Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27204 | 81835;81836;81837 | chr2:178564522;178564521;178564520 | chr2:179429249;179429248;179429247 |
| N2AB | 25563 | 76912;76913;76914 | chr2:178564522;178564521;178564520 | chr2:179429249;179429248;179429247 |
| N2A | 24636 | 74131;74132;74133 | chr2:178564522;178564521;178564520 | chr2:179429249;179429248;179429247 |
| N2B | 18139 | 54640;54641;54642 | chr2:178564522;178564521;178564520 | chr2:179429249;179429248;179429247 |
| Novex-1 | 18264 | 55015;55016;55017 | chr2:178564522;178564521;178564520 | chr2:179429249;179429248;179429247 |
| Novex-2 | 18331 | 55216;55217;55218 | chr2:178564522;178564521;178564520 | chr2:179429249;179429248;179429247 |
| 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 | None | None | 1.0 | N | 0.887 | 0.523 | 0.631193307288 | gnomAD-4.0.0 | 1.36929E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.53011E-05 | None | 0 | 0 | 8.99781E-07 | 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 | 0.5698 | likely_pathogenic | 0.5234 | ambiguous | -0.648 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.506343662 | None | None | N |
| G/C | 0.8549 | likely_pathogenic | 0.8432 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.52325983 | None | None | N |
| G/D | 0.9853 | likely_pathogenic | 0.9813 | pathogenic | -1.695 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.51367427 | None | None | N |
| G/E | 0.9867 | likely_pathogenic | 0.983 | pathogenic | -1.602 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/F | 0.9907 | likely_pathogenic | 0.989 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/H | 0.985 | likely_pathogenic | 0.9809 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9911 | likely_pathogenic | 0.9906 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/K | 0.9956 | likely_pathogenic | 0.9948 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| G/L | 0.9879 | likely_pathogenic | 0.9857 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| G/M | 0.9891 | likely_pathogenic | 0.9868 | pathogenic | -0.063 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/N | 0.9628 | likely_pathogenic | 0.9499 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/Q | 0.9794 | likely_pathogenic | 0.9741 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/R | 0.9797 | likely_pathogenic | 0.9769 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.887 | deleterious | N | 0.504506784 | None | None | N |
| G/S | 0.4479 | ambiguous | 0.3736 | ambiguous | -1.356 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.48564206 | None | None | N |
| G/T | 0.9067 | likely_pathogenic | 0.8951 | pathogenic | -1.162 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/V | 0.9752 | likely_pathogenic | 0.974 | pathogenic | -0.049 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.556225882 | None | None | N |
| G/W | 0.9843 | likely_pathogenic | 0.9825 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Y | 0.9816 | likely_pathogenic | 0.9784 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.86 | 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.