Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26766 | 80521;80522;80523 | chr2:178565836;178565835;178565834 | chr2:179430563;179430562;179430561 |
| N2AB | 25125 | 75598;75599;75600 | chr2:178565836;178565835;178565834 | chr2:179430563;179430562;179430561 |
| N2A | 24198 | 72817;72818;72819 | chr2:178565836;178565835;178565834 | chr2:179430563;179430562;179430561 |
| N2B | 17701 | 53326;53327;53328 | chr2:178565836;178565835;178565834 | chr2:179430563;179430562;179430561 |
| Novex-1 | 17826 | 53701;53702;53703 | chr2:178565836;178565835;178565834 | chr2:179430563;179430562;179430561 |
| Novex-2 | 17893 | 53902;53903;53904 | chr2:178565836;178565835;178565834 | chr2:179430563;179430562;179430561 |
| 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/A | rs753017013  |
-0.617 | 1.0 | D | 0.697 | 0.804 | 0.511735687887 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.67038E-04 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs753017013 |
-0.617 | 1.0 | D | 0.697 | 0.804 | 0.511735687887 | gnomAD-4.0.0 | 6.84276E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.51953E-05 | None | 0 | 0 | 0 | 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 | 0.8101 | likely_pathogenic | 0.7924 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.560654244 | None | None | I |
| G/C | 0.9636 | likely_pathogenic | 0.9664 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.561668202 | None | None | I |
| G/D | 0.995 | likely_pathogenic | 0.9948 | pathogenic | -1.862 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.549804918 | None | None | I |
| G/E | 0.9964 | likely_pathogenic | 0.9968 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/F | 0.9978 | likely_pathogenic | 0.9985 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| G/H | 0.9981 | likely_pathogenic | 0.9983 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/I | 0.9968 | likely_pathogenic | 0.9975 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/K | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.9956 | likely_pathogenic | 0.9963 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/M | 0.9971 | likely_pathogenic | 0.9971 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/N | 0.9936 | likely_pathogenic | 0.9944 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9995 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/Q | 0.9972 | likely_pathogenic | 0.9976 | pathogenic | -1.454 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| G/R | 0.9962 | likely_pathogenic | 0.9975 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.914 | deleterious | D | 0.560147265 | None | None | I |
| G/S | 0.7236 | likely_pathogenic | 0.5662 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.526434642 | None | None | I |
| G/T | 0.9704 | likely_pathogenic | 0.9644 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | I |
| G/V | 0.9913 | likely_pathogenic | 0.9931 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.561161223 | None | None | I |
| G/W | 0.996 | likely_pathogenic | 0.9969 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Y | 0.9974 | likely_pathogenic | 0.9982 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.869 | deleterious | 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.