Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1359 | 4300;4301;4302 | chr2:178779007;178779006;178779005 | chr2:179643734;179643733;179643732 |
| N2AB | 1359 | 4300;4301;4302 | chr2:178779007;178779006;178779005 | chr2:179643734;179643733;179643732 |
| N2A | 1359 | 4300;4301;4302 | chr2:178779007;178779006;178779005 | chr2:179643734;179643733;179643732 |
| N2B | 1313 | 4162;4163;4164 | chr2:178779007;178779006;178779005 | chr2:179643734;179643733;179643732 |
| Novex-1 | 1313 | 4162;4163;4164 | chr2:178779007;178779006;178779005 | chr2:179643734;179643733;179643732 |
| Novex-2 | 1313 | 4162;4163;4164 | chr2:178779007;178779006;178779005 | chr2:179643734;179643733;179643732 |
| Novex-3 | 1359 | 4300;4301;4302 | chr2:178779007;178779006;178779005 | chr2:179643734;179643733;179643732 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs370978752  |
-1.327 | 1.0 | N | 0.776 | 0.687 | None | gnomAD-2.1.1 | 5.32E-05 | None | None | None | None | N | None | 0 | 2.82E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.08939E-04 | 0 |
| E/G | rs370978752 |
-1.327 | 1.0 | N | 0.776 | 0.687 | None | gnomAD-3.1.2 | 6.6E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/G | rs370978752 |
-1.327 | 1.0 | N | 0.776 | 0.687 | None | gnomAD-4.0.0 | 4.21509E-05 | None | None | None | None | N | None | 0 | 5.00584E-05 | None | 0 | 0 | None | 0 | 4.93259E-04 | 4.83156E-05 | 2.19693E-05 | 4.80261E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5288 | ambiguous | 0.5606 | ambiguous | -0.936 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | N | 0.435613301 | None | None | N |
| E/C | 0.9916 | likely_pathogenic | 0.9924 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/D | 0.8065 | likely_pathogenic | 0.7924 | pathogenic | -1.254 | Destabilizing | 0.999 | D | 0.502 | neutral | N | 0.469206115 | None | None | N |
| E/F | 0.9959 | likely_pathogenic | 0.997 | pathogenic | -0.223 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| E/G | 0.6526 | likely_pathogenic | 0.6871 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.776 | deleterious | N | 0.506232276 | None | None | N |
| E/H | 0.9753 | likely_pathogenic | 0.9794 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | N |
| E/I | 0.9686 | likely_pathogenic | 0.9789 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| E/K | 0.7325 | likely_pathogenic | 0.7906 | pathogenic | -0.758 | Destabilizing | 0.999 | D | 0.601 | neutral | N | 0.505681697 | None | None | N |
| E/L | 0.9739 | likely_pathogenic | 0.9828 | pathogenic | 0.236 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| E/M | 0.9538 | likely_pathogenic | 0.9644 | pathogenic | 0.801 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| E/N | 0.8986 | likely_pathogenic | 0.9111 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| E/P | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| E/Q | 0.5333 | ambiguous | 0.5968 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.633 | neutral | N | 0.508475195 | None | None | N |
| E/R | 0.8366 | likely_pathogenic | 0.8788 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| E/S | 0.6728 | likely_pathogenic | 0.6635 | pathogenic | -1.736 | Destabilizing | 0.999 | D | 0.654 | neutral | None | None | None | None | N |
| E/T | 0.7896 | likely_pathogenic | 0.813 | pathogenic | -1.372 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| E/V | 0.8996 | likely_pathogenic | 0.9274 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.517557822 | None | None | N |
| E/W | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | 0.04 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| E/Y | 0.992 | likely_pathogenic | 0.994 | pathogenic | 0.048 | Stabilizing | 1.0 | D | 0.81 | 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.