Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24204 | 72835;72836;72837 | chr2:178573522;178573521;178573520 | chr2:179438249;179438248;179438247 |
| N2AB | 22563 | 67912;67913;67914 | chr2:178573522;178573521;178573520 | chr2:179438249;179438248;179438247 |
| N2A | 21636 | 65131;65132;65133 | chr2:178573522;178573521;178573520 | chr2:179438249;179438248;179438247 |
| N2B | 15139 | 45640;45641;45642 | chr2:178573522;178573521;178573520 | chr2:179438249;179438248;179438247 |
| Novex-1 | 15264 | 46015;46016;46017 | chr2:178573522;178573521;178573520 | chr2:179438249;179438248;179438247 |
| Novex-2 | 15331 | 46216;46217;46218 | chr2:178573522;178573521;178573520 | chr2:179438249;179438248;179438247 |
| 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/V | None | None | 1.0 | D | 0.883 | 0.66 | 0.717780772279 | gnomAD-4.0.0 | 1.95259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.11193E-05 | 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 | 0.7763 | likely_pathogenic | 0.8399 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.560979731 | None | None | N |
| G/C | 0.923 | likely_pathogenic | 0.9411 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/D | 0.9664 | likely_pathogenic | 0.9688 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| G/E | 0.9828 | likely_pathogenic | 0.9831 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.554738761 | None | None | N |
| G/F | 0.9918 | likely_pathogenic | 0.9924 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| G/H | 0.9838 | likely_pathogenic | 0.9878 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/I | 0.9874 | likely_pathogenic | 0.9902 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/K | 0.989 | likely_pathogenic | 0.9906 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/L | 0.9801 | likely_pathogenic | 0.9847 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/M | 0.9894 | likely_pathogenic | 0.9919 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/N | 0.972 | likely_pathogenic | 0.9775 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/P | 0.9985 | likely_pathogenic | 0.9988 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/Q | 0.9746 | likely_pathogenic | 0.9778 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/R | 0.9581 | likely_pathogenic | 0.9645 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.549965821 | None | None | N |
| G/S | 0.6857 | likely_pathogenic | 0.7629 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/T | 0.9429 | likely_pathogenic | 0.9591 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| G/V | 0.974 | likely_pathogenic | 0.9798 | pathogenic | -0.488 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.542875476 | None | None | N |
| G/W | 0.9852 | likely_pathogenic | 0.9859 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Y | 0.9867 | likely_pathogenic | 0.9889 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | 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.