Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7494 | 22705;22706;22707 | chr2:178722307;178722306;178722305 | chr2:179587034;179587033;179587032 |
| N2AB | 7177 | 21754;21755;21756 | chr2:178722307;178722306;178722305 | chr2:179587034;179587033;179587032 |
| N2A | 6250 | 18973;18974;18975 | chr2:178722307;178722306;178722305 | chr2:179587034;179587033;179587032 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.998 | D | 0.491 | 0.411 | 0.649418150632 | gnomAD-4.0.0 | 6.85514E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00619E-07 | 0 | 0 |
| S/Y | rs778434653  |
-0.769 | 0.995 | N | 0.585 | 0.405 | 0.776041197187 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 6.51E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.81E-05 | 0 |
| S/Y | rs778434653 |
-0.769 | 0.995 | N | 0.585 | 0.405 | 0.776041197187 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/Y | rs778434653 |
-0.769 | 0.995 | N | 0.585 | 0.405 | 0.776041197187 | gnomAD-4.0.0 | 1.05531E-05 | None | None | None | None | I | None | 1.33668E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.35782E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0911 | likely_benign | 0.0922 | benign | -0.69 | Destabilizing | 0.003 | N | 0.091 | neutral | N | 0.511278763 | None | None | I |
| S/C | 0.1886 | likely_benign | 0.1925 | benign | -0.637 | Destabilizing | 0.998 | D | 0.491 | neutral | D | 0.529222355 | None | None | I |
| S/D | 0.4614 | ambiguous | 0.4736 | ambiguous | -0.869 | Destabilizing | 0.902 | D | 0.373 | neutral | None | None | None | None | I |
| S/E | 0.4848 | ambiguous | 0.4757 | ambiguous | -0.897 | Destabilizing | 0.928 | D | 0.363 | neutral | None | None | None | None | I |
| S/F | 0.1694 | likely_benign | 0.1792 | benign | -1.082 | Destabilizing | 0.989 | D | 0.581 | neutral | N | 0.5111181 | None | None | I |
| S/G | 0.134 | likely_benign | 0.1415 | benign | -0.887 | Destabilizing | 0.876 | D | 0.363 | neutral | None | None | None | None | I |
| S/H | 0.3186 | likely_benign | 0.3311 | benign | -1.464 | Destabilizing | 1.0 | D | 0.49 | neutral | None | None | None | None | I |
| S/I | 0.1889 | likely_benign | 0.1871 | benign | -0.276 | Destabilizing | 0.945 | D | 0.579 | neutral | None | None | None | None | I |
| S/K | 0.5913 | likely_pathogenic | 0.5875 | pathogenic | -0.785 | Destabilizing | 0.972 | D | 0.362 | neutral | None | None | None | None | I |
| S/L | 0.128 | likely_benign | 0.1329 | benign | -0.276 | Destabilizing | 0.711 | D | 0.579 | neutral | None | None | None | None | I |
| S/M | 0.2274 | likely_benign | 0.2309 | benign | 0.125 | Stabilizing | 0.757 | D | 0.407 | neutral | None | None | None | None | I |
| S/N | 0.1596 | likely_benign | 0.1684 | benign | -0.777 | Destabilizing | 0.52 | D | 0.401 | neutral | None | None | None | None | I |
| S/P | 0.92 | likely_pathogenic | 0.947 | pathogenic | -0.383 | Destabilizing | 0.98 | D | 0.461 | neutral | D | 0.540325171 | None | None | I |
| S/Q | 0.4383 | ambiguous | 0.4386 | ambiguous | -1.072 | Destabilizing | 0.996 | D | 0.447 | neutral | None | None | None | None | I |
| S/R | 0.4491 | ambiguous | 0.4575 | ambiguous | -0.564 | Destabilizing | 0.992 | D | 0.461 | neutral | None | None | None | None | I |
| S/T | 0.0782 | likely_benign | 0.0788 | benign | -0.748 | Destabilizing | 0.002 | N | 0.095 | neutral | N | 0.447437928 | None | None | I |
| S/V | 0.1862 | likely_benign | 0.1852 | benign | -0.383 | Destabilizing | 0.728 | D | 0.545 | neutral | None | None | None | None | I |
| S/W | 0.345 | ambiguous | 0.3549 | ambiguous | -1.053 | Destabilizing | 1.0 | D | 0.611 | neutral | None | None | None | None | I |
| S/Y | 0.1913 | likely_benign | 0.1968 | benign | -0.77 | Destabilizing | 0.995 | D | 0.585 | neutral | N | 0.51086461 | None | None | I |
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.