Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31678 | 95257;95258;95259 | chr2:178546299;178546298;178546297 | chr2:179411026;179411025;179411024 |
| N2AB | 30037 | 90334;90335;90336 | chr2:178546299;178546298;178546297 | chr2:179411026;179411025;179411024 |
| N2A | 29110 | 87553;87554;87555 | chr2:178546299;178546298;178546297 | chr2:179411026;179411025;179411024 |
| N2B | 22613 | 68062;68063;68064 | chr2:178546299;178546298;178546297 | chr2:179411026;179411025;179411024 |
| Novex-1 | 22738 | 68437;68438;68439 | chr2:178546299;178546298;178546297 | chr2:179411026;179411025;179411024 |
| Novex-2 | 22805 | 68638;68639;68640 | chr2:178546299;178546298;178546297 | chr2:179411026;179411025;179411024 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs2555818  |
None | 1.0 | N | 0.802 | 0.729 | 0.863481631396 | gnomAD-4.0.0 | 1.59126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | N | 0.803 | 0.529 | 0.794249481724 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5952 | likely_pathogenic | 0.6511 | pathogenic | -0.585 | Destabilizing | 0.998 | D | 0.547 | neutral | None | None | None | None | N |
| C/D | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -1.342 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| C/F | 0.9723 | likely_pathogenic | 0.9781 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.533038114 | None | None | N |
| C/G | 0.6948 | likely_pathogenic | 0.7254 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.765 | deleterious | D | 0.533384831 | None | None | N |
| C/H | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| C/I | 0.8802 | likely_pathogenic | 0.9117 | pathogenic | -0.027 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| C/K | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -0.295 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| C/L | 0.8563 | likely_pathogenic | 0.8952 | pathogenic | -0.027 | Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| C/M | 0.9545 | likely_pathogenic | 0.9657 | pathogenic | 0.294 | Stabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| C/N | 0.987 | likely_pathogenic | 0.9885 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| C/P | 0.9884 | likely_pathogenic | 0.9899 | pathogenic | -0.186 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| C/Q | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| C/R | 0.993 | likely_pathogenic | 0.993 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.802 | deleterious | N | 0.498365762 | None | None | N |
| C/S | 0.663 | likely_pathogenic | 0.7039 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.431585828 | None | None | N |
| C/T | 0.7314 | likely_pathogenic | 0.7698 | pathogenic | -0.492 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| C/V | 0.7065 | likely_pathogenic | 0.7689 | pathogenic | -0.186 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | N |
| C/W | 0.9963 | likely_pathogenic | 0.9966 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.498619251 | None | None | N |
| C/Y | 0.9946 | likely_pathogenic | 0.9954 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.803 | deleterious | N | 0.498365762 | 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.