Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17120 | 51583;51584;51585 | chr2:178610168;178610167;178610166 | chr2:179474895;179474894;179474893 |
| N2AB | 15479 | 46660;46661;46662 | chr2:178610168;178610167;178610166 | chr2:179474895;179474894;179474893 |
| N2A | 14552 | 43879;43880;43881 | chr2:178610168;178610167;178610166 | chr2:179474895;179474894;179474893 |
| N2B | 8055 | 24388;24389;24390 | chr2:178610168;178610167;178610166 | chr2:179474895;179474894;179474893 |
| Novex-1 | 8180 | 24763;24764;24765 | chr2:178610168;178610167;178610166 | chr2:179474895;179474894;179474893 |
| Novex-2 | 8247 | 24964;24965;24966 | chr2:178610168;178610167;178610166 | chr2:179474895;179474894;179474893 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs376834250  |
-1.76 | 1.0 | D | 0.808 | 0.565 | None | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.35E-05 | 0 |
| R/C | rs376834250 |
-1.76 | 1.0 | D | 0.808 | 0.565 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs376834250 |
-1.76 | 1.0 | D | 0.808 | 0.565 | None | gnomAD-4.0.0 | 1.05408E-05 | None | None | None | None | N | None | 1.20289E-04 | 1.66861E-05 | None | 0 | 2.23604E-05 | None | 0 | 1.64636E-04 | 2.54387E-06 | 1.0981E-05 | 1.60231E-05 |
| R/H | rs778885931 |
-2.249 | 1.0 | N | 0.799 | 0.674 | 0.502068736871 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 6.47E-05 | 8.7E-05 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 8.91E-06 | 0 |
| R/H | rs778885931 |
-2.249 | 1.0 | N | 0.799 | 0.674 | 0.502068736871 | gnomAD-3.1.2 | 4.61E-05 | None | None | None | None | N | None | 9.66E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78469E-04 |
| R/H | rs778885931 |
-2.249 | 1.0 | N | 0.799 | 0.674 | 0.502068736871 | gnomAD-4.0.0 | 3.286E-05 | None | None | None | None | N | None | 6.68074E-05 | 1.5016E-04 | None | 0 | 0 | None | 0 | 0 | 2.96777E-05 | 0 | 6.40923E-05 |
| R/L | None | None | 1.0 | N | 0.727 | 0.712 | 0.663021380872 | gnomAD-4.0.0 | 6.84498E-07 | None | None | None | None | N | None | 0 | 2.23734E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.983 | likely_pathogenic | 0.9927 | pathogenic | -2.101 | Highly Destabilizing | 0.999 | D | 0.621 | neutral | None | None | None | None | N |
| R/C | 0.7567 | likely_pathogenic | 0.8792 | pathogenic | -1.929 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.548477201 | None | None | N |
| R/D | 0.9987 | likely_pathogenic | 0.9994 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/E | 0.9862 | likely_pathogenic | 0.9926 | pathogenic | -1.144 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| R/F | 0.995 | likely_pathogenic | 0.9979 | pathogenic | -1.076 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| R/G | 0.979 | likely_pathogenic | 0.9906 | pathogenic | -2.425 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.548223712 | None | None | N |
| R/H | 0.6537 | likely_pathogenic | 0.8086 | pathogenic | -2.134 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.51062285 | None | None | N |
| R/I | 0.9787 | likely_pathogenic | 0.9902 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| R/K | 0.6025 | likely_pathogenic | 0.7168 | pathogenic | -1.401 | Destabilizing | 0.998 | D | 0.639 | neutral | None | None | None | None | N |
| R/L | 0.9518 | likely_pathogenic | 0.9775 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.521979155 | None | None | N |
| R/M | 0.9786 | likely_pathogenic | 0.9919 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| R/N | 0.9945 | likely_pathogenic | 0.9978 | pathogenic | -1.656 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| R/P | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.548730691 | None | None | N |
| R/Q | 0.6634 | likely_pathogenic | 0.7941 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| R/S | 0.9895 | likely_pathogenic | 0.996 | pathogenic | -2.378 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.498186453 | None | None | N |
| R/T | 0.9868 | likely_pathogenic | 0.9948 | pathogenic | -1.955 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| R/V | 0.9786 | likely_pathogenic | 0.9894 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| R/W | 0.9343 | likely_pathogenic | 0.971 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| R/Y | 0.9838 | likely_pathogenic | 0.9936 | pathogenic | -0.62 | Destabilizing | 1.0 | D | 0.828 | 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.