Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28029 | 84310;84311;84312 | chr2:178562047;178562046;178562045 | chr2:179426774;179426773;179426772 |
| N2AB | 26388 | 79387;79388;79389 | chr2:178562047;178562046;178562045 | chr2:179426774;179426773;179426772 |
| N2A | 25461 | 76606;76607;76608 | chr2:178562047;178562046;178562045 | chr2:179426774;179426773;179426772 |
| N2B | 18964 | 57115;57116;57117 | chr2:178562047;178562046;178562045 | chr2:179426774;179426773;179426772 |
| Novex-1 | 19089 | 57490;57491;57492 | chr2:178562047;178562046;178562045 | chr2:179426774;179426773;179426772 |
| Novex-2 | 19156 | 57691;57692;57693 | chr2:178562047;178562046;178562045 | chr2:179426774;179426773;179426772 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs750468978  |
-0.316 | 0.958 | D | 0.586 | 0.727 | 0.467161347466 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| D/E | rs750468978 |
-0.316 | 0.958 | D | 0.586 | 0.727 | 0.467161347466 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/E | rs750468978 |
-0.316 | 0.958 | D | 0.586 | 0.727 | 0.467161347466 | gnomAD-4.0.0 | 3.84511E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.18071E-06 | 0 | 0 |
| D/G | rs758569836 |
-0.827 | 0.919 | D | 0.679 | 0.854 | 0.6184965563 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.96E-06 | 0 |
| D/G | rs758569836 |
-0.827 | 0.919 | D | 0.679 | 0.854 | 0.6184965563 | gnomAD-4.0.0 | 1.59229E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85907E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9738 | likely_pathogenic | 0.9829 | pathogenic | -0.006 | Destabilizing | 0.919 | D | 0.699 | prob.neutral | D | 0.641318679 | None | None | N |
| D/C | 0.9905 | likely_pathogenic | 0.9942 | pathogenic | 0.148 | Stabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| D/E | 0.9457 | likely_pathogenic | 0.957 | pathogenic | -0.542 | Destabilizing | 0.958 | D | 0.586 | neutral | D | 0.623856327 | None | None | N |
| D/F | 0.9923 | likely_pathogenic | 0.9946 | pathogenic | 0.611 | Stabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| D/G | 0.9711 | likely_pathogenic | 0.9834 | pathogenic | -0.466 | Destabilizing | 0.919 | D | 0.679 | prob.neutral | D | 0.641520483 | None | None | N |
| D/H | 0.9367 | likely_pathogenic | 0.9623 | pathogenic | 0.213 | Stabilizing | 0.999 | D | 0.786 | deleterious | D | 0.562554141 | None | None | N |
| D/I | 0.9917 | likely_pathogenic | 0.9938 | pathogenic | 1.234 | Stabilizing | 0.995 | D | 0.819 | deleterious | None | None | None | None | N |
| D/K | 0.9942 | likely_pathogenic | 0.9965 | pathogenic | 0.027 | Stabilizing | 0.991 | D | 0.773 | deleterious | None | None | None | None | N |
| D/L | 0.9891 | likely_pathogenic | 0.992 | pathogenic | 1.234 | Stabilizing | 0.991 | D | 0.809 | deleterious | None | None | None | None | N |
| D/M | 0.9952 | likely_pathogenic | 0.9963 | pathogenic | 1.701 | Stabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| D/N | 0.8465 | likely_pathogenic | 0.9106 | pathogenic | -0.703 | Destabilizing | 0.958 | D | 0.701 | prob.neutral | D | 0.594432137 | None | None | N |
| D/P | 0.9992 | likely_pathogenic | 0.9995 | pathogenic | 0.85 | Stabilizing | 0.995 | D | 0.784 | deleterious | None | None | None | None | N |
| D/Q | 0.9926 | likely_pathogenic | 0.9953 | pathogenic | -0.396 | Destabilizing | 0.991 | D | 0.779 | deleterious | None | None | None | None | N |
| D/R | 0.9957 | likely_pathogenic | 0.9973 | pathogenic | 0.037 | Stabilizing | 0.991 | D | 0.79 | deleterious | None | None | None | None | N |
| D/S | 0.9582 | likely_pathogenic | 0.9775 | pathogenic | -1.034 | Destabilizing | 0.484 | N | 0.425 | neutral | None | None | None | None | N |
| D/T | 0.9868 | likely_pathogenic | 0.9925 | pathogenic | -0.615 | Destabilizing | 0.982 | D | 0.745 | deleterious | None | None | None | None | N |
| D/V | 0.9763 | likely_pathogenic | 0.9829 | pathogenic | 0.85 | Stabilizing | 0.988 | D | 0.809 | deleterious | D | 0.641924091 | None | None | N |
| D/W | 0.9983 | likely_pathogenic | 0.999 | pathogenic | 0.706 | Stabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| D/Y | 0.9336 | likely_pathogenic | 0.9512 | pathogenic | 0.887 | Stabilizing | 0.999 | D | 0.829 | deleterious | D | 0.641722287 | 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.