Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5096 | 15511;15512;15513 | chr2:178734538;178734537;178734536 | chr2:179599265;179599264;179599263 |
| N2AB | 4779 | 14560;14561;14562 | chr2:178734538;178734537;178734536 | chr2:179599265;179599264;179599263 |
| N2A | 3852 | 11779;11780;11781 | chr2:178734538;178734537;178734536 | chr2:179599265;179599264;179599263 |
| 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 | None | None | 0.997 | D | 0.869 | 0.93 | 0.93170409529 | gnomAD-4.0.0 | 2.74299E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.60425E-06 | 0 | 0 |
| C/Y | rs761022854  |
-1.228 | 0.4 | D | 0.702 | 0.743 | 0.857939549357 | gnomAD-2.1.1 | 4.07E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| C/Y | rs761022854 |
-1.228 | 0.4 | D | 0.702 | 0.743 | 0.857939549357 | 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 | rs761022854 |
-1.228 | 0.4 | D | 0.702 | 0.743 | 0.857939549357 | gnomAD-4.0.0 | 6.43041E-06 | None | None | disulfide | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.61358E-06 | 0 | 2.85209E-05 |
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 | 0.9232 | likely_pathogenic | 0.8818 | pathogenic | -1.824 | Destabilizing | 0.982 | D | 0.663 | neutral | None | None | disulfide | None | N |
| C/D | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.794 | Destabilizing | 0.999 | D | 0.88 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -1.559 | Destabilizing | 0.999 | D | 0.878 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8989 | likely_pathogenic | 0.8788 | pathogenic | -1.084 | Destabilizing | 0.989 | D | 0.834 | deleterious | D | 0.801494556 | disulfide | None | N |
| C/G | 0.857 | likely_pathogenic | 0.8049 | pathogenic | -2.177 | Highly Destabilizing | 0.999 | D | 0.852 | deleterious | D | 0.730605881 | disulfide | None | N |
| C/H | 0.9978 | likely_pathogenic | 0.9974 | pathogenic | -2.325 | Highly Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/I | 0.917 | likely_pathogenic | 0.8901 | pathogenic | -0.861 | Destabilizing | 0.998 | D | 0.816 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.537 | Destabilizing | 0.998 | D | 0.878 | deleterious | None | None | disulfide | None | N |
| C/L | 0.9138 | likely_pathogenic | 0.8772 | pathogenic | -0.861 | Destabilizing | 0.985 | D | 0.753 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9558 | likely_pathogenic | 0.9367 | pathogenic | -0.123 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9973 | likely_pathogenic | 0.9962 | pathogenic | -2.096 | Highly Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.161 | Destabilizing | 0.999 | D | 0.868 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9989 | likely_pathogenic | 0.9984 | pathogenic | -1.628 | Destabilizing | 0.999 | D | 0.877 | deleterious | None | None | disulfide | None | N |
| C/R | 0.9968 | likely_pathogenic | 0.9965 | pathogenic | -1.854 | Destabilizing | 0.997 | D | 0.869 | deleterious | D | 0.834490078 | disulfide | None | N |
| C/S | 0.9666 | likely_pathogenic | 0.95 | pathogenic | -2.419 | Highly Destabilizing | 0.99 | D | 0.808 | deleterious | D | 0.76674624 | disulfide | None | N |
| C/T | 0.9655 | likely_pathogenic | 0.9476 | pathogenic | -2.01 | Highly Destabilizing | 0.998 | D | 0.811 | deleterious | None | None | disulfide | None | N |
| C/V | 0.8238 | likely_pathogenic | 0.7666 | pathogenic | -1.161 | Destabilizing | 0.985 | D | 0.785 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9887 | likely_pathogenic | 0.9878 | pathogenic | -1.505 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.834490078 | disulfide | None | N |
| C/Y | 0.9798 | likely_pathogenic | 0.9774 | pathogenic | -1.33 | Destabilizing | 0.4 | N | 0.702 | prob.neutral | D | 0.746315101 | 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.