Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3355 | 10288;10289;10290 | chr2:178764228;178764227;178764226 | chr2:179628955;179628954;179628953 |
| N2AB | 3355 | 10288;10289;10290 | chr2:178764228;178764227;178764226 | chr2:179628955;179628954;179628953 |
| N2A | 3355 | 10288;10289;10290 | chr2:178764228;178764227;178764226 | chr2:179628955;179628954;179628953 |
| N2B | 3309 | 10150;10151;10152 | chr2:178764228;178764227;178764226 | chr2:179628955;179628954;179628953 |
| Novex-1 | 3309 | 10150;10151;10152 | chr2:178764228;178764227;178764226 | chr2:179628955;179628954;179628953 |
| Novex-2 | 3309 | 10150;10151;10152 | chr2:178764228;178764227;178764226 | chr2:179628955;179628954;179628953 |
| Novex-3 | 3355 | 10288;10289;10290 | chr2:178764228;178764227;178764226 | chr2:179628955;179628954;179628953 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | None | None | 0.317 | N | 0.345 | 0.13 | 0.490352026379 | gnomAD-4.0.0 | 6.8409E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 0 | 0 |
| V/I | None | None | None | N | 0.121 | 0.081 | 0.162503812791 | gnomAD-4.0.0 | 6.8409E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99321E-07 | 0 | 0 |
| V/L | None | None | None | N | 0.093 | 0.085 | 0.132336055621 | gnomAD-4.0.0 | 6.8409E-07 | None | None | None | None | N | None | 0 | 2.23614E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1429 | likely_benign | 0.1115 | benign | -0.508 | Destabilizing | None | N | 0.116 | neutral | N | 0.495392752 | None | None | N |
| V/C | 0.7704 | likely_pathogenic | 0.6252 | pathogenic | -0.59 | Destabilizing | 0.824 | D | 0.315 | neutral | None | None | None | None | N |
| V/D | 0.3136 | likely_benign | 0.2646 | benign | -0.171 | Destabilizing | 0.317 | N | 0.397 | neutral | N | 0.497033597 | None | None | N |
| V/E | 0.1945 | likely_benign | 0.1809 | benign | -0.288 | Destabilizing | 0.149 | N | 0.375 | neutral | None | None | None | None | N |
| V/F | 0.1547 | likely_benign | 0.1261 | benign | -0.738 | Destabilizing | 0.317 | N | 0.345 | neutral | N | 0.508401146 | None | None | N |
| V/G | 0.2314 | likely_benign | 0.1778 | benign | -0.644 | Destabilizing | 0.062 | N | 0.397 | neutral | N | 0.515155125 | None | None | N |
| V/H | 0.424 | ambiguous | 0.3419 | ambiguous | -0.207 | Destabilizing | 0.935 | D | 0.349 | neutral | None | None | None | None | N |
| V/I | 0.0798 | likely_benign | 0.0729 | benign | -0.303 | Destabilizing | None | N | 0.121 | neutral | N | 0.471076085 | None | None | N |
| V/K | 0.1792 | likely_benign | 0.1503 | benign | -0.348 | Destabilizing | 0.149 | N | 0.378 | neutral | None | None | None | None | N |
| V/L | 0.1719 | likely_benign | 0.1382 | benign | -0.303 | Destabilizing | None | N | 0.093 | neutral | N | 0.488311318 | None | None | N |
| V/M | 0.1222 | likely_benign | 0.1054 | benign | -0.278 | Destabilizing | 0.38 | N | 0.312 | neutral | None | None | None | None | N |
| V/N | 0.2205 | likely_benign | 0.1758 | benign | -0.078 | Destabilizing | 0.38 | N | 0.387 | neutral | None | None | None | None | N |
| V/P | 0.7031 | likely_pathogenic | 0.5902 | pathogenic | -0.336 | Destabilizing | 0.555 | D | 0.37 | neutral | None | None | None | None | N |
| V/Q | 0.2169 | likely_benign | 0.1886 | benign | -0.344 | Destabilizing | 0.555 | D | 0.356 | neutral | None | None | None | None | N |
| V/R | 0.1677 | likely_benign | 0.1327 | benign | 0.17 | Stabilizing | 0.38 | N | 0.381 | neutral | None | None | None | None | N |
| V/S | 0.1698 | likely_benign | 0.135 | benign | -0.478 | Destabilizing | 0.003 | N | 0.199 | neutral | None | None | None | None | N |
| V/T | 0.1529 | likely_benign | 0.125 | benign | -0.493 | Destabilizing | 0.081 | N | 0.224 | neutral | None | None | None | None | N |
| V/W | 0.7907 | likely_pathogenic | 0.6879 | pathogenic | -0.797 | Destabilizing | 0.935 | D | 0.421 | neutral | None | None | None | None | N |
| V/Y | 0.5066 | ambiguous | 0.3904 | ambiguous | -0.487 | Destabilizing | 0.555 | D | 0.324 | neutral | 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.