Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7868 | 23827;23828;23829 | chr2:178720040;178720039;178720038 | chr2:179584767;179584766;179584765 |
| N2AB | 7551 | 22876;22877;22878 | chr2:178720040;178720039;178720038 | chr2:179584767;179584766;179584765 |
| N2A | 6624 | 20095;20096;20097 | chr2:178720040;178720039;178720038 | chr2:179584767;179584766;179584765 |
| 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 | rs1158489320  |
None | 1.0 | D | 0.906 | 0.696 | 0.818476300364 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| C/R | rs1158489320 |
None | 1.0 | D | 0.906 | 0.696 | 0.818476300364 | gnomAD-4.0.0 | 4.33878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23025E-05 | None | 0 | 0 | 5.0863E-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 | 0.9472 | likely_pathogenic | 0.9299 | pathogenic | -1.204 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| C/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.523 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| C/F | 0.8715 | likely_pathogenic | 0.8607 | pathogenic | -0.644 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.538823325 | None | None | N |
| C/G | 0.9063 | likely_pathogenic | 0.8823 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.563056873 | None | None | N |
| C/H | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.801 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| C/I | 0.8863 | likely_pathogenic | 0.8734 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/L | 0.7991 | likely_pathogenic | 0.7609 | pathogenic | -0.251 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| C/M | 0.9666 | likely_pathogenic | 0.9606 | pathogenic | -0.044 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| C/N | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| C/Q | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| C/R | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.563056873 | None | None | N |
| C/S | 0.9789 | likely_pathogenic | 0.9725 | pathogenic | -1.667 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.563056873 | None | None | N |
| C/T | 0.9832 | likely_pathogenic | 0.9777 | pathogenic | -1.231 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| C/V | 0.8127 | likely_pathogenic | 0.7884 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| C/W | 0.9946 | likely_pathogenic | 0.9944 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.877 | deleterious | D | 0.563056873 | None | None | N |
| C/Y | 0.9865 | likely_pathogenic | 0.9843 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.563056873 | 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.