Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33366 | 100321;100322;100323 | chr2:178537013;178537012;178537011 | chr2:179401740;179401739;179401738 |
| N2AB | 31725 | 95398;95399;95400 | chr2:178537013;178537012;178537011 | chr2:179401740;179401739;179401738 |
| N2A | 30798 | 92617;92618;92619 | chr2:178537013;178537012;178537011 | chr2:179401740;179401739;179401738 |
| N2B | 24301 | 73126;73127;73128 | chr2:178537013;178537012;178537011 | chr2:179401740;179401739;179401738 |
| Novex-1 | 24426 | 73501;73502;73503 | chr2:178537013;178537012;178537011 | chr2:179401740;179401739;179401738 |
| Novex-2 | 24493 | 73702;73703;73704 | chr2:178537013;178537012;178537011 | chr2:179401740;179401739;179401738 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/F | None | None | 1.0 | D | 0.83 | 0.845 | 0.90526506023 | gnomAD-4.0.0 | 6.84472E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99653E-07 | 0 | 0 |
| V/I | rs55675869  |
-0.56 | 0.997 | N | 0.605 | 0.31 | None | gnomAD-2.1.1 | 2.76972E-02 | None | None | None | None | N | None | 4.81009E-03 | 3.32632E-02 | None | 1.49341E-02 | 6.60076E-02 | None | 6.61271E-03 | None | 6.40224E-02 | 2.35469E-02 | 2.87892E-02 |
| V/I | rs55675869 |
-0.56 | 0.997 | N | 0.605 | 0.31 | None | gnomAD-3.1.2 | 2.15954E-02 | None | None | None | None | N | None | 4.48842E-03 | 2.16737E-02 | 3.07018E-02 | 1.95853E-02 | 6.38996E-02 | None | 6.16877E-02 | 6.32911E-03 | 2.35337E-02 | 8.90269E-03 | 1.95985E-02 |
| V/I | rs55675869 |
-0.56 | 0.997 | N | 0.605 | 0.31 | None | 1000 genomes | 2.31629E-02 | None | None | None | None | N | None | 8E-04 | 2.45E-02 | None | None | 6.25E-02 | 2.78E-02 | None | None | None | 7.2E-03 | None |
| V/I | rs55675869 |
-0.56 | 0.997 | N | 0.605 | 0.31 | None | gnomAD-4.0.0 | 2.36062E-02 | None | None | None | None | N | None | 4.29276E-03 | 2.92046E-02 | None | 1.52744E-02 | 6.39807E-02 | None | 6.25782E-02 | 1.0066E-02 | 2.24961E-02 | 7.29052E-03 | 2.24165E-02 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.948 | likely_pathogenic | 0.9457 | pathogenic | -2.731 | Highly Destabilizing | 0.999 | D | 0.619 | neutral | D | 0.543427314 | None | None | N |
| V/C | 0.9854 | likely_pathogenic | 0.9848 | pathogenic | -2.147 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| V/D | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -3.624 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.636912935 | None | None | N |
| V/E | 0.9973 | likely_pathogenic | 0.9971 | pathogenic | -3.312 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/F | 0.9716 | likely_pathogenic | 0.9587 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.572887874 | None | None | N |
| V/G | 0.9726 | likely_pathogenic | 0.9736 | pathogenic | -3.302 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.636912935 | None | None | N |
| V/H | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -3.095 | Highly Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| V/I | 0.147 | likely_benign | 0.109 | benign | -1.045 | Destabilizing | 0.997 | D | 0.605 | neutral | N | 0.504838367 | None | None | N |
| V/K | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -2.3 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/L | 0.9042 | likely_pathogenic | 0.8831 | pathogenic | -1.045 | Destabilizing | 0.997 | D | 0.632 | neutral | N | 0.51583595 | None | None | N |
| V/M | 0.9424 | likely_pathogenic | 0.9259 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| V/N | 0.9972 | likely_pathogenic | 0.997 | pathogenic | -2.979 | Highly Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| V/P | 0.9978 | likely_pathogenic | 0.9976 | pathogenic | -1.593 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| V/Q | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -2.625 | Highly Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| V/R | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -2.299 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| V/S | 0.9887 | likely_pathogenic | 0.9884 | pathogenic | -3.449 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| V/T | 0.9652 | likely_pathogenic | 0.9656 | pathogenic | -2.994 | Highly Destabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| V/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.08 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| V/Y | 0.9978 | likely_pathogenic | 0.9972 | pathogenic | -1.87 | Destabilizing | 1.0 | D | 0.826 | 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.