Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20226 | 60901;60902;60903 | chr2:178591049;178591048;178591047 | chr2:179455776;179455775;179455774 |
| N2AB | 18585 | 55978;55979;55980 | chr2:178591049;178591048;178591047 | chr2:179455776;179455775;179455774 |
| N2A | 17658 | 53197;53198;53199 | chr2:178591049;178591048;178591047 | chr2:179455776;179455775;179455774 |
| N2B | 11161 | 33706;33707;33708 | chr2:178591049;178591048;178591047 | chr2:179455776;179455775;179455774 |
| Novex-1 | 11286 | 34081;34082;34083 | chr2:178591049;178591048;178591047 | chr2:179455776;179455775;179455774 |
| Novex-2 | 11353 | 34282;34283;34284 | chr2:178591049;178591048;178591047 | chr2:179455776;179455775;179455774 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | None | None | 0.896 | N | 0.635 | 0.155 | 0.26169431596 | gnomAD-4.0.0 | 1.592E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.8826E-05 | 0 | 0 | 0 | 0 |
| S/T | None | None | 0.016 | N | 0.423 | 0.117 | 0.156986980423 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0999 | likely_benign | 0.1027 | benign | -1.047 | Destabilizing | 0.25 | N | 0.427 | neutral | None | None | None | None | N |
| S/C | 0.0749 | likely_benign | 0.0812 | benign | -0.599 | Destabilizing | 0.009 | N | 0.501 | neutral | N | 0.446274774 | None | None | N |
| S/D | 0.5393 | ambiguous | 0.6606 | pathogenic | 0.497 | Stabilizing | 0.617 | D | 0.649 | neutral | None | None | None | None | N |
| S/E | 0.6503 | likely_pathogenic | 0.7431 | pathogenic | 0.481 | Stabilizing | 0.617 | D | 0.643 | neutral | None | None | None | None | N |
| S/F | 0.2111 | likely_benign | 0.2702 | benign | -1.404 | Destabilizing | 0.85 | D | 0.64 | neutral | None | None | None | None | N |
| S/G | 0.1059 | likely_benign | 0.1219 | benign | -1.241 | Destabilizing | 0.002 | N | 0.188 | neutral | N | 0.433284047 | None | None | N |
| S/H | 0.4005 | ambiguous | 0.4815 | ambiguous | -1.615 | Destabilizing | 0.992 | D | 0.583 | neutral | None | None | None | None | N |
| S/I | 0.1147 | likely_benign | 0.1291 | benign | -0.633 | Destabilizing | 0.009 | N | 0.517 | neutral | N | 0.423840631 | None | None | N |
| S/K | 0.7724 | likely_pathogenic | 0.849 | pathogenic | -0.342 | Destabilizing | 0.617 | D | 0.645 | neutral | None | None | None | None | N |
| S/L | 0.0984 | likely_benign | 0.1154 | benign | -0.633 | Destabilizing | 0.447 | N | 0.601 | neutral | None | None | None | None | N |
| S/M | 0.1861 | likely_benign | 0.2001 | benign | -0.315 | Destabilizing | 0.85 | D | 0.593 | neutral | None | None | None | None | N |
| S/N | 0.1634 | likely_benign | 0.2067 | benign | -0.2 | Destabilizing | 0.549 | D | 0.629 | neutral | N | 0.49429522 | None | None | N |
| S/P | 0.2576 | likely_benign | 0.3567 | ambiguous | -0.742 | Destabilizing | 0.92 | D | 0.629 | neutral | None | None | None | None | N |
| S/Q | 0.5826 | likely_pathogenic | 0.649 | pathogenic | -0.384 | Destabilizing | 0.92 | D | 0.654 | neutral | None | None | None | None | N |
| S/R | 0.7071 | likely_pathogenic | 0.8045 | pathogenic | -0.289 | Destabilizing | 0.896 | D | 0.635 | neutral | N | 0.469554678 | None | None | N |
| S/T | 0.0827 | likely_benign | 0.089 | benign | -0.413 | Destabilizing | 0.016 | N | 0.423 | neutral | N | 0.481310067 | None | None | N |
| S/V | 0.1342 | likely_benign | 0.1436 | benign | -0.742 | Destabilizing | 0.447 | N | 0.6 | neutral | None | None | None | None | N |
| S/W | 0.4053 | ambiguous | 0.4882 | ambiguous | -1.248 | Destabilizing | 0.992 | D | 0.651 | neutral | None | None | None | None | N |
| S/Y | 0.2104 | likely_benign | 0.2676 | benign | -1.013 | Destabilizing | 0.972 | D | 0.614 | 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.