Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9052 | 27379;27380;27381 | chr2:178712871;178712870;178712869 | chr2:179577598;179577597;179577596 |
| N2AB | 8735 | 26428;26429;26430 | chr2:178712871;178712870;178712869 | chr2:179577598;179577597;179577596 |
| N2A | 7808 | 23647;23648;23649 | chr2:178712871;178712870;178712869 | chr2:179577598;179577597;179577596 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.801 | 0.938 | 0.921798978456 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| W/L | None | None | 1.0 | D | 0.822 | 0.924 | 0.956461217238 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79901E-06 | 0 | 0 |
| W/S | rs769663130  |
-2.906 | 1.0 | D | 0.851 | 0.872 | 0.967615550514 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| W/S | rs769663130 |
-2.906 | 1.0 | D | 0.851 | 0.872 | 0.967615550514 | gnomAD-4.0.0 | 3.42133E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49752E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9827 | likely_pathogenic | 0.992 | pathogenic | -3.197 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| W/C | 0.9865 | likely_pathogenic | 0.994 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.704922769 | None | None | N |
| W/D | 0.9985 | likely_pathogenic | 0.9994 | pathogenic | -3.567 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/E | 0.998 | likely_pathogenic | 0.9993 | pathogenic | -3.449 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| W/F | 0.5691 | likely_pathogenic | 0.663 | pathogenic | -2.027 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| W/G | 0.9463 | likely_pathogenic | 0.9728 | pathogenic | -3.428 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.720740326 | None | None | N |
| W/H | 0.9897 | likely_pathogenic | 0.9953 | pathogenic | -2.466 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| W/I | 0.9391 | likely_pathogenic | 0.9666 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| W/K | 0.9986 | likely_pathogenic | 0.9995 | pathogenic | -2.465 | Highly Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| W/L | 0.8771 | likely_pathogenic | 0.9295 | pathogenic | -2.298 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.704720965 | None | None | N |
| W/M | 0.9781 | likely_pathogenic | 0.9878 | pathogenic | -1.622 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| W/N | 0.9971 | likely_pathogenic | 0.9988 | pathogenic | -3.174 | Highly Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| W/P | 0.9973 | likely_pathogenic | 0.9989 | pathogenic | -2.628 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| W/Q | 0.9981 | likely_pathogenic | 0.9993 | pathogenic | -3.014 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| W/R | 0.9957 | likely_pathogenic | 0.9985 | pathogenic | -2.222 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.72094213 | None | None | N |
| W/S | 0.9708 | likely_pathogenic | 0.9868 | pathogenic | -3.269 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.72094213 | None | None | N |
| W/T | 0.9838 | likely_pathogenic | 0.9925 | pathogenic | -3.077 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| W/V | 0.9402 | likely_pathogenic | 0.9681 | pathogenic | -2.628 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| W/Y | 0.8491 | likely_pathogenic | 0.897 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.806 | 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.