Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10056 | 30391;30392;30393 | chr2:178704204;178704203;178704202 | chr2:179568931;179568930;179568929 |
| N2AB | 9739 | 29440;29441;29442 | chr2:178704204;178704203;178704202 | chr2:179568931;179568930;179568929 |
| N2A | 8812 | 26659;26660;26661 | chr2:178704204;178704203;178704202 | chr2:179568931;179568930;179568929 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | rs794729401  |
None | 1.0 | None | 0.795 | 0.79 | 0.868584493599 | gnomAD-4.0.0 | 3.18184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.86541E-05 | 0 |
| G/S | None | -0.888 | 0.997 | None | 0.862 | 0.836 | 0.529361283073 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | None | -0.888 | 0.997 | None | 0.862 | 0.836 | 0.529361283073 | gnomAD-4.0.0 | 1.59092E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7752 | likely_pathogenic | 0.7935 | pathogenic | -0.904 | Destabilizing | 0.991 | D | 0.795 | deleterious | None | None | None | None | N |
| G/C | 0.9732 | likely_pathogenic | 0.9761 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/D | 0.9732 | likely_pathogenic | 0.9765 | pathogenic | -2.092 | Highly Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| G/E | 0.9825 | likely_pathogenic | 0.9876 | pathogenic | -2.055 | Highly Destabilizing | 0.998 | D | 0.831 | deleterious | None | None | None | None | N |
| G/F | 0.9952 | likely_pathogenic | 0.9965 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/H | 0.9971 | likely_pathogenic | 0.9979 | pathogenic | -1.782 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/I | 0.9937 | likely_pathogenic | 0.9956 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/K | 0.9969 | likely_pathogenic | 0.9978 | pathogenic | -1.487 | Destabilizing | 0.996 | D | 0.838 | deleterious | None | None | None | None | N |
| G/L | 0.9926 | likely_pathogenic | 0.994 | pathogenic | -0.214 | Destabilizing | 0.998 | D | 0.807 | deleterious | None | None | None | None | N |
| G/M | 0.996 | likely_pathogenic | 0.9969 | pathogenic | -0.176 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/N | 0.9916 | likely_pathogenic | 0.9932 | pathogenic | -1.362 | Destabilizing | 0.998 | D | 0.845 | deleterious | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.402 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/Q | 0.992 | likely_pathogenic | 0.994 | pathogenic | -1.428 | Destabilizing | 0.998 | D | 0.827 | deleterious | None | None | None | None | N |
| G/R | 0.9906 | likely_pathogenic | 0.9937 | pathogenic | -1.268 | Destabilizing | 0.652 | D | 0.767 | deleterious | None | None | None | None | N |
| G/S | 0.8499 | likely_pathogenic | 0.8737 | pathogenic | -1.605 | Destabilizing | 0.997 | D | 0.862 | deleterious | None | None | None | None | N |
| G/T | 0.9848 | likely_pathogenic | 0.9874 | pathogenic | -1.49 | Destabilizing | 0.998 | D | 0.826 | deleterious | None | None | None | None | N |
| G/V | 0.9842 | likely_pathogenic | 0.989 | pathogenic | -0.402 | Destabilizing | 0.999 | D | 0.782 | deleterious | None | None | None | None | N |
| G/W | 0.9925 | likely_pathogenic | 0.995 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/Y | 0.995 | likely_pathogenic | 0.9962 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.819 | 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.