 | 0 |
| S/N | rs763612512 |
-0.8 | 0.892 | N | 0.661 | 0.339 | 0.313518423057 | gnomAD-4.0.0 | 5.47641E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.77143E-04 | None | 0 | 0 | 8.9968E-07 | 0 | 0 |
| S/T | rs763612512 |
None | 0.944 | N | 0.61 | 0.358 | 0.31501682445 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| S/T | rs763612512 |
None | 0.944 | N | 0.61 | 0.358 | 0.31501682445 | gnomAD-4.0.0 | 1.85996E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.1966E-05 | 1.60272E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1217 | likely_benign | 0.1231 | benign | -0.824 | Destabilizing | 0.693 | D | 0.559 | neutral | None | None | None | None | N |
| S/C | 0.2977 | likely_benign | 0.2945 | benign | -0.727 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | N | 0.517024724 | None | None | N |
| S/D | 0.826 | likely_pathogenic | 0.8032 | pathogenic | -0.72 | Destabilizing | 0.916 | D | 0.663 | neutral | None | None | None | None | N |
| S/E | 0.9393 | likely_pathogenic | 0.9371 | pathogenic | -0.698 | Destabilizing | 0.957 | D | 0.663 | neutral | None | None | None | None | N |
| S/F | 0.8133 | likely_pathogenic | 0.8344 | pathogenic | -0.909 | Destabilizing | 0.996 | D | 0.817 | deleterious | None | None | None | None | N |
| S/G | 0.1056 | likely_benign | 0.1071 | benign | -1.081 | Destabilizing | 0.011 | N | 0.359 | neutral | N | 0.411311264 | None | None | N |
| S/H | 0.8896 | likely_pathogenic | 0.8822 | pathogenic | -1.5 | Destabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/I | 0.8352 | likely_pathogenic | 0.8503 | pathogenic | -0.237 | Destabilizing | 0.994 | D | 0.808 | deleterious | N | 0.517024724 | None | None | N |
| S/K | 0.9888 | likely_pathogenic | 0.9881 | pathogenic | -0.745 | Destabilizing | 0.916 | D | 0.668 | neutral | None | None | None | None | N |
| S/L | 0.4241 | ambiguous | 0.4411 | ambiguous | -0.237 | Destabilizing | 0.987 | D | 0.779 | deleterious | None | None | None | None | N |
| S/M | 0.5951 | likely_pathogenic | 0.6141 | pathogenic | -0.033 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | None | None | None | None | N |
| S/N | 0.57 | likely_pathogenic | 0.5413 | ambiguous | -0.793 | Destabilizing | 0.892 | D | 0.661 | neutral | N | 0.488245272 | None | None | N |
| S/P | 0.9523 | likely_pathogenic | 0.963 | pathogenic | -0.4 | Destabilizing | 0.996 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/Q | 0.9256 | likely_pathogenic | 0.9191 | pathogenic | -0.978 | Destabilizing | 0.996 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/R | 0.9811 | likely_pathogenic | 0.9793 | pathogenic | -0.64 | Destabilizing | 0.983 | D | 0.732 | prob.delet. | N | 0.492880081 | None | None | N |
| S/T | 0.3289 | likely_benign | 0.3604 | ambiguous | -0.774 | Destabilizing | 0.944 | D | 0.61 | neutral | N | 0.485789736 | None | None | N |
| S/V | 0.7427 | likely_pathogenic | 0.7598 | pathogenic | -0.4 | Destabilizing | 0.987 | D | 0.799 | deleterious | None | None | None | None | N |
| S/W | 0.9118 | likely_pathogenic | 0.917 | pathogenic | -0.878 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| S/Y | 0.7833 | likely_pathogenic | 0.7843 | pathogenic | -0.602 | Destabilizing | 0.996 | D | 0.822 | 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.