Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8528 | 25807;25808;25809 | chr2:178717152;178717151;178717150 | chr2:179581879;179581878;179581877 |
| N2AB | 8211 | 24856;24857;24858 | chr2:178717152;178717151;178717150 | chr2:179581879;179581878;179581877 |
| N2A | 7284 | 22075;22076;22077 | chr2:178717152;178717151;178717150 | chr2:179581879;179581878;179581877 |
| 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/Y | rs1364963458  |
-1.678 | 1.0 | D | 0.82 | 0.582 | 0.869667680407 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| C/Y | rs1364963458 |
-1.678 | 1.0 | D | 0.82 | 0.582 | 0.869667680407 | gnomAD-4.0.0 | 4.10599E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39761E-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 | 0.9007 | likely_pathogenic | 0.9373 | pathogenic | -1.714 | Destabilizing | 0.986 | D | 0.703 | prob.neutral | None | None | disulfide | None | N |
| C/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | disulfide | None | N |
| C/F | 0.9368 | likely_pathogenic | 0.9436 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.543596265 | disulfide | None | N |
| C/G | 0.8833 | likely_pathogenic | 0.9155 | pathogenic | -2.078 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | D | 0.567829813 | disulfide | None | N |
| C/H | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -2.203 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9334 | likely_pathogenic | 0.9476 | pathogenic | -0.721 | Destabilizing | 0.997 | D | 0.741 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9999 | likely_pathogenic | 0.9999 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | disulfide | None | N |
| C/L | 0.878 | likely_pathogenic | 0.894 | pathogenic | -0.721 | Destabilizing | 0.836 | D | 0.601 | neutral | None | None | disulfide | None | N |
| C/M | 0.9779 | likely_pathogenic | 0.9823 | pathogenic | 0.191 | Stabilizing | 0.993 | D | 0.631 | neutral | None | None | disulfide | None | N |
| C/N | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.503 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9979 | likely_pathogenic | 0.9983 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.84 | deleterious | D | 0.567829813 | disulfide | None | N |
| C/S | 0.9723 | likely_pathogenic | 0.9808 | pathogenic | -1.842 | Destabilizing | 0.996 | D | 0.747 | deleterious | D | 0.567829813 | disulfide | None | N |
| C/T | 0.9845 | likely_pathogenic | 0.989 | pathogenic | -1.414 | Destabilizing | 0.997 | D | 0.743 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8469 | likely_pathogenic | 0.8815 | pathogenic | -1.03 | Destabilizing | 0.98 | D | 0.727 | prob.delet. | None | None | disulfide | None | N |
| C/W | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -1.38 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.567829813 | disulfide | None | N |
| C/Y | 0.9926 | likely_pathogenic | 0.993 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.567829813 | 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.