Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28653 | 86182;86183;86184 | chr2:178560175;178560174;178560173 | chr2:179424902;179424901;179424900 |
| N2AB | 27012 | 81259;81260;81261 | chr2:178560175;178560174;178560173 | chr2:179424902;179424901;179424900 |
| N2A | 26085 | 78478;78479;78480 | chr2:178560175;178560174;178560173 | chr2:179424902;179424901;179424900 |
| N2B | 19588 | 58987;58988;58989 | chr2:178560175;178560174;178560173 | chr2:179424902;179424901;179424900 |
| Novex-1 | 19713 | 59362;59363;59364 | chr2:178560175;178560174;178560173 | chr2:179424902;179424901;179424900 |
| Novex-2 | 19780 | 59563;59564;59565 | chr2:178560175;178560174;178560173 | chr2:179424902;179424901;179424900 |
| 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 | 0.986 | N | 0.669 | 0.457 | 0.589755004127 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | N | None | 5.65483E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1703124893  |
None | 0.949 | N | 0.757 | 0.525 | 0.674832526739 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs1703124893 |
None | 0.949 | N | 0.757 | 0.525 | 0.674832526739 | gnomAD-4.0.0 | 6.57436E-06 | None | None | None | None | N | None | 0 | 6.54879E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.2557 | likely_benign | 0.1785 | benign | -0.81 | Destabilizing | 0.008 | N | 0.371 | neutral | N | 0.498245176 | None | None | N |
| S/C | 0.4402 | ambiguous | 0.3555 | ambiguous | -0.684 | Destabilizing | 0.986 | D | 0.669 | neutral | N | 0.504105618 | None | None | N |
| S/D | 0.9569 | likely_pathogenic | 0.9392 | pathogenic | -0.792 | Destabilizing | 0.875 | D | 0.581 | neutral | None | None | None | None | N |
| S/E | 0.9753 | likely_pathogenic | 0.964 | pathogenic | -0.758 | Destabilizing | 0.775 | D | 0.559 | neutral | None | None | None | None | N |
| S/F | 0.8063 | likely_pathogenic | 0.6984 | pathogenic | -0.851 | Destabilizing | 0.949 | D | 0.757 | deleterious | N | 0.492495823 | None | None | N |
| S/G | 0.1983 | likely_benign | 0.16 | benign | -1.083 | Destabilizing | 0.633 | D | 0.542 | neutral | None | None | None | None | N |
| S/H | 0.9092 | likely_pathogenic | 0.885 | pathogenic | -1.539 | Destabilizing | 0.996 | D | 0.67 | neutral | None | None | None | None | N |
| S/I | 0.8834 | likely_pathogenic | 0.8152 | pathogenic | -0.177 | Destabilizing | 0.923 | D | 0.746 | deleterious | None | None | None | None | N |
| S/K | 0.9945 | likely_pathogenic | 0.9914 | pathogenic | -0.797 | Destabilizing | 0.775 | D | 0.567 | neutral | None | None | None | None | N |
| S/L | 0.4897 | ambiguous | 0.3502 | ambiguous | -0.177 | Destabilizing | 0.633 | D | 0.737 | prob.delet. | None | None | None | None | N |
| S/M | 0.6784 | likely_pathogenic | 0.5667 | pathogenic | 0.026 | Stabilizing | 0.996 | D | 0.671 | neutral | None | None | None | None | N |
| S/N | 0.7661 | likely_pathogenic | 0.6846 | pathogenic | -0.879 | Destabilizing | 0.961 | D | 0.583 | neutral | None | None | None | None | N |
| S/P | 0.9508 | likely_pathogenic | 0.9293 | pathogenic | -0.355 | Destabilizing | 0.008 | N | 0.519 | neutral | N | 0.499035827 | None | None | N |
| S/Q | 0.95 | likely_pathogenic | 0.934 | pathogenic | -1.016 | Destabilizing | 0.961 | D | 0.577 | neutral | None | None | None | None | N |
| S/R | 0.9919 | likely_pathogenic | 0.9878 | pathogenic | -0.741 | Destabilizing | 0.923 | D | 0.671 | neutral | None | None | None | None | N |
| S/T | 0.4954 | ambiguous | 0.3676 | ambiguous | -0.818 | Destabilizing | 0.722 | D | 0.537 | neutral | N | 0.491228375 | None | None | N |
| S/V | 0.8388 | likely_pathogenic | 0.7438 | pathogenic | -0.355 | Destabilizing | 0.633 | D | 0.743 | deleterious | None | None | None | None | N |
| S/W | 0.9074 | likely_pathogenic | 0.8783 | pathogenic | -0.861 | Destabilizing | 0.996 | D | 0.78 | deleterious | None | None | None | None | N |
| S/Y | 0.7846 | likely_pathogenic | 0.7084 | pathogenic | -0.576 | Destabilizing | 0.983 | D | 0.765 | deleterious | N | 0.503598639 | 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.