Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6208 | 18847;18848;18849 | chr2:178729534;178729533;178729532 | chr2:179594261;179594260;179594259 |
| N2AB | 5891 | 17896;17897;17898 | chr2:178729534;178729533;178729532 | chr2:179594261;179594260;179594259 |
| N2A | 4964 | 15115;15116;15117 | chr2:178729534;178729533;178729532 | chr2:179594261;179594260;179594259 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/L | rs759379332  |
-0.359 | 0.001 | N | 0.118 | 0.273 | 0.284150004643 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/L | rs759379332 |
-0.359 | 0.001 | N | 0.118 | 0.273 | 0.284150004643 | gnomAD-4.0.0 | 1.59263E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43357E-05 | 0 |
| V/M | rs759379332 |
-0.393 | 0.655 | D | 0.416 | 0.385 | 0.430579932962 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 0 | 0 |
| V/M | rs759379332 |
-0.393 | 0.655 | D | 0.416 | 0.385 | 0.430579932962 | gnomAD-4.0.0 | 1.2741E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.14685E-04 | 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 | 0.079 | likely_benign | 0.0894 | benign | -1.313 | Destabilizing | None | N | 0.088 | neutral | N | 0.462124953 | None | None | N |
| V/C | 0.6037 | likely_pathogenic | 0.6636 | pathogenic | -0.908 | Destabilizing | 0.836 | D | 0.407 | neutral | None | None | None | None | N |
| V/D | 0.2405 | likely_benign | 0.3188 | benign | -1.205 | Destabilizing | 0.418 | N | 0.533 | neutral | None | None | None | None | N |
| V/E | 0.1616 | likely_benign | 0.2047 | benign | -1.207 | Destabilizing | 0.213 | N | 0.462 | neutral | D | 0.526888507 | None | None | N |
| V/F | 0.1405 | likely_benign | 0.1651 | benign | -0.992 | Destabilizing | 0.716 | D | 0.425 | neutral | None | None | None | None | N |
| V/G | 0.1487 | likely_benign | 0.1877 | benign | -1.624 | Destabilizing | 0.213 | N | 0.477 | neutral | N | 0.50492049 | None | None | N |
| V/H | 0.4043 | ambiguous | 0.4621 | ambiguous | -1.265 | Destabilizing | 0.951 | D | 0.486 | neutral | None | None | None | None | N |
| V/I | 0.0776 | likely_benign | 0.0815 | benign | -0.563 | Destabilizing | 0.129 | N | 0.376 | neutral | None | None | None | None | N |
| V/K | 0.1741 | likely_benign | 0.2003 | benign | -1.264 | Destabilizing | 0.264 | N | 0.451 | neutral | None | None | None | None | N |
| V/L | 0.142 | likely_benign | 0.1589 | benign | -0.563 | Destabilizing | 0.001 | N | 0.118 | neutral | N | 0.467818774 | None | None | N |
| V/M | 0.0975 | likely_benign | 0.0991 | benign | -0.469 | Destabilizing | 0.655 | D | 0.416 | neutral | D | 0.524578921 | None | None | N |
| V/N | 0.2048 | likely_benign | 0.257 | benign | -1.042 | Destabilizing | 0.716 | D | 0.521 | neutral | None | None | None | None | N |
| V/P | 0.6561 | likely_pathogenic | 0.7793 | pathogenic | -0.778 | Destabilizing | 0.836 | D | 0.491 | neutral | None | None | None | None | N |
| V/Q | 0.1789 | likely_benign | 0.2047 | benign | -1.184 | Destabilizing | 0.022 | N | 0.333 | neutral | None | None | None | None | N |
| V/R | 0.1593 | likely_benign | 0.1827 | benign | -0.782 | Destabilizing | 0.557 | D | 0.527 | neutral | None | None | None | None | N |
| V/S | 0.1274 | likely_benign | 0.1487 | benign | -1.508 | Destabilizing | 0.129 | N | 0.411 | neutral | None | None | None | None | N |
| V/T | 0.0884 | likely_benign | 0.0951 | benign | -1.401 | Destabilizing | 0.01 | N | 0.171 | neutral | None | None | None | None | N |
| V/W | 0.6583 | likely_pathogenic | 0.7341 | pathogenic | -1.217 | Destabilizing | 0.983 | D | 0.522 | neutral | None | None | None | None | N |
| V/Y | 0.4334 | ambiguous | 0.5001 | ambiguous | -0.916 | Destabilizing | 0.94 | D | 0.419 | 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.