Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9566 | 28921;28922;28923 | chr2:178709623;178709622;178709621 | chr2:179574350;179574349;179574348 |
| N2AB | 9249 | 27970;27971;27972 | chr2:178709623;178709622;178709621 | chr2:179574350;179574349;179574348 |
| N2A | 8322 | 25189;25190;25191 | chr2:178709623;178709622;178709621 | chr2:179574350;179574349;179574348 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | None | 0.869 | 0.793 | 0.861489576853 | gnomAD-4.0.0 | 6.15772E-06 | None | None | None | None | N | None | 2.98721E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19563E-06 | 0 | 0 |
| C/S | None | None | 1.0 | None | 0.71 | 0.746 | 0.771572928667 | gnomAD-4.0.0 | 6.84191E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15934E-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 | 0.7834 | likely_pathogenic | 0.7608 | pathogenic | -1.0 | Destabilizing | 0.998 | D | 0.726 | prob.delet. | None | None | None | None | N |
| C/D | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -1.176 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| C/E | 0.9995 | likely_pathogenic | 0.9997 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| C/F | 0.8309 | likely_pathogenic | 0.8672 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/G | 0.7114 | likely_pathogenic | 0.7524 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/H | 0.9975 | likely_pathogenic | 0.9986 | pathogenic | -1.669 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| C/I | 0.8216 | likely_pathogenic | 0.8136 | pathogenic | 0.073 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| C/L | 0.7841 | likely_pathogenic | 0.7644 | pathogenic | 0.073 | Stabilizing | 0.999 | D | 0.7 | prob.neutral | None | None | None | None | N |
| C/M | 0.9339 | likely_pathogenic | 0.9318 | pathogenic | 0.65 | Stabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| C/N | 0.9954 | likely_pathogenic | 0.9973 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| C/P | 0.9989 | likely_pathogenic | 0.9994 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| C/Q | 0.998 | likely_pathogenic | 0.9987 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| C/R | 0.9958 | likely_pathogenic | 0.9976 | pathogenic | -0.93 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/S | 0.898 | likely_pathogenic | 0.9228 | pathogenic | -1.248 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| C/T | 0.9365 | likely_pathogenic | 0.9454 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| C/V | 0.6503 | likely_pathogenic | 0.6217 | pathogenic | -0.262 | Destabilizing | 0.999 | D | 0.708 | prob.neutral | None | None | None | None | N |
| C/W | 0.9902 | likely_pathogenic | 0.9946 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| C/Y | 0.9716 | likely_pathogenic | 0.9815 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.845 | deleterious | 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.