Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19856 | 59791;59792;59793 | chr2:178592439;178592438;178592437 | chr2:179457166;179457165;179457164 |
| N2AB | 18215 | 54868;54869;54870 | chr2:178592439;178592438;178592437 | chr2:179457166;179457165;179457164 |
| N2A | 17288 | 52087;52088;52089 | chr2:178592439;178592438;178592437 | chr2:179457166;179457165;179457164 |
| N2B | 10791 | 32596;32597;32598 | chr2:178592439;178592438;178592437 | chr2:179457166;179457165;179457164 |
| Novex-1 | 10916 | 32971;32972;32973 | chr2:178592439;178592438;178592437 | chr2:179457166;179457165;179457164 |
| Novex-2 | 10983 | 33172;33173;33174 | chr2:178592439;178592438;178592437 | chr2:179457166;179457165;179457164 |
| 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/F | None | None | 0.998 | N | 0.762 | 0.495 | 0.537034694273 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43332E-05 | 0 |
| S/Y | rs1356252369  |
-0.839 | 0.998 | N | 0.759 | 0.426 | 0.50143340055 | 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 |
| S/Y | rs1356252369 |
-0.839 | 0.998 | N | 0.759 | 0.426 | 0.50143340055 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1186 | likely_benign | 0.1161 | benign | -0.864 | Destabilizing | 0.91 | D | 0.462 | neutral | N | 0.477295822 | None | None | N |
| S/C | 0.1103 | likely_benign | 0.1033 | benign | -0.704 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.460656091 | None | None | N |
| S/D | 0.7016 | likely_pathogenic | 0.7133 | pathogenic | -1.475 | Destabilizing | 0.985 | D | 0.656 | neutral | None | None | None | None | N |
| S/E | 0.6907 | likely_pathogenic | 0.7093 | pathogenic | -1.283 | Destabilizing | 0.985 | D | 0.659 | neutral | None | None | None | None | N |
| S/F | 0.2562 | likely_benign | 0.2268 | benign | -0.834 | Destabilizing | 0.998 | D | 0.762 | deleterious | N | 0.456515035 | None | None | N |
| S/G | 0.1974 | likely_benign | 0.2087 | benign | -1.246 | Destabilizing | 0.985 | D | 0.648 | neutral | None | None | None | None | N |
| S/H | 0.3591 | ambiguous | 0.3744 | ambiguous | -1.635 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| S/I | 0.231 | likely_benign | 0.2123 | benign | 0.106 | Stabilizing | 0.991 | D | 0.746 | deleterious | None | None | None | None | N |
| S/K | 0.7925 | likely_pathogenic | 0.8086 | pathogenic | -0.132 | Destabilizing | 0.97 | D | 0.659 | neutral | None | None | None | None | N |
| S/L | 0.1445 | likely_benign | 0.1284 | benign | 0.106 | Stabilizing | 0.97 | D | 0.725 | prob.delet. | None | None | None | None | N |
| S/M | 0.2358 | likely_benign | 0.2135 | benign | 0.02 | Stabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| S/N | 0.2571 | likely_benign | 0.2303 | benign | -0.858 | Destabilizing | 0.985 | D | 0.649 | neutral | None | None | None | None | N |
| S/P | 0.9792 | likely_pathogenic | 0.9847 | pathogenic | -0.183 | Destabilizing | 0.998 | D | 0.763 | deleterious | N | 0.487154137 | None | None | N |
| S/Q | 0.552 | ambiguous | 0.5788 | pathogenic | -0.645 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | None | None | None | None | N |
| S/R | 0.6826 | likely_pathogenic | 0.7158 | pathogenic | -0.533 | Destabilizing | 0.996 | D | 0.759 | deleterious | None | None | None | None | N |
| S/T | 0.0838 | likely_benign | 0.0788 | benign | -0.525 | Destabilizing | 0.044 | N | 0.258 | neutral | N | 0.389364619 | None | None | N |
| S/V | 0.2258 | likely_benign | 0.2154 | benign | -0.183 | Destabilizing | 0.97 | D | 0.722 | prob.delet. | None | None | None | None | N |
| S/W | 0.4033 | ambiguous | 0.4282 | ambiguous | -1.073 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| S/Y | 0.2223 | likely_benign | 0.2137 | benign | -0.609 | Destabilizing | 0.998 | D | 0.759 | deleterious | N | 0.502172837 | 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.