Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6553 | 19882;19883;19884 | chr2:178728167;178728166;178728165 | chr2:179592894;179592893;179592892 |
| N2AB | 6236 | 18931;18932;18933 | chr2:178728167;178728166;178728165 | chr2:179592894;179592893;179592892 |
| N2A | 5309 | 16150;16151;16152 | chr2:178728167;178728166;178728165 | chr2:179592894;179592893;179592892 |
| 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/F | None | None | 1.0 | D | 0.892 | 0.698 | 0.872414856674 | gnomAD-4.0.0 | 1.60017E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87465E-06 | 0 | 0 |
| C/G | rs377449031  |
None | 1.0 | D | 0.874 | 0.753 | 0.905126728963 | gnomAD-4.0.0 | 1.59863E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8717E-06 | 0 | 0 |
| C/R | rs377449031 |
-1.373 | 1.0 | D | 0.903 | 0.764 | None | gnomAD-2.1.1 | 4.07E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| C/R | rs377449031 |
-1.373 | 1.0 | D | 0.903 | 0.764 | None | gnomAD-4.0.0 | 1.59863E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8717E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.9047 | likely_pathogenic | 0.9547 | pathogenic | -1.344 | Destabilizing | 0.998 | D | 0.73 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | -1.354 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9993 | likely_pathogenic | 0.9997 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/F | 0.6975 | likely_pathogenic | 0.8138 | pathogenic | -0.769 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.552483808 | disulfide | None | N |
| C/G | 0.807 | likely_pathogenic | 0.9077 | pathogenic | -1.721 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.565361051 | disulfide | None | N |
| C/H | 0.9956 | likely_pathogenic | 0.9979 | pathogenic | -1.964 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8167 | likely_pathogenic | 0.8995 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9992 | likely_pathogenic | 0.9996 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | disulfide | None | N |
| C/L | 0.75 | likely_pathogenic | 0.8436 | pathogenic | -0.314 | Destabilizing | 0.999 | D | 0.777 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9221 | likely_pathogenic | 0.956 | pathogenic | 0.507 | Stabilizing | 1.0 | D | 0.836 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9957 | likely_pathogenic | 0.998 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9983 | likely_pathogenic | 0.9991 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.997 | likely_pathogenic | 0.9987 | pathogenic | -0.871 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9881 | likely_pathogenic | 0.9944 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.554004745 | disulfide | None | N |
| C/S | 0.9513 | likely_pathogenic | 0.98 | pathogenic | -1.665 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.565361051 | disulfide | None | N |
| C/T | 0.9701 | likely_pathogenic | 0.9867 | pathogenic | -1.21 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | disulfide | None | N |
| C/V | 0.6933 | likely_pathogenic | 0.8162 | pathogenic | -0.636 | Destabilizing | 0.999 | D | 0.797 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9691 | likely_pathogenic | 0.9826 | pathogenic | -1.212 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.565361051 | disulfide | None | N |
| C/Y | 0.9351 | likely_pathogenic | 0.9684 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.565361051 | disulfide | 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.