Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20840 | 62743;62744;62745 | chr2:178589207;178589206;178589205 | chr2:179453934;179453933;179453932 |
| N2AB | 19199 | 57820;57821;57822 | chr2:178589207;178589206;178589205 | chr2:179453934;179453933;179453932 |
| N2A | 18272 | 55039;55040;55041 | chr2:178589207;178589206;178589205 | chr2:179453934;179453933;179453932 |
| N2B | 11775 | 35548;35549;35550 | chr2:178589207;178589206;178589205 | chr2:179453934;179453933;179453932 |
| Novex-1 | 11900 | 35923;35924;35925 | chr2:178589207;178589206;178589205 | chr2:179453934;179453933;179453932 |
| Novex-2 | 11967 | 36124;36125;36126 | chr2:178589207;178589206;178589205 | chr2:179453934;179453933;179453932 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1326564200  |
-0.577 | 1.0 | D | 0.796 | 0.681 | 0.660233841259 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1326564200 |
-0.577 | 1.0 | D | 0.796 | 0.681 | 0.660233841259 | gnomAD-4.0.0 | 7.959E-06 | None | None | None | None | I | None | 0 | 9.15039E-05 | None | 0 | 0 | None | 0 | 0 | 2.85912E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8251 | likely_pathogenic | 0.8688 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.548699291 | None | None | I |
| G/C | 0.9159 | likely_pathogenic | 0.9442 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.642997423 | None | None | I |
| G/D | 0.969 | likely_pathogenic | 0.9743 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.796 | deleterious | D | 0.610322928 | None | None | I |
| G/E | 0.9835 | likely_pathogenic | 0.9852 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/F | 0.9916 | likely_pathogenic | 0.9928 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| G/H | 0.9922 | likely_pathogenic | 0.9936 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | I |
| G/I | 0.9925 | likely_pathogenic | 0.9929 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| G/K | 0.9916 | likely_pathogenic | 0.9913 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/L | 0.9893 | likely_pathogenic | 0.9902 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| G/M | 0.9912 | likely_pathogenic | 0.9924 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/N | 0.9731 | likely_pathogenic | 0.9777 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| G/Q | 0.9779 | likely_pathogenic | 0.9799 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/R | 0.9782 | likely_pathogenic | 0.9766 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.642795619 | None | None | I |
| G/S | 0.7293 | likely_pathogenic | 0.7938 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.584815177 | None | None | I |
| G/T | 0.9632 | likely_pathogenic | 0.9687 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/V | 0.9842 | likely_pathogenic | 0.9855 | pathogenic | -0.327 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.617459311 | None | None | I |
| G/W | 0.9871 | likely_pathogenic | 0.9888 | pathogenic | -1.284 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9907 | likely_pathogenic | 0.9925 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | 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.