Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3527 | 10804;10805;10806 | chr2:178757641;178757640;178757639 | chr2:179622368;179622367;179622366 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3481 | 10666;10667;10668 | chr2:178757641;178757640;178757639 | chr2:179622368;179622367;179622366 |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1355094541  |
None | None | None | None | 0.206 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1355094541 |
None | None | None | None | 0.206 | None | gnomAD-4.0.0 | 6.56901E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.92382E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs372531162 |
-1.112 | None | None | None | 0.326 | None | gnomAD-2.1.1 | 9.56E-05 | None | None | None | None | I | None | 3.44511E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/F | rs372531162 |
-1.112 | None | None | None | 0.326 | None | gnomAD-3.1.2 | 7.89E-05 | None | None | None | None | I | None | 2.89505E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs372531162 |
-1.112 | None | None | None | 0.326 | None | gnomAD-4.0.0 | 9.91522E-06 | None | None | None | None | I | None | 2.13544E-04 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | None | None | None | None | None | 0.263 | None | gnomAD-4.0.0 | 1.36846E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99512E-07 | 1.15947E-05 | 0 |
| V/L | rs372531162 |
-0.443 | None | None | None | 0.242 | None | gnomAD-2.1.1 | 7.14E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.56E-05 | 0 |
| V/L | rs372531162 |
-0.443 | None | None | None | 0.242 | None | gnomAD-4.0.0 | 5.47385E-06 | None | None | None | None | I | None | 0 | 2.23624E-05 | None | 0 | 0 | None | 0 | 0 | 6.29658E-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 | 0.356 | ambiguous | None | None | -0.955 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/C | 0.9327 | likely_pathogenic | None | None | -0.798 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/D | 0.8568 | likely_pathogenic | None | None | -0.57 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/E | 0.6831 | likely_pathogenic | None | None | -0.646 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/F | 0.4504 | ambiguous | None | None | -0.975 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/G | 0.5698 | likely_pathogenic | None | None | -1.173 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/H | 0.9061 | likely_pathogenic | None | None | -0.706 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/I | 0.1084 | likely_benign | None | None | -0.5 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/K | 0.7 | likely_pathogenic | None | None | -0.737 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/L | 0.4148 | ambiguous | None | None | -0.5 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/M | 0.3274 | likely_benign | None | None | -0.364 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/N | 0.7603 | likely_pathogenic | None | None | -0.461 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/P | 0.8497 | likely_pathogenic | None | None | -0.615 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Q | 0.7058 | likely_pathogenic | None | None | -0.707 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/R | 0.6258 | likely_pathogenic | None | None | -0.197 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/S | 0.5427 | ambiguous | None | None | -0.945 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/T | 0.3373 | likely_benign | None | None | -0.914 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/W | 0.9629 | likely_pathogenic | None | None | -1.059 | Destabilizing | None | None | None | None | None | None | None | None | I |
| V/Y | 0.8993 | likely_pathogenic | None | None | -0.762 | Destabilizing | None | None | None | None | 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.