Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27794 | 83605;83606;83607 | chr2:178562752;178562751;178562750 | chr2:179427479;179427478;179427477 |
| N2AB | 26153 | 78682;78683;78684 | chr2:178562752;178562751;178562750 | chr2:179427479;179427478;179427477 |
| N2A | 25226 | 75901;75902;75903 | chr2:178562752;178562751;178562750 | chr2:179427479;179427478;179427477 |
| N2B | 18729 | 56410;56411;56412 | chr2:178562752;178562751;178562750 | chr2:179427479;179427478;179427477 |
| Novex-1 | 18854 | 56785;56786;56787 | chr2:178562752;178562751;178562750 | chr2:179427479;179427478;179427477 |
| Novex-2 | 18921 | 56986;56987;56988 | chr2:178562752;178562751;178562750 | chr2:179427479;179427478;179427477 |
| 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 | N | 0.827 | 0.716 | 0.405700215632 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.801 | 0.595 | 0.352476196916 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92753E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | None | None | 1.0 | N | 0.801 | 0.595 | 0.352476196916 | gnomAD-4.0.0 | 2.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.13404E-04 | None | 0 | 0 | 1.20494E-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 | 0.9756 | likely_pathogenic | 0.9785 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | D | 0.527518428 | None | None | I |
| G/C | 0.9946 | likely_pathogenic | 0.9957 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.555283922 | None | None | I |
| G/D | 0.9987 | likely_pathogenic | 0.9992 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.520401631 | None | None | I |
| G/E | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.61 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/F | 0.9995 | likely_pathogenic | 0.9995 | pathogenic | -1.108 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/H | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/I | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/K | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/L | 0.999 | likely_pathogenic | 0.9992 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/M | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/N | 0.9987 | likely_pathogenic | 0.9991 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/Q | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/R | 0.9964 | likely_pathogenic | 0.9975 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.506198169 | None | None | I |
| G/S | 0.9744 | likely_pathogenic | 0.9777 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.801 | deleterious | N | 0.514894675 | None | None | I |
| G/T | 0.9969 | likely_pathogenic | 0.9973 | pathogenic | -0.725 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/V | 0.9982 | likely_pathogenic | 0.9986 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.531899748 | None | None | I |
| G/W | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.288 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/Y | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.789 | 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.