Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29717 | 89374;89375;89376 | chr2:178553962;178553961;178553960 | chr2:179418689;179418688;179418687 |
| N2AB | 28076 | 84451;84452;84453 | chr2:178553962;178553961;178553960 | chr2:179418689;179418688;179418687 |
| N2A | 27149 | 81670;81671;81672 | chr2:178553962;178553961;178553960 | chr2:179418689;179418688;179418687 |
| N2B | 20652 | 62179;62180;62181 | chr2:178553962;178553961;178553960 | chr2:179418689;179418688;179418687 |
| Novex-1 | 20777 | 62554;62555;62556 | chr2:178553962;178553961;178553960 | chr2:179418689;179418688;179418687 |
| Novex-2 | 20844 | 62755;62756;62757 | chr2:178553962;178553961;178553960 | chr2:179418689;179418688;179418687 |
| 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/D | None | None | 1.0 | D | 0.87 | 0.732 | 0.5864806356 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| G/R | rs751391249  |
-0.761 | 1.0 | D | 0.899 | 0.758 | 0.837458232417 | gnomAD-2.1.1 | 2.45E-05 | None | None | None | None | I | None | 0 | 2.92E-05 | None | 0 | 0 | None | 1.66168E-04 | None | 0 | 0 | 0 |
| G/R | rs751391249 |
-0.761 | 1.0 | D | 0.899 | 0.758 | 0.837458232417 | gnomAD-4.0.0 | 6.17602E-06 | None | None | None | None | I | None | 0 | 2.25012E-05 | None | 0 | 0 | None | 0 | 0 | 1.80039E-06 | 6.99382E-05 | 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 | 0.8738 | likely_pathogenic | 0.8664 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | D | 0.553520538 | None | None | I |
| G/C | 0.9781 | likely_pathogenic | 0.9789 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.555294965 | None | None | I |
| G/D | 0.9937 | likely_pathogenic | 0.9931 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.554281007 | None | None | I |
| G/E | 0.995 | likely_pathogenic | 0.9947 | pathogenic | -1.697 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/F | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/H | 0.9979 | likely_pathogenic | 0.9976 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/I | 0.9951 | likely_pathogenic | 0.9952 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/K | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/L | 0.9937 | likely_pathogenic | 0.9938 | pathogenic | -0.282 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/M | 0.9965 | likely_pathogenic | 0.9965 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/N | 0.994 | likely_pathogenic | 0.9938 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/Q | 0.9969 | likely_pathogenic | 0.9967 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/R | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -1.049 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.536430242 | None | None | I |
| G/S | 0.6893 | likely_pathogenic | 0.6616 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.46193766 | None | None | I |
| G/T | 0.977 | likely_pathogenic | 0.9768 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/V | 0.9913 | likely_pathogenic | 0.9913 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.543267097 | None | None | I |
| G/W | 0.9967 | likely_pathogenic | 0.9965 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | I |
| G/Y | 0.9965 | likely_pathogenic | 0.996 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
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.