Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25409 | 76450;76451;76452 | chr2:178569907;178569906;178569905 | chr2:179434634;179434633;179434632 |
| N2AB | 23768 | 71527;71528;71529 | chr2:178569907;178569906;178569905 | chr2:179434634;179434633;179434632 |
| N2A | 22841 | 68746;68747;68748 | chr2:178569907;178569906;178569905 | chr2:179434634;179434633;179434632 |
| N2B | 16344 | 49255;49256;49257 | chr2:178569907;178569906;178569905 | chr2:179434634;179434633;179434632 |
| Novex-1 | 16469 | 49630;49631;49632 | chr2:178569907;178569906;178569905 | chr2:179434634;179434633;179434632 |
| Novex-2 | 16536 | 49831;49832;49833 | chr2:178569907;178569906;178569905 | chr2:179434634;179434633;179434632 |
| 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 | 1.0 | D | 0.807 | 0.548 | 0.628003037427 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85946E-06 | 0 | 0 |
| P/L | rs1707518545  |
None | 1.0 | D | 0.911 | 0.593 | 0.799283138151 | gnomAD-4.0.0 | 5.47497E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29713E-06 | 0 | 1.65717E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7941 | likely_pathogenic | 0.8359 | pathogenic | -2.148 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | D | 0.525177566 | None | None | N |
| P/C | 0.9788 | likely_pathogenic | 0.9789 | pathogenic | -2.103 | Highly Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| P/D | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -3.334 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/E | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -3.102 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| P/F | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/G | 0.9954 | likely_pathogenic | 0.9962 | pathogenic | -2.671 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/H | 0.9984 | likely_pathogenic | 0.9986 | pathogenic | -2.466 | Highly Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/I | 0.9149 | likely_pathogenic | 0.9204 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| P/K | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/L | 0.8943 | likely_pathogenic | 0.9125 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.566159016 | None | None | N |
| P/M | 0.9856 | likely_pathogenic | 0.9878 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| P/N | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -2.257 | Highly Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| P/Q | 0.9968 | likely_pathogenic | 0.9973 | pathogenic | -2.048 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.566919484 | None | None | N |
| P/R | 0.9965 | likely_pathogenic | 0.9968 | pathogenic | -1.689 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.566919484 | None | None | N |
| P/S | 0.9859 | likely_pathogenic | 0.9884 | pathogenic | -2.757 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.53704085 | None | None | N |
| P/T | 0.9576 | likely_pathogenic | 0.9644 | pathogenic | -2.392 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | D | 0.566665995 | None | None | N |
| P/V | 0.7984 | likely_pathogenic | 0.7867 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.671 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| P/Y | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.356 | Destabilizing | 1.0 | D | 0.925 | 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.