Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8285 | 25078;25079;25080 | chr2:178718153;178718152;178718151 | chr2:179582880;179582879;179582878 |
| N2AB | 7968 | 24127;24128;24129 | chr2:178718153;178718152;178718151 | chr2:179582880;179582879;179582878 |
| N2A | 7041 | 21346;21347;21348 | chr2:178718153;178718152;178718151 | chr2:179582880;179582879;179582878 |
| 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/G | rs757040162  |
-2.511 | 1.0 | D | 0.897 | 0.82 | 0.933987002762 | gnomAD-2.1.1 | 4.1E-06 | None | None | disulfide | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/R | None | None | 1.0 | D | 0.927 | 0.84 | 0.928824428499 | gnomAD-4.0.0 | 6.87163E-07 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99601E-07 | 0 | 0 |
| C/S | rs757040162 |
-2.348 | 1.0 | D | 0.83 | 0.839 | 0.882702632475 | gnomAD-2.1.1 | 4.1E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs757040162 |
-2.348 | 1.0 | D | 0.83 | 0.839 | 0.882702632475 | gnomAD-4.0.0 | 1.37433E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 5.03956E-05 | None | 0 | 0 | 0 | 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 | 0.8652 | likely_pathogenic | 0.8721 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | disulfide | None | N |
| C/D | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8519 | likely_pathogenic | 0.8745 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.638573782 | disulfide | None | N |
| C/G | 0.6744 | likely_pathogenic | 0.7652 | pathogenic | -1.91 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.622554421 | disulfide | None | N |
| C/H | 0.9965 | likely_pathogenic | 0.9975 | pathogenic | -2.117 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | disulfide | None | N |
| C/I | 0.9072 | likely_pathogenic | 0.8872 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | disulfide | None | N |
| C/L | 0.8939 | likely_pathogenic | 0.8981 | pathogenic | -0.6 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9507 | likely_pathogenic | 0.947 | pathogenic | -0.056 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9935 | likely_pathogenic | 0.9949 | pathogenic | -1.754 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9973 | likely_pathogenic | 0.9979 | pathogenic | -1.281 | Destabilizing | 1.0 | D | 0.936 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9938 | likely_pathogenic | 0.9961 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.648062172 | disulfide | None | N |
| C/S | 0.9243 | likely_pathogenic | 0.9297 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.647658563 | disulfide | None | N |
| C/T | 0.9266 | likely_pathogenic | 0.9347 | pathogenic | -1.626 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7983 | likely_pathogenic | 0.7639 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9864 | likely_pathogenic | 0.9899 | pathogenic | -1.334 | Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.664313698 | disulfide | None | N |
| C/Y | 0.967 | likely_pathogenic | 0.9772 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.664111893 | 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.