Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21050 | 63373;63374;63375 | chr2:178588577;178588576;178588575 | chr2:179453304;179453303;179453302 |
| N2AB | 19409 | 58450;58451;58452 | chr2:178588577;178588576;178588575 | chr2:179453304;179453303;179453302 |
| N2A | 18482 | 55669;55670;55671 | chr2:178588577;178588576;178588575 | chr2:179453304;179453303;179453302 |
| N2B | 11985 | 36178;36179;36180 | chr2:178588577;178588576;178588575 | chr2:179453304;179453303;179453302 |
| Novex-1 | 12110 | 36553;36554;36555 | chr2:178588577;178588576;178588575 | chr2:179453304;179453303;179453302 |
| Novex-2 | 12177 | 36754;36755;36756 | chr2:178588577;178588576;178588575 | chr2:179453304;179453303;179453302 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | None | None | 1.0 | D | 0.918 | 0.705 | 0.75280674281 | gnomAD-4.0.0 | 1.4335E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.77047E-05 | 0 |
| S/T | None | None | 0.999 | N | 0.913 | 0.561 | 0.495038369364 | gnomAD-4.0.0 | 1.1468E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.38653E-05 | 0 | 1.74046E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.6193 | likely_pathogenic | 0.5182 | ambiguous | -1.133 | Destabilizing | 0.998 | D | 0.868 | deleterious | None | None | None | None | N |
| S/C | 0.6273 | likely_pathogenic | 0.5908 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.55570131 | None | None | N |
| S/D | 0.9953 | likely_pathogenic | 0.9946 | pathogenic | -1.956 | Destabilizing | 0.999 | D | 0.915 | deleterious | None | None | None | None | N |
| S/E | 0.9975 | likely_pathogenic | 0.9969 | pathogenic | -1.767 | Destabilizing | 0.999 | D | 0.916 | deleterious | None | None | None | None | N |
| S/F | 0.9948 | likely_pathogenic | 0.9943 | pathogenic | -0.645 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| S/G | 0.5926 | likely_pathogenic | 0.4137 | ambiguous | -1.491 | Destabilizing | 0.999 | D | 0.903 | deleterious | N | 0.509578072 | None | None | N |
| S/H | 0.9929 | likely_pathogenic | 0.9923 | pathogenic | -1.67 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| S/I | 0.9894 | likely_pathogenic | 0.9895 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.537090076 | None | None | N |
| S/K | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.89 | Destabilizing | 0.999 | D | 0.912 | deleterious | None | None | None | None | N |
| S/L | 0.9488 | likely_pathogenic | 0.9443 | pathogenic | -0.215 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| S/M | 0.979 | likely_pathogenic | 0.9794 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| S/N | 0.9818 | likely_pathogenic | 0.979 | pathogenic | -1.464 | Destabilizing | 0.999 | D | 0.916 | deleterious | D | 0.554940841 | None | None | N |
| S/P | 0.9944 | likely_pathogenic | 0.9939 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| S/Q | 0.996 | likely_pathogenic | 0.9949 | pathogenic | -1.197 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | N |
| S/R | 0.9988 | likely_pathogenic | 0.9984 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.531303178 | None | None | N |
| S/T | 0.6557 | likely_pathogenic | 0.7467 | pathogenic | -1.139 | Destabilizing | 0.999 | D | 0.913 | deleterious | N | 0.516197436 | None | None | N |
| S/V | 0.9734 | likely_pathogenic | 0.9744 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| S/W | 0.9963 | likely_pathogenic | 0.9963 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| S/Y | 0.9932 | likely_pathogenic | 0.9921 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.921 | 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.