Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22117 | 66574;66575;66576 | chr2:178582020;178582019;178582018 | chr2:179446747;179446746;179446745 |
| N2AB | 20476 | 61651;61652;61653 | chr2:178582020;178582019;178582018 | chr2:179446747;179446746;179446745 |
| N2A | 19549 | 58870;58871;58872 | chr2:178582020;178582019;178582018 | chr2:179446747;179446746;179446745 |
| N2B | 13052 | 39379;39380;39381 | chr2:178582020;178582019;178582018 | chr2:179446747;179446746;179446745 |
| Novex-1 | 13177 | 39754;39755;39756 | chr2:178582020;178582019;178582018 | chr2:179446747;179446746;179446745 |
| Novex-2 | 13244 | 39955;39956;39957 | chr2:178582020;178582019;178582018 | chr2:179446747;179446746;179446745 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs727505036  |
-1.53 | 0.958 | N | 0.674 | 0.294 | 0.290962096972 | gnomAD-2.1.1 | 1.21494E-04 | None | None | None | None | N | None | 0 | 9.61919E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs727505036 |
-1.53 | 0.958 | N | 0.674 | 0.294 | 0.290962096972 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96954E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | rs727505036 |
-1.53 | 0.958 | N | 0.674 | 0.294 | 0.290962096972 | gnomAD-4.0.0 | 2.54153E-05 | None | None | None | None | N | None | 0 | 6.33925E-04 | None | 0 | 2.23244E-05 | None | 0 | 0 | 8.47811E-07 | 0 | 1.60169E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4752 | ambiguous | 0.5185 | ambiguous | -1.07 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| A/D | 0.9539 | likely_pathogenic | 0.951 | pathogenic | -1.894 | Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | N |
| A/E | 0.9104 | likely_pathogenic | 0.903 | pathogenic | -1.736 | Destabilizing | 0.994 | D | 0.787 | deleterious | N | 0.488725798 | None | None | N |
| A/F | 0.7696 | likely_pathogenic | 0.7672 | pathogenic | -0.784 | Destabilizing | 0.991 | D | 0.835 | deleterious | None | None | None | None | N |
| A/G | 0.3282 | likely_benign | 0.352 | ambiguous | -1.501 | Destabilizing | 0.979 | D | 0.64 | neutral | N | 0.465759697 | None | None | N |
| A/H | 0.9542 | likely_pathogenic | 0.9525 | pathogenic | -1.922 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/I | 0.2652 | likely_benign | 0.2731 | benign | 0.163 | Stabilizing | 0.938 | D | 0.712 | prob.delet. | None | None | None | None | N |
| A/K | 0.977 | likely_pathogenic | 0.9761 | pathogenic | -1.314 | Destabilizing | 0.995 | D | 0.795 | deleterious | None | None | None | None | N |
| A/L | 0.3587 | ambiguous | 0.3646 | ambiguous | 0.163 | Stabilizing | 0.938 | D | 0.685 | prob.neutral | None | None | None | None | N |
| A/M | 0.4606 | ambiguous | 0.4583 | ambiguous | 0.04 | Stabilizing | 0.999 | D | 0.837 | deleterious | None | None | None | None | N |
| A/N | 0.8581 | likely_pathogenic | 0.8672 | pathogenic | -1.442 | Destabilizing | 0.998 | D | 0.823 | deleterious | None | None | None | None | N |
| A/P | 0.8884 | likely_pathogenic | 0.8776 | pathogenic | -0.192 | Destabilizing | 0.998 | D | 0.805 | deleterious | N | 0.519326951 | None | None | N |
| A/Q | 0.9085 | likely_pathogenic | 0.9049 | pathogenic | -1.305 | Destabilizing | 0.998 | D | 0.807 | deleterious | None | None | None | None | N |
| A/R | 0.9622 | likely_pathogenic | 0.9595 | pathogenic | -1.325 | Destabilizing | 0.995 | D | 0.801 | deleterious | None | None | None | None | N |
| A/S | 0.2334 | likely_benign | 0.2577 | benign | -1.894 | Destabilizing | 0.979 | D | 0.638 | neutral | N | 0.502914703 | None | None | N |
| A/T | 0.1736 | likely_benign | 0.1893 | benign | -1.6 | Destabilizing | 0.958 | D | 0.674 | neutral | N | 0.503088062 | None | None | N |
| A/V | 0.0982 | likely_benign | 0.1005 | benign | -0.192 | Destabilizing | 0.142 | N | 0.401 | neutral | N | 0.34539013 | None | None | N |
| A/W | 0.9804 | likely_pathogenic | 0.9778 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/Y | 0.8925 | likely_pathogenic | 0.8901 | pathogenic | -0.908 | Destabilizing | 0.995 | D | 0.862 | 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.