Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18356 | 55291;55292;55293 | chr2:178602336;178602335;178602334 | chr2:179467063;179467062;179467061 |
| N2AB | 16715 | 50368;50369;50370 | chr2:178602336;178602335;178602334 | chr2:179467063;179467062;179467061 |
| N2A | 15788 | 47587;47588;47589 | chr2:178602336;178602335;178602334 | chr2:179467063;179467062;179467061 |
| N2B | 9291 | 28096;28097;28098 | chr2:178602336;178602335;178602334 | chr2:179467063;179467062;179467061 |
| Novex-1 | 9416 | 28471;28472;28473 | chr2:178602336;178602335;178602334 | chr2:179467063;179467062;179467061 |
| Novex-2 | 9483 | 28672;28673;28674 | chr2:178602336;178602335;178602334 | chr2:179467063;179467062;179467061 |
| 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/A | None | None | 1.0 | D | 0.739 | 0.688 | 0.420199648628 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5604 | ambiguous | 0.631 | pathogenic | -0.579 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.544984936 | None | None | N |
| G/C | 0.7296 | likely_pathogenic | 0.7875 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.557266294 | None | None | N |
| G/D | 0.7565 | likely_pathogenic | 0.8335 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.530261269 | None | None | N |
| G/E | 0.7765 | likely_pathogenic | 0.852 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| G/F | 0.944 | likely_pathogenic | 0.962 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/H | 0.9023 | likely_pathogenic | 0.9395 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/I | 0.9272 | likely_pathogenic | 0.9486 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| G/K | 0.8172 | likely_pathogenic | 0.8862 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/L | 0.9119 | likely_pathogenic | 0.943 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/M | 0.9217 | likely_pathogenic | 0.951 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/N | 0.8339 | likely_pathogenic | 0.8883 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/P | 0.9948 | likely_pathogenic | 0.996 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| G/Q | 0.7999 | likely_pathogenic | 0.8647 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| G/R | 0.7117 | likely_pathogenic | 0.7942 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.544984936 | None | None | N |
| G/S | 0.4294 | ambiguous | 0.5034 | ambiguous | -0.835 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.53840157 | None | None | N |
| G/T | 0.7338 | likely_pathogenic | 0.8086 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/V | 0.8493 | likely_pathogenic | 0.8857 | pathogenic | -0.595 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.523904939 | None | None | N |
| G/W | 0.8888 | likely_pathogenic | 0.9224 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/Y | 0.9093 | likely_pathogenic | 0.9406 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.877 | 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.