Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26792 | 80599;80600;80601 | chr2:178565758;178565757;178565756 | chr2:179430485;179430484;179430483 |
| N2AB | 25151 | 75676;75677;75678 | chr2:178565758;178565757;178565756 | chr2:179430485;179430484;179430483 |
| N2A | 24224 | 72895;72896;72897 | chr2:178565758;178565757;178565756 | chr2:179430485;179430484;179430483 |
| N2B | 17727 | 53404;53405;53406 | chr2:178565758;178565757;178565756 | chr2:179430485;179430484;179430483 |
| Novex-1 | 17852 | 53779;53780;53781 | chr2:178565758;178565757;178565756 | chr2:179430485;179430484;179430483 |
| Novex-2 | 17919 | 53980;53981;53982 | chr2:178565758;178565757;178565756 | chr2:179430485;179430484;179430483 |
| 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/G | None | None | 1.0 | N | 0.816 | 0.561 | 0.821814033924 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| V/M | rs1459115482  |
-0.641 | 1.0 | N | 0.727 | 0.42 | 0.672247646848 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| V/M | rs1459115482 |
-0.641 | 1.0 | N | 0.727 | 0.42 | 0.672247646848 | gnomAD-4.0.0 | 3.18341E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71866E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6079 | likely_pathogenic | 0.584 | pathogenic | -1.469 | Destabilizing | 0.999 | D | 0.527 | neutral | N | 0.517078866 | None | None | N |
| V/C | 0.9007 | likely_pathogenic | 0.9039 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| V/D | 0.9537 | likely_pathogenic | 0.9488 | pathogenic | -1.787 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| V/E | 0.9106 | likely_pathogenic | 0.888 | pathogenic | -1.778 | Destabilizing | 0.999 | D | 0.818 | deleterious | N | 0.50989838 | None | None | N |
| V/F | 0.5971 | likely_pathogenic | 0.5611 | ambiguous | -1.441 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| V/G | 0.7613 | likely_pathogenic | 0.7542 | pathogenic | -1.749 | Destabilizing | 1.0 | D | 0.816 | deleterious | N | 0.500063012 | None | None | N |
| V/H | 0.9624 | likely_pathogenic | 0.9548 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| V/I | 0.0906 | likely_benign | 0.0841 | benign | -0.793 | Destabilizing | 0.983 | D | 0.489 | neutral | None | None | None | None | N |
| V/K | 0.8946 | likely_pathogenic | 0.8786 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| V/L | 0.6077 | likely_pathogenic | 0.5814 | pathogenic | -0.793 | Destabilizing | 0.977 | D | 0.521 | neutral | N | 0.520964533 | None | None | N |
| V/M | 0.4346 | ambiguous | 0.3751 | ambiguous | -0.905 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.506303982 | None | None | N |
| V/N | 0.8679 | likely_pathogenic | 0.847 | pathogenic | -1.135 | Destabilizing | 0.998 | D | 0.846 | deleterious | None | None | None | None | N |
| V/P | 0.9784 | likely_pathogenic | 0.9808 | pathogenic | -0.987 | Destabilizing | 0.998 | D | 0.832 | deleterious | None | None | None | None | N |
| V/Q | 0.8843 | likely_pathogenic | 0.8511 | pathogenic | -1.361 | Destabilizing | 0.999 | D | 0.832 | deleterious | None | None | None | None | N |
| V/R | 0.8561 | likely_pathogenic | 0.8319 | pathogenic | -0.692 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| V/S | 0.7332 | likely_pathogenic | 0.7037 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| V/T | 0.4839 | ambiguous | 0.4451 | ambiguous | -1.546 | Destabilizing | 0.997 | D | 0.601 | neutral | None | None | None | None | N |
| V/W | 0.9847 | likely_pathogenic | 0.9817 | pathogenic | -1.576 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| V/Y | 0.9181 | likely_pathogenic | 0.915 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.827 | 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.