Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31310 | 94153;94154;94155 | chr2:178547698;178547697;178547696 | chr2:179412425;179412424;179412423 |
| N2AB | 29669 | 89230;89231;89232 | chr2:178547698;178547697;178547696 | chr2:179412425;179412424;179412423 |
| N2A | 28742 | 86449;86450;86451 | chr2:178547698;178547697;178547696 | chr2:179412425;179412424;179412423 |
| N2B | 22245 | 66958;66959;66960 | chr2:178547698;178547697;178547696 | chr2:179412425;179412424;179412423 |
| Novex-1 | 22370 | 67333;67334;67335 | chr2:178547698;178547697;178547696 | chr2:179412425;179412424;179412423 |
| Novex-2 | 22437 | 67534;67535;67536 | chr2:178547698;178547697;178547696 | chr2:179412425;179412424;179412423 |
| 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/C | None | None | 0.999 | N | 0.847 | 0.389 | 0.632238860444 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-06 | 0 | 0 |
| G/S | rs1697795255  |
None | 0.307 | N | 0.317 | 0.158 | 0.167679373172 | gnomAD-4.0.0 | 1.59106E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85788E-06 | 0 | 0 |
| G/V | rs886043776 |
None | 0.976 | N | 0.751 | 0.397 | 0.511735687887 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs886043776 |
None | 0.976 | N | 0.751 | 0.397 | 0.511735687887 | gnomAD-4.0.0 | 1.05343E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44087E-05 | 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 | 0.1943 | likely_benign | 0.1745 | benign | -0.74 | Destabilizing | 0.702 | D | 0.587 | neutral | N | 0.48401531 | None | None | N |
| G/C | 0.4204 | ambiguous | 0.3525 | ambiguous | -1.367 | Destabilizing | 0.999 | D | 0.847 | deleterious | N | 0.499121052 | None | None | N |
| G/D | 0.4805 | ambiguous | 0.4208 | ambiguous | -1.757 | Destabilizing | 0.919 | D | 0.695 | prob.delet. | N | 0.504874786 | None | None | N |
| G/E | 0.4588 | ambiguous | 0.4191 | ambiguous | -1.833 | Destabilizing | 0.981 | D | 0.663 | prob.neutral | None | None | None | None | N |
| G/F | 0.8027 | likely_pathogenic | 0.7595 | pathogenic | -1.335 | Destabilizing | 0.997 | D | 0.86 | deleterious | None | None | None | None | N |
| G/H | 0.7673 | likely_pathogenic | 0.6906 | pathogenic | -1.01 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| G/I | 0.6397 | likely_pathogenic | 0.5829 | pathogenic | -0.576 | Destabilizing | 0.981 | D | 0.865 | deleterious | None | None | None | None | N |
| G/K | 0.8298 | likely_pathogenic | 0.7779 | pathogenic | -1.07 | Destabilizing | 0.981 | D | 0.679 | prob.neutral | None | None | None | None | N |
| G/L | 0.5223 | ambiguous | 0.4883 | ambiguous | -0.576 | Destabilizing | 0.981 | D | 0.756 | deleterious | None | None | None | None | N |
| G/M | 0.6535 | likely_pathogenic | 0.6156 | pathogenic | -0.585 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| G/N | 0.4859 | ambiguous | 0.4306 | ambiguous | -0.967 | Destabilizing | 0.938 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/P | 0.9735 | likely_pathogenic | 0.959 | pathogenic | -0.597 | Destabilizing | 0.991 | D | 0.744 | deleterious | None | None | None | None | N |
| G/Q | 0.6498 | likely_pathogenic | 0.5981 | pathogenic | -1.276 | Destabilizing | 0.991 | D | 0.793 | deleterious | None | None | None | None | N |
| G/R | 0.7502 | likely_pathogenic | 0.6903 | pathogenic | -0.699 | Destabilizing | 0.988 | D | 0.777 | deleterious | N | 0.50246196 | None | None | N |
| G/S | 0.126 | likely_benign | 0.1154 | benign | -1.148 | Destabilizing | 0.307 | N | 0.317 | neutral | N | 0.459619712 | None | None | N |
| G/T | 0.3393 | likely_benign | 0.292 | benign | -1.164 | Destabilizing | 0.168 | N | 0.553 | neutral | None | None | None | None | N |
| G/V | 0.515 | ambiguous | 0.4667 | ambiguous | -0.597 | Destabilizing | 0.976 | D | 0.751 | deleterious | N | 0.498867562 | None | None | N |
| G/W | 0.7832 | likely_pathogenic | 0.7279 | pathogenic | -1.548 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | None | None | N |
| G/Y | 0.7283 | likely_pathogenic | 0.678 | pathogenic | -1.145 | Destabilizing | 0.997 | D | 0.852 | 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.