Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24870 | 74833;74834;74835 | chr2:178571524;178571523;178571522 | chr2:179436251;179436250;179436249 |
| N2AB | 23229 | 69910;69911;69912 | chr2:178571524;178571523;178571522 | chr2:179436251;179436250;179436249 |
| N2A | 22302 | 67129;67130;67131 | chr2:178571524;178571523;178571522 | chr2:179436251;179436250;179436249 |
| N2B | 15805 | 47638;47639;47640 | chr2:178571524;178571523;178571522 | chr2:179436251;179436250;179436249 |
| Novex-1 | 15930 | 48013;48014;48015 | chr2:178571524;178571523;178571522 | chr2:179436251;179436250;179436249 |
| Novex-2 | 15997 | 48214;48215;48216 | chr2:178571524;178571523;178571522 | chr2:179436251;179436250;179436249 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs768892376  |
-0.353 | 0.983 | N | 0.775 | 0.382 | 0.443797312901 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs768892376 |
-0.353 | 0.983 | N | 0.775 | 0.382 | 0.443797312901 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| A/P | rs768892376 |
-0.353 | 0.983 | N | 0.775 | 0.382 | 0.443797312901 | gnomAD-4.0.0 | 3.71949E-06 | None | None | None | None | N | None | 1.33586E-05 | 0 | None | 0 | 0 | None | 0 | 1.64582E-04 | 2.54327E-06 | 0 | 1.60185E-05 |
| A/S | rs768892376 |
-1.617 | 0.204 | N | 0.368 | 0.195 | 0.245101548738 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| A/S | rs768892376 |
-1.617 | 0.204 | N | 0.368 | 0.195 | 0.245101548738 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/S | rs768892376 |
-1.617 | 0.204 | N | 0.368 | 0.195 | 0.245101548738 | gnomAD-4.0.0 | 3.71949E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08655E-06 | 0 | 0 |
| A/V | None | None | 0.204 | N | 0.401 | 0.282 | 0.202949470691 | gnomAD-4.0.0 | 1.59239E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85959E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4605 | ambiguous | 0.4727 | ambiguous | -0.967 | Destabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | N |
| A/D | 0.9714 | likely_pathogenic | 0.9745 | pathogenic | -1.45 | Destabilizing | 0.967 | D | 0.839 | deleterious | N | 0.492679067 | None | None | N |
| A/E | 0.9393 | likely_pathogenic | 0.9447 | pathogenic | -1.298 | Destabilizing | 0.975 | D | 0.763 | deleterious | None | None | None | None | N |
| A/F | 0.6863 | likely_pathogenic | 0.6595 | pathogenic | -0.647 | Destabilizing | 0.987 | D | 0.852 | deleterious | None | None | None | None | N |
| A/G | 0.4509 | ambiguous | 0.4546 | ambiguous | -1.308 | Destabilizing | 0.805 | D | 0.647 | neutral | N | 0.472507647 | None | None | N |
| A/H | 0.9627 | likely_pathogenic | 0.9646 | pathogenic | -1.686 | Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| A/I | 0.1967 | likely_benign | 0.1915 | benign | 0.319 | Stabilizing | 0.95 | D | 0.736 | prob.delet. | None | None | None | None | N |
| A/K | 0.9841 | likely_pathogenic | 0.9848 | pathogenic | -1.075 | Destabilizing | 0.975 | D | 0.769 | deleterious | None | None | None | None | N |
| A/L | 0.3308 | likely_benign | 0.3184 | benign | 0.319 | Stabilizing | 0.845 | D | 0.702 | prob.neutral | None | None | None | None | N |
| A/M | 0.4502 | ambiguous | 0.4478 | ambiguous | 0.106 | Stabilizing | 0.997 | D | 0.786 | deleterious | None | None | None | None | N |
| A/N | 0.8973 | likely_pathogenic | 0.9029 | pathogenic | -1.196 | Destabilizing | 0.975 | D | 0.838 | deleterious | None | None | None | None | N |
| A/P | 0.8839 | likely_pathogenic | 0.8585 | pathogenic | -0.025 | Destabilizing | 0.983 | D | 0.775 | deleterious | N | 0.472761136 | None | None | N |
| A/Q | 0.9361 | likely_pathogenic | 0.9401 | pathogenic | -1.047 | Destabilizing | 0.975 | D | 0.775 | deleterious | None | None | None | None | N |
| A/R | 0.9687 | likely_pathogenic | 0.9703 | pathogenic | -1.14 | Destabilizing | 0.975 | D | 0.779 | deleterious | None | None | None | None | N |
| A/S | 0.277 | likely_benign | 0.2946 | benign | -1.68 | Destabilizing | 0.204 | N | 0.368 | neutral | N | 0.467227728 | None | None | N |
| A/T | 0.2109 | likely_benign | 0.2162 | benign | -1.38 | Destabilizing | 0.805 | D | 0.642 | neutral | D | 0.522481899 | None | None | N |
| A/V | 0.0884 | likely_benign | 0.0878 | benign | -0.025 | Destabilizing | 0.204 | N | 0.401 | neutral | N | 0.345659488 | None | None | N |
| A/W | 0.9715 | likely_pathogenic | 0.9696 | pathogenic | -1.288 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| A/Y | 0.8779 | likely_pathogenic | 0.8719 | pathogenic | -0.704 | Destabilizing | 0.996 | D | 0.868 | 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.