Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20502 | 61729;61730;61731 | chr2:178590221;178590220;178590219 | chr2:179454948;179454947;179454946 |
| N2AB | 18861 | 56806;56807;56808 | chr2:178590221;178590220;178590219 | chr2:179454948;179454947;179454946 |
| N2A | 17934 | 54025;54026;54027 | chr2:178590221;178590220;178590219 | chr2:179454948;179454947;179454946 |
| N2B | 11437 | 34534;34535;34536 | chr2:178590221;178590220;178590219 | chr2:179454948;179454947;179454946 |
| Novex-1 | 11562 | 34909;34910;34911 | chr2:178590221;178590220;178590219 | chr2:179454948;179454947;179454946 |
| Novex-2 | 11629 | 35110;35111;35112 | chr2:178590221;178590220;178590219 | chr2:179454948;179454947;179454946 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/R | rs773099372  |
-0.5 | 0.999 | D | 0.763 | 0.76 | 0.789728907447 | gnomAD-2.1.1 | 2.98E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.92255E-04 | 0 | 1.76991E-04 |
| G/R | rs773099372 |
-0.5 | 0.999 | D | 0.763 | 0.76 | 0.789728907447 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.42E-05 | 0 | 0 | 0 | 0 |
| G/R | rs773099372 |
-0.5 | 0.999 | D | 0.763 | 0.76 | 0.789728907447 | gnomAD-4.0.0 | 2.2189E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 2.69311E-04 | 0 | 0 | 0 | 0 |
| G/S | None | None | 0.984 | D | 0.645 | 0.694 | 0.576774385015 | gnomAD-4.0.0 | 1.6282E-06 | None | None | None | None | I | None | 0 | 2.35671E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8229 | likely_pathogenic | 0.7864 | pathogenic | -0.37 | Destabilizing | 0.406 | N | 0.318 | neutral | D | 0.559489105 | None | None | I |
| G/C | 0.9737 | likely_pathogenic | 0.982 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.638847025 | None | None | I |
| G/D | 0.9931 | likely_pathogenic | 0.9958 | pathogenic | -0.853 | Destabilizing | 0.999 | D | 0.79 | deleterious | D | 0.605597477 | None | None | I |
| G/E | 0.9962 | likely_pathogenic | 0.998 | pathogenic | -0.981 | Destabilizing | 0.999 | D | 0.759 | deleterious | None | None | None | None | I |
| G/F | 0.9978 | likely_pathogenic | 0.9987 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/H | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -0.808 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | I |
| G/I | 0.9957 | likely_pathogenic | 0.9979 | pathogenic | -0.336 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | I |
| G/K | 0.9991 | likely_pathogenic | 0.9996 | pathogenic | -1.099 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | I |
| G/L | 0.9962 | likely_pathogenic | 0.9976 | pathogenic | -0.336 | Destabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | I |
| G/M | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| G/N | 0.9965 | likely_pathogenic | 0.998 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -0.311 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | I |
| G/Q | 0.9982 | likely_pathogenic | 0.999 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/R | 0.9972 | likely_pathogenic | 0.9985 | pathogenic | -0.674 | Destabilizing | 0.999 | D | 0.763 | deleterious | D | 0.638443417 | None | None | I |
| G/S | 0.9113 | likely_pathogenic | 0.9311 | pathogenic | -0.756 | Destabilizing | 0.984 | D | 0.645 | neutral | D | 0.58026117 | None | None | I |
| G/T | 0.9875 | likely_pathogenic | 0.9926 | pathogenic | -0.818 | Destabilizing | 0.998 | D | 0.757 | deleterious | None | None | None | None | I |
| G/V | 0.9873 | likely_pathogenic | 0.9928 | pathogenic | -0.311 | Destabilizing | 0.998 | D | 0.77 | deleterious | D | 0.612905305 | None | None | I |
| G/W | 0.9959 | likely_pathogenic | 0.9982 | pathogenic | -1.196 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| G/Y | 0.9968 | likely_pathogenic | 0.9982 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | 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.