Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21010 | 63253;63254;63255 | chr2:178588697;178588696;178588695 | chr2:179453424;179453423;179453422 |
| N2AB | 19369 | 58330;58331;58332 | chr2:178588697;178588696;178588695 | chr2:179453424;179453423;179453422 |
| N2A | 18442 | 55549;55550;55551 | chr2:178588697;178588696;178588695 | chr2:179453424;179453423;179453422 |
| N2B | 11945 | 36058;36059;36060 | chr2:178588697;178588696;178588695 | chr2:179453424;179453423;179453422 |
| Novex-1 | 12070 | 36433;36434;36435 | chr2:178588697;178588696;178588695 | chr2:179453424;179453423;179453422 |
| Novex-2 | 12137 | 36634;36635;36636 | chr2:178588697;178588696;178588695 | chr2:179453424;179453423;179453422 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs779713577  |
-0.772 | 1.0 | D | 0.691 | 0.548 | 0.437420747294 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| W/C | rs779713577 |
-0.772 | 1.0 | D | 0.691 | 0.548 | 0.437420747294 | gnomAD-4.0.0 | 1.59242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86038E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9982 | likely_pathogenic | 0.9968 | pathogenic | -3.101 | Highly Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/C | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -1.326 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | D | 0.533061382 | None | None | N |
| W/D | 0.9995 | likely_pathogenic | 0.9989 | pathogenic | -1.972 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/E | 0.9997 | likely_pathogenic | 0.9993 | pathogenic | -1.905 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| W/F | 0.8177 | likely_pathogenic | 0.7821 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | N |
| W/G | 0.9938 | likely_pathogenic | 0.99 | pathogenic | -3.296 | Highly Destabilizing | 1.0 | D | 0.642 | neutral | D | 0.543821803 | None | None | N |
| W/H | 0.9976 | likely_pathogenic | 0.9959 | pathogenic | -1.614 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | N |
| W/I | 0.9957 | likely_pathogenic | 0.9934 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| W/K | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.653 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| W/L | 0.9892 | likely_pathogenic | 0.983 | pathogenic | -2.384 | Highly Destabilizing | 1.0 | D | 0.642 | neutral | N | 0.515295841 | None | None | N |
| W/M | 0.9971 | likely_pathogenic | 0.9952 | pathogenic | -1.762 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| W/N | 0.9993 | likely_pathogenic | 0.9987 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| W/P | 0.9987 | likely_pathogenic | 0.9979 | pathogenic | -2.641 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.026 | Highly Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| W/R | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.532047424 | None | None | N |
| W/S | 0.9972 | likely_pathogenic | 0.9946 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.734 | prob.delet. | D | 0.52495708 | None | None | N |
| W/T | 0.9982 | likely_pathogenic | 0.9966 | pathogenic | -2.293 | Highly Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| W/V | 0.9966 | likely_pathogenic | 0.9941 | pathogenic | -2.641 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/Y | 0.9279 | likely_pathogenic | 0.9065 | pathogenic | -1.76 | Destabilizing | 1.0 | D | 0.548 | 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.