Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27345 | 82258;82259;82260 | chr2:178564099;178564098;178564097 | chr2:179428826;179428825;179428824 |
| N2AB | 25704 | 77335;77336;77337 | chr2:178564099;178564098;178564097 | chr2:179428826;179428825;179428824 |
| N2A | 24777 | 74554;74555;74556 | chr2:178564099;178564098;178564097 | chr2:179428826;179428825;179428824 |
| N2B | 18280 | 55063;55064;55065 | chr2:178564099;178564098;178564097 | chr2:179428826;179428825;179428824 |
| Novex-1 | 18405 | 55438;55439;55440 | chr2:178564099;178564098;178564097 | chr2:179428826;179428825;179428824 |
| Novex-2 | 18472 | 55639;55640;55641 | chr2:178564099;178564098;178564097 | chr2:179428826;179428825;179428824 |
| 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/E | rs745661221  |
-0.377 | 1.0 | D | 0.871 | 0.717 | 0.78405678358 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/E | rs745661221 |
-0.377 | 1.0 | D | 0.871 | 0.717 | 0.78405678358 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.799E-06 | 0 | 0 |
| G/R | rs1304759548 |
-0.278 | 1.0 | D | 0.875 | 0.697 | 0.838672725544 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65728E-04 |
| G/R | rs1304759548 |
-0.278 | 1.0 | D | 0.875 | 0.697 | 0.838672725544 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | I | None | 0 | 2.28634E-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 | 0.5809 | likely_pathogenic | 0.6359 | pathogenic | -0.713 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.592810574 | None | None | I |
| G/C | 0.7766 | likely_pathogenic | 0.8236 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/D | 0.9111 | likely_pathogenic | 0.942 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/E | 0.9377 | likely_pathogenic | 0.9598 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.649033704 | None | None | I |
| G/F | 0.9709 | likely_pathogenic | 0.9808 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/H | 0.9643 | likely_pathogenic | 0.9774 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/I | 0.9612 | likely_pathogenic | 0.9762 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/K | 0.9577 | likely_pathogenic | 0.9715 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/L | 0.9555 | likely_pathogenic | 0.9709 | pathogenic | -0.388 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/M | 0.9629 | likely_pathogenic | 0.9759 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/N | 0.9155 | likely_pathogenic | 0.9404 | pathogenic | -0.812 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| G/P | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/Q | 0.9162 | likely_pathogenic | 0.943 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/R | 0.8987 | likely_pathogenic | 0.9316 | pathogenic | -0.825 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.6488319 | None | None | I |
| G/S | 0.4773 | ambiguous | 0.555 | ambiguous | -1.095 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/T | 0.8808 | likely_pathogenic | 0.9115 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/V | 0.9305 | likely_pathogenic | 0.9538 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.649033704 | None | None | I |
| G/W | 0.9613 | likely_pathogenic | 0.9768 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | I |
| G/Y | 0.9619 | likely_pathogenic | 0.9763 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.816 | 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.