Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29908 | 89947;89948;89949 | chr2:178553178;178553177;178553176 | chr2:179417905;179417904;179417903 |
| N2AB | 28267 | 85024;85025;85026 | chr2:178553178;178553177;178553176 | chr2:179417905;179417904;179417903 |
| N2A | 27340 | 82243;82244;82245 | chr2:178553178;178553177;178553176 | chr2:179417905;179417904;179417903 |
| N2B | 20843 | 62752;62753;62754 | chr2:178553178;178553177;178553176 | chr2:179417905;179417904;179417903 |
| Novex-1 | 20968 | 63127;63128;63129 | chr2:178553178;178553177;178553176 | chr2:179417905;179417904;179417903 |
| Novex-2 | 21035 | 63328;63329;63330 | chr2:178553178;178553177;178553176 | chr2:179417905;179417904;179417903 |
| 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 | rs765712246  |
None | 1.0 | D | 0.797 | 0.817 | 0.880658211961 | gnomAD-4.0.0 | 6.84228E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99476E-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 | 0.7264 | likely_pathogenic | 0.7157 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.569826274 | None | None | N |
| G/C | 0.9192 | likely_pathogenic | 0.9198 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| G/D | 0.9607 | likely_pathogenic | 0.9584 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/E | 0.9779 | likely_pathogenic | 0.9769 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.661570595 | None | None | N |
| G/F | 0.9946 | likely_pathogenic | 0.9941 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/H | 0.9919 | likely_pathogenic | 0.9909 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/I | 0.9934 | likely_pathogenic | 0.9936 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| G/K | 0.9885 | likely_pathogenic | 0.9878 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/L | 0.9886 | likely_pathogenic | 0.9874 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/M | 0.9915 | likely_pathogenic | 0.991 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/N | 0.9736 | likely_pathogenic | 0.9694 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Q | 0.9712 | likely_pathogenic | 0.969 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/R | 0.9647 | likely_pathogenic | 0.9633 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.645117265 | None | None | N |
| G/S | 0.6743 | likely_pathogenic | 0.6617 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/T | 0.9578 | likely_pathogenic | 0.9559 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/V | 0.9805 | likely_pathogenic | 0.9813 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.661570595 | None | None | N |
| G/W | 0.9891 | likely_pathogenic | 0.9877 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| G/Y | 0.9928 | likely_pathogenic | 0.9914 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.743 | 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.