Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1293 | 4102;4103;4104 | chr2:178779315;178779314;178779313 | chr2:179644042;179644041;179644040 |
| N2AB | 1293 | 4102;4103;4104 | chr2:178779315;178779314;178779313 | chr2:179644042;179644041;179644040 |
| N2A | 1293 | 4102;4103;4104 | chr2:178779315;178779314;178779313 | chr2:179644042;179644041;179644040 |
| N2B | 1247 | 3964;3965;3966 | chr2:178779315;178779314;178779313 | chr2:179644042;179644041;179644040 |
| Novex-1 | 1247 | 3964;3965;3966 | chr2:178779315;178779314;178779313 | chr2:179644042;179644041;179644040 |
| Novex-2 | 1247 | 3964;3965;3966 | chr2:178779315;178779314;178779313 | chr2:179644042;179644041;179644040 |
| Novex-3 | 1293 | 4102;4103;4104 | chr2:178779315;178779314;178779313 | chr2:179644042;179644041;179644040 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | rs747818002  |
None | 1.0 | D | 0.872 | 0.9 | 0.874737625709 | gnomAD-4.0.0 | 1.3687E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79919E-06 | 0 | 0 |
| F/S | rs747818002 |
-1.79 | 1.0 | D | 0.859 | 0.892 | 0.883322413553 | gnomAD-2.1.1 | 4E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.62E-05 | 0 | 0 |
| F/S | rs747818002 |
-1.79 | 1.0 | D | 0.859 | 0.892 | 0.883322413553 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.43E-05 | 0 | 0 | 0 | 0 |
| F/S | rs747818002 |
-1.79 | 1.0 | D | 0.859 | 0.892 | 0.883322413553 | gnomAD-4.0.0 | 3.71891E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 7.8147E-05 | 1.64474E-04 | 0 | 0 | 0 |
| F/Y | None | None | 0.999 | D | 0.646 | 0.702 | 0.661506781955 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
| F/Y | None | None | 0.999 | D | 0.646 | 0.702 | 0.661506781955 | gnomAD-4.0.0 | 6.57307E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78011E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.994 | likely_pathogenic | 0.9925 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| F/C | 0.9898 | likely_pathogenic | 0.9862 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.765558296 | None | None | I |
| F/D | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -2.343 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| F/E | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -2.302 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| F/G | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -2.711 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| F/H | 0.9951 | likely_pathogenic | 0.9942 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| F/I | 0.9149 | likely_pathogenic | 0.8904 | pathogenic | -1.489 | Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.558057867 | None | None | I |
| F/K | 0.9983 | likely_pathogenic | 0.998 | pathogenic | -1.256 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| F/L | 0.9941 | likely_pathogenic | 0.9929 | pathogenic | -1.489 | Destabilizing | 0.999 | D | 0.66 | neutral | D | 0.58110703 | None | None | I |
| F/M | 0.9657 | likely_pathogenic | 0.9565 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| F/N | 0.9955 | likely_pathogenic | 0.9946 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| F/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -1.791 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| F/Q | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -1.568 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | I |
| F/R | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| F/S | 0.9951 | likely_pathogenic | 0.9936 | pathogenic | -1.963 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.765140233 | None | None | I |
| F/T | 0.9942 | likely_pathogenic | 0.9926 | pathogenic | -1.823 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| F/V | 0.9458 | likely_pathogenic | 0.9314 | pathogenic | -1.791 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.661247227 | None | None | I |
| F/W | 0.9249 | likely_pathogenic | 0.9106 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| F/Y | 0.8263 | likely_pathogenic | 0.8055 | pathogenic | -0.861 | Destabilizing | 0.999 | D | 0.646 | neutral | D | 0.690948471 | 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.