Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28183 | 84772;84773;84774 | chr2:178561585;178561584;178561583 | chr2:179426312;179426311;179426310 |
| N2AB | 26542 | 79849;79850;79851 | chr2:178561585;178561584;178561583 | chr2:179426312;179426311;179426310 |
| N2A | 25615 | 77068;77069;77070 | chr2:178561585;178561584;178561583 | chr2:179426312;179426311;179426310 |
| N2B | 19118 | 57577;57578;57579 | chr2:178561585;178561584;178561583 | chr2:179426312;179426311;179426310 |
| Novex-1 | 19243 | 57952;57953;57954 | chr2:178561585;178561584;178561583 | chr2:179426312;179426311;179426310 |
| Novex-2 | 19310 | 58153;58154;58155 | chr2:178561585;178561584;178561583 | chr2:179426312;179426311;179426310 |
| 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/E | rs1486983313  |
-0.615 | 1.0 | D | 0.789 | 0.57 | 0.653558895992 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1486983313 |
-0.615 | 1.0 | D | 0.789 | 0.57 | 0.653558895992 | gnomAD-4.0.0 | 2.05342E-06 | None | None | None | None | I | None | 0 | 4.47828E-05 | None | 0 | 2.52704E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | 1.0 | D | 0.79 | 0.564 | 0.769887523152 | gnomAD-4.0.0 | 6.84472E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99653E-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 | 0.7532 | likely_pathogenic | 0.7741 | pathogenic | -0.153 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.50708504 | None | None | I |
| G/C | 0.8265 | likely_pathogenic | 0.8497 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/D | 0.8084 | likely_pathogenic | 0.8329 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/E | 0.8859 | likely_pathogenic | 0.903 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.528089357 | None | None | I |
| G/F | 0.97 | likely_pathogenic | 0.9737 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/H | 0.9076 | likely_pathogenic | 0.9227 | pathogenic | -0.273 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/I | 0.9597 | likely_pathogenic | 0.9602 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| G/K | 0.9099 | likely_pathogenic | 0.9251 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/L | 0.9556 | likely_pathogenic | 0.9595 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/M | 0.9637 | likely_pathogenic | 0.9653 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/N | 0.7862 | likely_pathogenic | 0.8036 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| G/P | 0.9927 | likely_pathogenic | 0.9927 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.8658 | likely_pathogenic | 0.8825 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/R | 0.8428 | likely_pathogenic | 0.8668 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.513859443 | None | None | I |
| G/S | 0.5066 | ambiguous | 0.5339 | ambiguous | -0.365 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | I |
| G/T | 0.8804 | likely_pathogenic | 0.8851 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.9358 | likely_pathogenic | 0.9392 | pathogenic | -0.299 | Destabilizing | 1.0 | D | 0.79 | deleterious | D | 0.555347872 | None | None | I |
| G/W | 0.9628 | likely_pathogenic | 0.9663 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Y | 0.9401 | likely_pathogenic | 0.9484 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.777 | 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.