Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35431 | 106516;106517;106518 | chr2:178530324;178530323;178530322 | chr2:179395051;179395050;179395049 |
| N2AB | 33790 | 101593;101594;101595 | chr2:178530324;178530323;178530322 | chr2:179395051;179395050;179395049 |
| N2A | 32863 | 98812;98813;98814 | chr2:178530324;178530323;178530322 | chr2:179395051;179395050;179395049 |
| N2B | 26366 | 79321;79322;79323 | chr2:178530324;178530323;178530322 | chr2:179395051;179395050;179395049 |
| Novex-1 | 26491 | 79696;79697;79698 | chr2:178530324;178530323;178530322 | chr2:179395051;179395050;179395049 |
| Novex-2 | 26558 | 79897;79898;79899 | chr2:178530324;178530323;178530322 | chr2:179395051;179395050;179395049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs770923321  |
-1.206 | None | N | 0.111 | 0.159 | 0.409533910539 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/A | rs770923321 |
-1.206 | None | N | 0.111 | 0.159 | 0.409533910539 | gnomAD-4.0.0 | 1.59101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43287E-05 | 0 |
| V/L | rs774220321 |
-0.463 | 0.002 | N | 0.334 | 0.099 | 0.281381271821 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 0 |
| V/L | rs774220321 |
-0.463 | 0.002 | N | 0.334 | 0.099 | 0.281381271821 | gnomAD-4.0.0 | 1.59102E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85763E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.1349 | likely_benign | 0.1438 | benign | -1.088 | Destabilizing | None | N | 0.111 | neutral | N | 0.437362581 | None | None | N |
| V/C | 0.7461 | likely_pathogenic | 0.7964 | pathogenic | -1.158 | Destabilizing | 0.326 | N | 0.56 | neutral | None | None | None | None | N |
| V/D | 0.4729 | ambiguous | 0.5868 | pathogenic | -0.553 | Destabilizing | 0.153 | N | 0.631 | neutral | D | 0.535270105 | None | None | N |
| V/E | 0.4066 | ambiguous | 0.4984 | ambiguous | -0.592 | Destabilizing | 0.064 | N | 0.577 | neutral | None | None | None | None | N |
| V/F | 0.1809 | likely_benign | 0.2358 | benign | -1.155 | Destabilizing | 0.153 | N | 0.611 | neutral | N | 0.498301126 | None | None | N |
| V/G | 0.2576 | likely_benign | 0.3152 | benign | -1.31 | Destabilizing | 0.025 | N | 0.541 | neutral | D | 0.532142398 | None | None | N |
| V/H | 0.6624 | likely_pathogenic | 0.7657 | pathogenic | -0.868 | Destabilizing | 0.848 | D | 0.575 | neutral | None | None | None | None | N |
| V/I | 0.0748 | likely_benign | 0.0825 | benign | -0.603 | Destabilizing | None | N | 0.124 | neutral | N | 0.505491728 | None | None | N |
| V/K | 0.4733 | ambiguous | 0.5852 | pathogenic | -0.626 | Destabilizing | 0.064 | N | 0.584 | neutral | None | None | None | None | N |
| V/L | 0.1847 | likely_benign | 0.2254 | benign | -0.603 | Destabilizing | 0.002 | N | 0.334 | neutral | N | 0.514343284 | None | None | N |
| V/M | 0.1664 | likely_benign | 0.2016 | benign | -0.616 | Destabilizing | 0.193 | N | 0.54 | neutral | None | None | None | None | N |
| V/N | 0.3415 | ambiguous | 0.4597 | ambiguous | -0.445 | Destabilizing | 0.326 | N | 0.638 | neutral | None | None | None | None | N |
| V/P | 0.7305 | likely_pathogenic | 0.8595 | pathogenic | -0.732 | Destabilizing | 0.193 | N | 0.599 | neutral | None | None | None | None | N |
| V/Q | 0.447 | ambiguous | 0.5437 | ambiguous | -0.676 | Destabilizing | 0.326 | N | 0.613 | neutral | None | None | None | None | N |
| V/R | 0.3922 | ambiguous | 0.5061 | ambiguous | -0.242 | Destabilizing | 0.193 | N | 0.627 | neutral | None | None | None | None | N |
| V/S | 0.2093 | likely_benign | 0.2543 | benign | -1.019 | Destabilizing | 0.033 | N | 0.493 | neutral | None | None | None | None | N |
| V/T | 0.1725 | likely_benign | 0.198 | benign | -0.95 | Destabilizing | 0.033 | N | 0.449 | neutral | None | None | None | None | N |
| V/W | 0.8484 | likely_pathogenic | 0.9118 | pathogenic | -1.207 | Destabilizing | 0.848 | D | 0.585 | neutral | None | None | None | None | N |
| V/Y | 0.5694 | likely_pathogenic | 0.673 | pathogenic | -0.863 | Destabilizing | 0.326 | N | 0.61 | neutral | 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.