Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20506 | 61741;61742;61743 | chr2:178590209;178590208;178590207 | chr2:179454936;179454935;179454934 |
| N2AB | 18865 | 56818;56819;56820 | chr2:178590209;178590208;178590207 | chr2:179454936;179454935;179454934 |
| N2A | 17938 | 54037;54038;54039 | chr2:178590209;178590208;178590207 | chr2:179454936;179454935;179454934 |
| N2B | 11441 | 34546;34547;34548 | chr2:178590209;178590208;178590207 | chr2:179454936;179454935;179454934 |
| Novex-1 | 11566 | 34921;34922;34923 | chr2:178590209;178590208;178590207 | chr2:179454936;179454935;179454934 |
| Novex-2 | 11633 | 35122;35123;35124 | chr2:178590209;178590208;178590207 | chr2:179454936;179454935;179454934 |
| 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 | rs762173583  |
-1.656 | 0.767 | N | 0.483 | 0.592 | 0.442054744378 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.62E-05 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs762173583 |
-1.656 | 0.767 | N | 0.483 | 0.592 | 0.442054744378 | gnomAD-4.0.0 | 4.83581E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56638E-05 | None | 0 | 0 | 2.89032E-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 | 0.5762 | likely_pathogenic | 0.7228 | pathogenic | -1.621 | Destabilizing | 0.767 | D | 0.483 | neutral | N | 0.519914555 | None | None | N |
| P/C | 0.9268 | likely_pathogenic | 0.9628 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| P/D | 0.9972 | likely_pathogenic | 0.9988 | pathogenic | -1.561 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| P/E | 0.9932 | likely_pathogenic | 0.9973 | pathogenic | -1.566 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/F | 0.9961 | likely_pathogenic | 0.9988 | pathogenic | -1.381 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/G | 0.9632 | likely_pathogenic | 0.9833 | pathogenic | -1.941 | Destabilizing | 0.997 | D | 0.756 | deleterious | None | None | None | None | N |
| P/H | 0.9902 | likely_pathogenic | 0.9966 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/I | 0.931 | likely_pathogenic | 0.9688 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/K | 0.9954 | likely_pathogenic | 0.9981 | pathogenic | -1.303 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| P/L | 0.8515 | likely_pathogenic | 0.9343 | pathogenic | -0.837 | Destabilizing | 0.999 | D | 0.819 | deleterious | D | 0.543686668 | None | None | N |
| P/M | 0.9543 | likely_pathogenic | 0.981 | pathogenic | -0.615 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| P/N | 0.9942 | likely_pathogenic | 0.9978 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/Q | 0.9856 | likely_pathogenic | 0.9948 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.571126674 | None | None | N |
| P/R | 0.9886 | likely_pathogenic | 0.9953 | pathogenic | -0.802 | Destabilizing | 0.999 | D | 0.849 | deleterious | D | 0.559605785 | None | None | N |
| P/S | 0.9534 | likely_pathogenic | 0.9816 | pathogenic | -1.592 | Destabilizing | 0.998 | D | 0.777 | deleterious | D | 0.559098806 | None | None | N |
| P/T | 0.8665 | likely_pathogenic | 0.9437 | pathogenic | -1.488 | Destabilizing | 0.999 | D | 0.817 | deleterious | D | 0.570619695 | None | None | N |
| P/V | 0.8343 | likely_pathogenic | 0.9106 | pathogenic | -1.064 | Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| P/W | 0.9987 | likely_pathogenic | 0.9996 | pathogenic | -1.575 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| P/Y | 0.9965 | likely_pathogenic | 0.9989 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.85 | 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.