Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21448 | 64567;64568;64569 | chr2:178586559;178586558;178586557 | chr2:179451286;179451285;179451284 |
| N2AB | 19807 | 59644;59645;59646 | chr2:178586559;178586558;178586557 | chr2:179451286;179451285;179451284 |
| N2A | 18880 | 56863;56864;56865 | chr2:178586559;178586558;178586557 | chr2:179451286;179451285;179451284 |
| N2B | 12383 | 37372;37373;37374 | chr2:178586559;178586558;178586557 | chr2:179451286;179451285;179451284 |
| Novex-1 | 12508 | 37747;37748;37749 | chr2:178586559;178586558;178586557 | chr2:179451286;179451285;179451284 |
| Novex-2 | 12575 | 37948;37949;37950 | chr2:178586559;178586558;178586557 | chr2:179451286;179451285;179451284 |
| 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 | None | None | 1.0 | D | 0.747 | 0.631 | 0.620928753958 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8569 | likely_pathogenic | 0.8129 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.524525094 | None | None | I |
| G/C | 0.9685 | likely_pathogenic | 0.9535 | pathogenic | -1.003 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/D | 0.9851 | likely_pathogenic | 0.9798 | pathogenic | -1.12 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/E | 0.9932 | likely_pathogenic | 0.9903 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.878 | deleterious | D | 0.540818923 | None | None | I |
| G/F | 0.9959 | likely_pathogenic | 0.9929 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/H | 0.9953 | likely_pathogenic | 0.9927 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/I | 0.9963 | likely_pathogenic | 0.9941 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/K | 0.9938 | likely_pathogenic | 0.9912 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/L | 0.9926 | likely_pathogenic | 0.9896 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/M | 0.996 | likely_pathogenic | 0.994 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/N | 0.9858 | likely_pathogenic | 0.9815 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | I |
| G/Q | 0.9916 | likely_pathogenic | 0.9888 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/R | 0.9844 | likely_pathogenic | 0.9773 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.536299473 | None | None | I |
| G/S | 0.8709 | likely_pathogenic | 0.829 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/T | 0.9748 | likely_pathogenic | 0.966 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/V | 0.9908 | likely_pathogenic | 0.9856 | pathogenic | -0.603 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.536552962 | None | None | I |
| G/W | 0.9949 | likely_pathogenic | 0.9909 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/Y | 0.9948 | likely_pathogenic | 0.9902 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.874 | 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.