Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21065 | 63418;63419;63420 | chr2:178588214;178588213;178588212 | chr2:179452941;179452940;179452939 |
| N2AB | 19424 | 58495;58496;58497 | chr2:178588214;178588213;178588212 | chr2:179452941;179452940;179452939 |
| N2A | 18497 | 55714;55715;55716 | chr2:178588214;178588213;178588212 | chr2:179452941;179452940;179452939 |
| N2B | 12000 | 36223;36224;36225 | chr2:178588214;178588213;178588212 | chr2:179452941;179452940;179452939 |
| Novex-1 | 12125 | 36598;36599;36600 | chr2:178588214;178588213;178588212 | chr2:179452941;179452940;179452939 |
| Novex-2 | 12192 | 36799;36800;36801 | chr2:178588214;178588213;178588212 | chr2:179452941;179452940;179452939 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.999 | D | 0.849 | 0.683 | 0.711709731707 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| P/L | None | None | 1.0 | D | 0.863 | 0.723 | 0.898884801506 | gnomAD-4.0.0 | 7.07237E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.21448E-07 | 0 | 0 |
| P/R | rs2049459670  |
None | 1.0 | D | 0.855 | 0.745 | 0.866758649332 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/R | rs2049459670 |
None | 1.0 | D | 0.855 | 0.745 | 0.866758649332 | gnomAD-4.0.0 | 5.1085E-06 | None | None | None | None | N | None | 0 | 1.79527E-05 | None | 0 | 0 | None | 0 | 0 | 6.0699E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.8119 | likely_pathogenic | 0.7223 | pathogenic | -2.02 | Highly Destabilizing | 0.999 | D | 0.849 | deleterious | D | 0.619225548 | None | None | N |
| P/C | 0.9878 | likely_pathogenic | 0.9803 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/D | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -3.19 | Highly Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/E | 0.9983 | likely_pathogenic | 0.997 | pathogenic | -3.089 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/F | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/G | 0.9933 | likely_pathogenic | 0.9877 | pathogenic | -2.401 | Highly Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/H | 0.9985 | likely_pathogenic | 0.9972 | pathogenic | -1.845 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.635850321 | None | None | N |
| P/I | 0.9955 | likely_pathogenic | 0.9929 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -1.722 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| P/L | 0.9823 | likely_pathogenic | 0.9749 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.602600774 | None | None | N |
| P/M | 0.9976 | likely_pathogenic | 0.9962 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/N | 0.9995 | likely_pathogenic | 0.9991 | pathogenic | -1.939 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| P/Q | 0.9971 | likely_pathogenic | 0.9948 | pathogenic | -2.009 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| P/R | 0.9954 | likely_pathogenic | 0.9921 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.619629156 | None | None | N |
| P/S | 0.9832 | likely_pathogenic | 0.9662 | pathogenic | -2.37 | Highly Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.609706797 | None | None | N |
| P/T | 0.9856 | likely_pathogenic | 0.9727 | pathogenic | -2.166 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.610110405 | None | None | N |
| P/V | 0.9811 | likely_pathogenic | 0.9709 | pathogenic | -1.313 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/W | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/Y | 0.9997 | likely_pathogenic | 0.9995 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | 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.