Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19153 | 57682;57683;57684 | chr2:178597625;178597624;178597623 | chr2:179462352;179462351;179462350 |
| N2AB | 17512 | 52759;52760;52761 | chr2:178597625;178597624;178597623 | chr2:179462352;179462351;179462350 |
| N2A | 16585 | 49978;49979;49980 | chr2:178597625;178597624;178597623 | chr2:179462352;179462351;179462350 |
| N2B | 10088 | 30487;30488;30489 | chr2:178597625;178597624;178597623 | chr2:179462352;179462351;179462350 |
| Novex-1 | 10213 | 30862;30863;30864 | chr2:178597625;178597624;178597623 | chr2:179462352;179462351;179462350 |
| Novex-2 | 10280 | 31063;31064;31065 | chr2:178597625;178597624;178597623 | chr2:179462352;179462351;179462350 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/F | None | None | 1.0 | N | 0.718 | 0.506 | 0.838709154919 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7421 | likely_pathogenic | 0.7263 | pathogenic | -1.291 | Destabilizing | 0.998 | D | 0.544 | neutral | None | None | None | None | N |
| C/D | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.835 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| C/E | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| C/F | 0.9815 | likely_pathogenic | 0.9897 | pathogenic | -1.044 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.49176917 | None | None | N |
| C/G | 0.792 | likely_pathogenic | 0.8234 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.492276149 | None | None | N |
| C/H | 0.9966 | likely_pathogenic | 0.9979 | pathogenic | -2.077 | Highly Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| C/I | 0.9431 | likely_pathogenic | 0.9573 | pathogenic | -0.547 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -1.172 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| C/L | 0.9574 | likely_pathogenic | 0.9692 | pathogenic | -0.547 | Destabilizing | 0.999 | D | 0.612 | neutral | None | None | None | None | N |
| C/M | 0.9845 | likely_pathogenic | 0.988 | pathogenic | 0.226 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| C/N | 0.9914 | likely_pathogenic | 0.9932 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| C/P | 0.9834 | likely_pathogenic | 0.992 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| C/Q | 0.9971 | likely_pathogenic | 0.9981 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| C/R | 0.9927 | likely_pathogenic | 0.996 | pathogenic | -1.323 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.503632454 | None | None | N |
| C/S | 0.758 | likely_pathogenic | 0.7495 | pathogenic | -1.77 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.479531704 | None | None | N |
| C/T | 0.8676 | likely_pathogenic | 0.8608 | pathogenic | -1.464 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| C/V | 0.8122 | likely_pathogenic | 0.8321 | pathogenic | -0.77 | Destabilizing | 0.999 | D | 0.664 | neutral | None | None | None | None | N |
| C/W | 0.9974 | likely_pathogenic | 0.9986 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.675 | neutral | N | 0.503885944 | None | None | N |
| C/Y | 0.9951 | likely_pathogenic | 0.9973 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.503632454 | 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.