Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32033 | 96322;96323;96324 | chr2:178544047;178544046;178544045 | chr2:179408774;179408773;179408772 |
| N2AB | 30392 | 91399;91400;91401 | chr2:178544047;178544046;178544045 | chr2:179408774;179408773;179408772 |
| N2A | 29465 | 88618;88619;88620 | chr2:178544047;178544046;178544045 | chr2:179408774;179408773;179408772 |
| N2B | 22968 | 69127;69128;69129 | chr2:178544047;178544046;178544045 | chr2:179408774;179408773;179408772 |
| Novex-1 | 23093 | 69502;69503;69504 | chr2:178544047;178544046;178544045 | chr2:179408774;179408773;179408772 |
| Novex-2 | 23160 | 69703;69704;69705 | chr2:178544047;178544046;178544045 | chr2:179408774;179408773;179408772 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs755271215  |
-0.646 | 1.0 | N | 0.745 | 0.534 | 0.665552289088 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 2.67E-05 | 0 |
| R/C | rs755271215 |
-0.646 | 1.0 | N | 0.745 | 0.534 | 0.665552289088 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 1.92827E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs755271215 |
-0.646 | 1.0 | N | 0.745 | 0.534 | 0.665552289088 | gnomAD-4.0.0 | 2.04529E-05 | None | None | None | None | N | None | 0 | 3.33389E-05 | None | 0 | 2.67451E-04 | None | 0 | 1.65235E-04 | 1.52586E-05 | 0 | 0 |
| R/H | rs200648462 |
-1.42 | 1.0 | N | 0.738 | 0.427 | None | gnomAD-2.1.1 | 3.7154E-04 | None | None | None | None | N | None | 3.22447E-03 | 4.8096E-04 | None | 1.93424E-04 | 5.12E-05 | None | 3.27E-05 | None | 0 | 3.91E-05 | 0 |
| R/H | rs200648462 |
-1.42 | 1.0 | N | 0.738 | 0.427 | None | gnomAD-3.1.2 | 8.68056E-04 | None | None | None | None | N | None | 2.87467E-03 | 3.27826E-04 | 0 | 5.76037E-04 | 0 | None | 0 | 0 | 7.35E-05 | 2.07469E-04 | 0 |
| R/H | rs200648462 |
-1.42 | 1.0 | N | 0.738 | 0.427 | None | 1000 genomes | 9.98403E-04 | None | None | None | None | N | None | 3.8E-03 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| R/H | rs200648462 |
-1.42 | 1.0 | N | 0.738 | 0.427 | None | gnomAD-4.0.0 | 1.84686E-04 | None | None | None | None | N | None | 2.68079E-03 | 4.00053E-04 | None | 2.02716E-04 | 2.22856E-05 | None | 0 | 0 | 3.89935E-05 | 4.39252E-05 | 2.56115E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9466 | likely_pathogenic | 0.9255 | pathogenic | -0.347 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| R/C | 0.5351 | ambiguous | 0.4606 | ambiguous | -0.527 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.492496509 | None | None | N |
| R/D | 0.976 | likely_pathogenic | 0.9709 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/E | 0.8597 | likely_pathogenic | 0.8358 | pathogenic | 0.192 | Stabilizing | 0.999 | D | 0.617 | neutral | None | None | None | None | N |
| R/F | 0.9226 | likely_pathogenic | 0.8979 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| R/G | 0.9067 | likely_pathogenic | 0.8732 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.501459731 | None | None | N |
| R/H | 0.2348 | likely_benign | 0.2121 | benign | -0.974 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | N | 0.481278334 | None | None | N |
| R/I | 0.8194 | likely_pathogenic | 0.7578 | pathogenic | 0.301 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| R/K | 0.3471 | ambiguous | 0.3164 | benign | -0.311 | Destabilizing | 0.998 | D | 0.507 | neutral | None | None | None | None | N |
| R/L | 0.7522 | likely_pathogenic | 0.6881 | pathogenic | 0.301 | Stabilizing | 1.0 | D | 0.665 | neutral | N | 0.464944825 | None | None | N |
| R/M | 0.8463 | likely_pathogenic | 0.786 | pathogenic | -0.192 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/N | 0.9409 | likely_pathogenic | 0.9289 | pathogenic | -0.084 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| R/P | 0.9835 | likely_pathogenic | 0.9797 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | D | 0.524336926 | None | None | N |
| R/Q | 0.3024 | likely_benign | 0.2641 | benign | -0.171 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| R/S | 0.9281 | likely_pathogenic | 0.908 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.456323997 | None | None | N |
| R/T | 0.83 | likely_pathogenic | 0.778 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| R/V | 0.8534 | likely_pathogenic | 0.8066 | pathogenic | 0.106 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/W | 0.5172 | ambiguous | 0.4405 | ambiguous | -0.283 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| R/Y | 0.7813 | likely_pathogenic | 0.7336 | pathogenic | 0.085 | Stabilizing | 1.0 | D | 0.731 | prob.delet. | 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.