Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26262 | 79009;79010;79011 | chr2:178567348;178567347;178567346 | chr2:179432075;179432074;179432073 |
| N2AB | 24621 | 74086;74087;74088 | chr2:178567348;178567347;178567346 | chr2:179432075;179432074;179432073 |
| N2A | 23694 | 71305;71306;71307 | chr2:178567348;178567347;178567346 | chr2:179432075;179432074;179432073 |
| N2B | 17197 | 51814;51815;51816 | chr2:178567348;178567347;178567346 | chr2:179432075;179432074;179432073 |
| Novex-1 | 17322 | 52189;52190;52191 | chr2:178567348;178567347;178567346 | chr2:179432075;179432074;179432073 |
| Novex-2 | 17389 | 52390;52391;52392 | chr2:178567348;178567347;178567346 | chr2:179432075;179432074;179432073 |
| 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/E | rs775800532  |
-0.137 | 0.997 | D | 0.794 | 0.842 | 0.879013370504 | gnomAD-2.1.1 | 4.28E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.73E-05 | None | 0 | 0 | 0 |
| G/E | rs775800532 |
-0.137 | 0.997 | D | 0.794 | 0.842 | 0.879013370504 | gnomAD-4.0.0 | 6.91331E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.20665E-05 | 0 |
| G/R | rs794729290 |
-0.256 | 0.652 | D | 0.733 | 0.855 | 0.83226486881 | gnomAD-2.1.1 | 8.57E-06 | None | None | None | None | I | None | 0 | 6.35E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs794729290 |
-0.256 | 0.652 | D | 0.733 | 0.855 | 0.83226486881 | gnomAD-4.0.0 | 3.45716E-06 | None | None | None | None | I | None | 0 | 7.20946E-05 | None | 0 | 0 | None | 0 | 0 | 1.8078E-06 | 0 | 0 |
| G/V | None | None | 0.999 | D | 0.761 | 0.834 | 0.948265912597 | gnomAD-4.0.0 | 6.91331E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.03867E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.745 | likely_pathogenic | 0.6667 | pathogenic | -0.683 | Destabilizing | 0.991 | D | 0.795 | deleterious | D | 0.584452647 | None | None | I |
| G/C | 0.8613 | likely_pathogenic | 0.802 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/D | 0.9527 | likely_pathogenic | 0.9328 | pathogenic | -1.014 | Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | I |
| G/E | 0.9658 | likely_pathogenic | 0.9567 | pathogenic | -1.074 | Destabilizing | 0.997 | D | 0.794 | deleterious | D | 0.659945443 | None | None | I |
| G/F | 0.9832 | likely_pathogenic | 0.9762 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/H | 0.9817 | likely_pathogenic | 0.9744 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/I | 0.9849 | likely_pathogenic | 0.979 | pathogenic | -0.307 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/K | 0.9829 | likely_pathogenic | 0.9771 | pathogenic | -1.228 | Destabilizing | 0.996 | D | 0.789 | deleterious | None | None | None | None | I |
| G/L | 0.9799 | likely_pathogenic | 0.9719 | pathogenic | -0.307 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | I |
| G/M | 0.983 | likely_pathogenic | 0.9762 | pathogenic | -0.301 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| G/N | 0.9511 | likely_pathogenic | 0.9341 | pathogenic | -0.916 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9983 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/Q | 0.9485 | likely_pathogenic | 0.9355 | pathogenic | -1.082 | Destabilizing | 0.998 | D | 0.797 | deleterious | None | None | None | None | I |
| G/R | 0.9543 | likely_pathogenic | 0.9394 | pathogenic | -0.925 | Destabilizing | 0.652 | D | 0.733 | prob.delet. | D | 0.659743638 | None | None | I |
| G/S | 0.6187 | likely_pathogenic | 0.5587 | ambiguous | -1.194 | Destabilizing | 0.998 | D | 0.871 | deleterious | None | None | None | None | I |
| G/T | 0.9401 | likely_pathogenic | 0.9184 | pathogenic | -1.163 | Destabilizing | 0.998 | D | 0.794 | deleterious | None | None | None | None | I |
| G/V | 0.9705 | likely_pathogenic | 0.9573 | pathogenic | -0.39 | Destabilizing | 0.999 | D | 0.761 | deleterious | D | 0.627906721 | None | None | I |
| G/W | 0.9821 | likely_pathogenic | 0.9753 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.759 | deleterious | D | 0.660147247 | None | None | I |
| G/Y | 0.9838 | likely_pathogenic | 0.9758 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.8 | 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.