Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6740 | 20443;20444;20445 | chr2:178727147;178727146;178727145 | chr2:179591874;179591873;179591872 |
| N2AB | 6423 | 19492;19493;19494 | chr2:178727147;178727146;178727145 | chr2:179591874;179591873;179591872 |
| N2A | 5496 | 16711;16712;16713 | chr2:178727147;178727146;178727145 | chr2:179591874;179591873;179591872 |
| 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 | rs1232772786  |
-1.1 | 1.0 | D | 0.895 | 0.742 | 0.867609169854 | gnomAD-2.1.1 | 4.07E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.33E-05 | None | 0 | 0 | 0 |
| C/R | rs1232772786 |
-1.1 | 1.0 | D | 0.895 | 0.742 | 0.867609169854 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| C/R | rs1232772786 |
-1.1 | 1.0 | D | 0.895 | 0.742 | 0.867609169854 | gnomAD-4.0.0 | 2.49075E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.51193E-07 | 3.34665E-05 | 0 |
| C/Y | rs1414995502 |
-1.284 | 1.0 | D | 0.893 | 0.533 | 0.811632395055 | gnomAD-2.1.1 | 3.19E-05 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| C/Y | rs1414995502 |
-1.284 | 1.0 | D | 0.893 | 0.533 | 0.811632395055 | gnomAD-3.1.2 | 6.57E-06 | None | None | disulfide | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs1414995502 |
-1.284 | 1.0 | D | 0.893 | 0.533 | 0.811632395055 | gnomAD-4.0.0 | 2.58983E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.84754E-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 | 0.9658 | likely_pathogenic | 0.9556 | pathogenic | -1.466 | Destabilizing | 0.999 | D | 0.733 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.448 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9416 | likely_pathogenic | 0.9288 | pathogenic | -0.835 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.558244253 | disulfide | None | N |
| C/G | 0.9538 | likely_pathogenic | 0.945 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.55976519 | disulfide | None | N |
| C/H | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -2.011 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | disulfide | None | N |
| C/I | 0.956 | likely_pathogenic | 0.9516 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | disulfide | None | N |
| C/L | 0.884 | likely_pathogenic | 0.8949 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9802 | likely_pathogenic | 0.9788 | pathogenic | 0.282 | Stabilizing | 1.0 | D | 0.828 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -1.578 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9979 | likely_pathogenic | 0.9978 | pathogenic | -1.367 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.55976519 | disulfide | None | N |
| C/S | 0.9911 | likely_pathogenic | 0.9882 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.55976519 | disulfide | None | N |
| C/T | 0.9921 | likely_pathogenic | 0.9903 | pathogenic | -1.389 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | disulfide | None | N |
| C/V | 0.9114 | likely_pathogenic | 0.889 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9962 | likely_pathogenic | 0.9954 | pathogenic | -1.257 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.55976519 | disulfide | None | N |
| C/Y | 0.9944 | likely_pathogenic | 0.9936 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.548408885 | 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.