Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18857 | 56794;56795;56796 | chr2:178599224;178599223;178599222 | chr2:179463951;179463950;179463949 |
| N2AB | 17216 | 51871;51872;51873 | chr2:178599224;178599223;178599222 | chr2:179463951;179463950;179463949 |
| N2A | 16289 | 49090;49091;49092 | chr2:178599224;178599223;178599222 | chr2:179463951;179463950;179463949 |
| N2B | 9792 | 29599;29600;29601 | chr2:178599224;178599223;178599222 | chr2:179463951;179463950;179463949 |
| Novex-1 | 9917 | 29974;29975;29976 | chr2:178599224;178599223;178599222 | chr2:179463951;179463950;179463949 |
| Novex-2 | 9984 | 30175;30176;30177 | chr2:178599224;178599223;178599222 | chr2:179463951;179463950;179463949 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/C | None | None | 0.997 | D | 0.839 | 0.562 | 0.868104388563 | gnomAD-4.0.0 | 1.44558E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.16742E-05 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs771676699  |
-1.377 | 0.247 | N | 0.675 | 0.436 | 0.594113984522 | gnomAD-2.1.1 | 5.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.1E-05 | 0 |
| F/L | rs771676699 |
-1.377 | 0.247 | N | 0.675 | 0.436 | 0.594113984522 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs771676699 |
-1.377 | 0.247 | N | 0.675 | 0.436 | 0.594113984522 | gnomAD-4.0.0 | 1.44732E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.28012E-07 | 1.44467E-05 | 0 |
| F/S | None | None | 0.971 | D | 0.85 | 0.648 | 0.864674026043 | gnomAD-4.0.0 | 7.22788E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.27269E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9917 | likely_pathogenic | 0.9894 | pathogenic | -1.757 | Destabilizing | 0.86 | D | 0.841 | deleterious | None | None | None | None | N |
| F/C | 0.914 | likely_pathogenic | 0.901 | pathogenic | -0.978 | Destabilizing | 0.997 | D | 0.839 | deleterious | D | 0.546150251 | None | None | N |
| F/D | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.79 | Highly Destabilizing | 0.993 | D | 0.845 | deleterious | None | None | None | None | N |
| F/E | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.543 | Highly Destabilizing | 0.993 | D | 0.849 | deleterious | None | None | None | None | N |
| F/G | 0.9973 | likely_pathogenic | 0.9968 | pathogenic | -2.204 | Highly Destabilizing | 0.978 | D | 0.855 | deleterious | None | None | None | None | N |
| F/H | 0.9949 | likely_pathogenic | 0.9935 | pathogenic | -1.854 | Destabilizing | 0.998 | D | 0.788 | deleterious | None | None | None | None | N |
| F/I | 0.7714 | likely_pathogenic | 0.7453 | pathogenic | -0.296 | Destabilizing | 0.032 | N | 0.345 | neutral | N | 0.484614875 | None | None | N |
| F/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.82 | Destabilizing | 0.978 | D | 0.845 | deleterious | None | None | None | None | N |
| F/L | 0.9808 | likely_pathogenic | 0.9811 | pathogenic | -0.296 | Destabilizing | 0.247 | N | 0.675 | neutral | N | 0.499542806 | None | None | N |
| F/M | 0.9332 | likely_pathogenic | 0.9182 | pathogenic | -0.153 | Destabilizing | 0.956 | D | 0.717 | prob.delet. | None | None | None | None | N |
| F/N | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -2.595 | Highly Destabilizing | 0.993 | D | 0.872 | deleterious | None | None | None | None | N |
| F/P | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -0.796 | Destabilizing | 0.993 | D | 0.877 | deleterious | None | None | None | None | N |
| F/Q | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -2.207 | Highly Destabilizing | 0.998 | D | 0.874 | deleterious | None | None | None | None | N |
| F/R | 0.9988 | likely_pathogenic | 0.9983 | pathogenic | -2.083 | Highly Destabilizing | 0.993 | D | 0.879 | deleterious | None | None | None | None | N |
| F/S | 0.9954 | likely_pathogenic | 0.9944 | pathogenic | -2.889 | Highly Destabilizing | 0.971 | D | 0.85 | deleterious | D | 0.546150251 | None | None | N |
| F/T | 0.9937 | likely_pathogenic | 0.9911 | pathogenic | -2.51 | Highly Destabilizing | 0.956 | D | 0.835 | deleterious | None | None | None | None | N |
| F/V | 0.7664 | likely_pathogenic | 0.7118 | pathogenic | -0.796 | Destabilizing | 0.444 | N | 0.791 | deleterious | N | 0.487395898 | None | None | N |
| F/W | 0.9222 | likely_pathogenic | 0.9194 | pathogenic | -0.143 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| F/Y | 0.7448 | likely_pathogenic | 0.7389 | pathogenic | -0.455 | Destabilizing | 0.904 | D | 0.614 | neutral | N | 0.481847079 | 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.