Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15229 | 45910;45911;45912 | chr2:178620925;178620924;178620923 | chr2:179485652;179485651;179485650 |
| N2AB | 13588 | 40987;40988;40989 | chr2:178620925;178620924;178620923 | chr2:179485652;179485651;179485650 |
| N2A | 12661 | 38206;38207;38208 | chr2:178620925;178620924;178620923 | chr2:179485652;179485651;179485650 |
| N2B | 6164 | 18715;18716;18717 | chr2:178620925;178620924;178620923 | chr2:179485652;179485651;179485650 |
| Novex-1 | 6289 | 19090;19091;19092 | chr2:178620925;178620924;178620923 | chr2:179485652;179485651;179485650 |
| Novex-2 | 6356 | 19291;19292;19293 | chr2:178620925;178620924;178620923 | chr2:179485652;179485651;179485650 |
| 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 | rs753818213  |
-1.44 | 0.983 | D | 0.849 | 0.579 | 0.778977725916 | gnomAD-2.1.1 | 8.09E-06 | None | None | None | None | N | None | 0 | 5.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs753818213 |
-1.44 | 0.983 | D | 0.849 | 0.579 | 0.778977725916 | gnomAD-4.0.0 | 3.18814E-06 | None | None | None | None | N | None | 0 | 4.58568E-05 | None | 0 | 0 | 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 | 0.7642 | likely_pathogenic | 0.7566 | pathogenic | -1.252 | Destabilizing | 0.011 | N | 0.427 | neutral | None | None | None | None | N |
| C/D | 0.9986 | likely_pathogenic | 0.9976 | pathogenic | -1.503 | Destabilizing | 0.961 | D | 0.878 | deleterious | None | None | None | None | N |
| C/E | 0.999 | likely_pathogenic | 0.9985 | pathogenic | -1.229 | Destabilizing | 0.923 | D | 0.879 | deleterious | None | None | None | None | N |
| C/F | 0.7523 | likely_pathogenic | 0.7293 | pathogenic | -0.702 | Destabilizing | 0.949 | D | 0.851 | deleterious | D | 0.593861326 | None | None | N |
| C/G | 0.6938 | likely_pathogenic | 0.6793 | pathogenic | -1.626 | Destabilizing | 0.565 | D | 0.857 | deleterious | D | 0.672261827 | None | None | N |
| C/H | 0.9948 | likely_pathogenic | 0.9922 | pathogenic | -1.931 | Destabilizing | 0.996 | D | 0.869 | deleterious | None | None | None | None | N |
| C/I | 0.7398 | likely_pathogenic | 0.712 | pathogenic | -0.231 | Destabilizing | 0.923 | D | 0.809 | deleterious | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9989 | pathogenic | -0.737 | Destabilizing | 0.923 | D | 0.873 | deleterious | None | None | None | None | N |
| C/L | 0.7745 | likely_pathogenic | 0.7435 | pathogenic | -0.231 | Destabilizing | 0.633 | D | 0.749 | deleterious | None | None | None | None | N |
| C/M | 0.905 | likely_pathogenic | 0.8892 | pathogenic | 0.161 | Stabilizing | 0.996 | D | 0.777 | deleterious | None | None | None | None | N |
| C/N | 0.9929 | likely_pathogenic | 0.9897 | pathogenic | -1.548 | Destabilizing | 0.961 | D | 0.876 | deleterious | None | None | None | None | N |
| C/P | 0.9991 | likely_pathogenic | 0.9986 | pathogenic | -0.549 | Destabilizing | 0.961 | D | 0.879 | deleterious | None | None | None | None | N |
| C/Q | 0.9966 | likely_pathogenic | 0.9953 | pathogenic | -0.95 | Destabilizing | 0.961 | D | 0.879 | deleterious | None | None | None | None | N |
| C/R | 0.9921 | likely_pathogenic | 0.9882 | pathogenic | -1.394 | Destabilizing | 0.901 | D | 0.875 | deleterious | D | 0.673366564 | None | None | N |
| C/S | 0.8525 | likely_pathogenic | 0.8448 | pathogenic | -1.739 | Destabilizing | 0.565 | D | 0.766 | deleterious | D | 0.633911237 | None | None | N |
| C/T | 0.825 | likely_pathogenic | 0.8234 | pathogenic | -1.273 | Destabilizing | 0.775 | D | 0.79 | deleterious | None | None | None | None | N |
| C/V | 0.5748 | likely_pathogenic | 0.5498 | ambiguous | -0.549 | Destabilizing | 0.633 | D | 0.765 | deleterious | None | None | None | None | N |
| C/W | 0.9785 | likely_pathogenic | 0.9703 | pathogenic | -1.211 | Destabilizing | 0.995 | D | 0.853 | deleterious | D | 0.673366564 | None | None | N |
| C/Y | 0.949 | likely_pathogenic | 0.9323 | pathogenic | -0.92 | Destabilizing | 0.983 | D | 0.849 | deleterious | D | 0.672261828 | 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.