Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16779 | 50560;50561;50562 | chr2:178612076;178612075;178612074 | chr2:179476803;179476802;179476801 |
| N2AB | 15138 | 45637;45638;45639 | chr2:178612076;178612075;178612074 | chr2:179476803;179476802;179476801 |
| N2A | 14211 | 42856;42857;42858 | chr2:178612076;178612075;178612074 | chr2:179476803;179476802;179476801 |
| N2B | 7714 | 23365;23366;23367 | chr2:178612076;178612075;178612074 | chr2:179476803;179476802;179476801 |
| Novex-1 | 7839 | 23740;23741;23742 | chr2:178612076;178612075;178612074 | chr2:179476803;179476802;179476801 |
| Novex-2 | 7906 | 23941;23942;23943 | chr2:178612076;178612075;178612074 | chr2:179476803;179476802;179476801 |
| 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 | rs1328033187  |
-1.005 | 1.0 | D | 0.836 | 0.492 | 0.426084969639 | gnomAD-2.1.1 | 4.07E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.99E-06 | 0 |
| G/D | rs1328033187 |
-1.005 | 1.0 | D | 0.836 | 0.492 | 0.426084969639 | gnomAD-4.0.0 | 1.59717E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86656E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9548 | likely_pathogenic | 0.9686 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.657830571 | None | None | I |
| G/C | 0.9899 | likely_pathogenic | 0.9931 | pathogenic | -0.726 | Destabilizing | 1.0 | D | 0.803 | deleterious | D | 0.719587969 | None | None | I |
| G/D | 0.997 | likely_pathogenic | 0.9978 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.654452882 | None | None | I |
| G/E | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/F | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/H | 0.9988 | likely_pathogenic | 0.9992 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| G/I | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/K | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9981 | likely_pathogenic | 0.9987 | pathogenic | -0.472 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/M | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/N | 0.9964 | likely_pathogenic | 0.9974 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/Q | 0.9982 | likely_pathogenic | 0.9987 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.9951 | likely_pathogenic | 0.9962 | pathogenic | -0.252 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.583604406 | None | None | I |
| G/S | 0.9607 | likely_pathogenic | 0.973 | pathogenic | -0.429 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.677304483 | None | None | I |
| G/T | 0.995 | likely_pathogenic | 0.9965 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -0.378 | Destabilizing | 1.0 | D | 0.838 | deleterious | D | 0.681815604 | None | None | I |
| G/W | 0.9977 | likely_pathogenic | 0.9982 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/Y | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.941 | Destabilizing | 1.0 | D | 0.807 | 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.