Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28971 | 87136;87137;87138 | chr2:178558548;178558547;178558546 | chr2:179423275;179423274;179423273 |
| N2AB | 27330 | 82213;82214;82215 | chr2:178558548;178558547;178558546 | chr2:179423275;179423274;179423273 |
| N2A | 26403 | 79432;79433;79434 | chr2:178558548;178558547;178558546 | chr2:179423275;179423274;179423273 |
| N2B | 19906 | 59941;59942;59943 | chr2:178558548;178558547;178558546 | chr2:179423275;179423274;179423273 |
| Novex-1 | 20031 | 60316;60317;60318 | chr2:178558548;178558547;178558546 | chr2:179423275;179423274;179423273 |
| Novex-2 | 20098 | 60517;60518;60519 | chr2:178558548;178558547;178558546 | chr2:179423275;179423274;179423273 |
| 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/R | rs368921501  |
0.113 | 1.0 | N | 0.797 | 0.497 | 0.7318066 | gnomAD-2.1.1 | 5.36E-05 | None | None | None | None | I | None | 4.54771E-04 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 2.35E-05 | 0 |
| G/R | rs368921501 |
0.113 | 1.0 | N | 0.797 | 0.497 | 0.7318066 | gnomAD-3.1.2 | 8.55E-05 | None | None | None | None | I | None | 3.13737E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs368921501 |
0.113 | 1.0 | N | 0.797 | 0.497 | 0.7318066 | gnomAD-4.0.0 | 2.04514E-05 | None | None | None | None | I | None | 2.93694E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47601E-06 | 1.09794E-05 | 0 |
| G/V | None | None | 1.0 | D | 0.786 | 0.521 | 0.74462867 | gnomAD-4.0.0 | 1.59142E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85819E-06 | 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 | 0.843 | likely_pathogenic | 0.8283 | pathogenic | -0.139 | Destabilizing | 1.0 | D | 0.611 | neutral | N | 0.49984333 | None | None | I |
| G/C | 0.9202 | likely_pathogenic | 0.9089 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/D | 0.9732 | likely_pathogenic | 0.9717 | pathogenic | -0.604 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/E | 0.9822 | likely_pathogenic | 0.9803 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.51327676 | None | None | I |
| G/F | 0.9831 | likely_pathogenic | 0.981 | pathogenic | -1.006 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/H | 0.9807 | likely_pathogenic | 0.978 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/I | 0.9794 | likely_pathogenic | 0.9769 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/K | 0.9821 | likely_pathogenic | 0.9792 | pathogenic | -0.501 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/L | 0.9783 | likely_pathogenic | 0.9734 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/M | 0.9868 | likely_pathogenic | 0.9842 | pathogenic | -0.479 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.9553 | likely_pathogenic | 0.9477 | pathogenic | -0.147 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | I |
| G/P | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/Q | 0.9735 | likely_pathogenic | 0.9694 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/R | 0.9525 | likely_pathogenic | 0.9613 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.5183032 | None | None | I |
| G/S | 0.737 | likely_pathogenic | 0.7058 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/T | 0.9528 | likely_pathogenic | 0.9482 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/V | 0.9694 | likely_pathogenic | 0.9648 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.54366237 | None | None | I |
| G/W | 0.9776 | likely_pathogenic | 0.9774 | pathogenic | -1.114 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Y | 0.9771 | likely_pathogenic | 0.973 | pathogenic | -0.784 | Destabilizing | 1.0 | D | 0.771 | 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.