Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33610 | 101053;101054;101055 | chr2:178535787;178535786;178535785 | chr2:179400514;179400513;179400512 |
| N2AB | 31969 | 96130;96131;96132 | chr2:178535787;178535786;178535785 | chr2:179400514;179400513;179400512 |
| N2A | 31042 | 93349;93350;93351 | chr2:178535787;178535786;178535785 | chr2:179400514;179400513;179400512 |
| N2B | 24545 | 73858;73859;73860 | chr2:178535787;178535786;178535785 | chr2:179400514;179400513;179400512 |
| Novex-1 | 24670 | 74233;74234;74235 | chr2:178535787;178535786;178535785 | chr2:179400514;179400513;179400512 |
| Novex-2 | 24737 | 74434;74435;74436 | chr2:178535787;178535786;178535785 | chr2:179400514;179400513;179400512 |
| 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 | rs373754986  |
-0.635 | 1.0 | D | 0.867 | 0.854 | None | gnomAD-2.1.1 | 6.81E-05 | None | None | None | None | N | None | 0 | 4.53258E-04 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 1.57E-05 | 0 |
| G/D | rs373754986 |
-0.635 | 1.0 | D | 0.867 | 0.854 | None | gnomAD-3.1.2 | 2.04063E-04 | None | None | None | None | N | None | 0 | 1.96721E-03 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs373754986 |
-0.635 | 1.0 | D | 0.867 | 0.854 | None | gnomAD-4.0.0 | 4.03101E-05 | None | None | None | None | N | None | 0 | 7.83882E-04 | None | 0 | 2.22965E-05 | None | 0 | 1.64474E-04 | 1.35639E-05 | 0 | 0 |
| G/V | rs373754986 |
-0.257 | 1.0 | D | 0.835 | 0.859 | 0.756087935573 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.71E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs373754986 |
-0.257 | 1.0 | D | 0.835 | 0.859 | 0.756087935573 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs373754986 |
-0.257 | 1.0 | D | 0.835 | 0.859 | 0.756087935573 | gnomAD-4.0.0 | 2.48062E-06 | None | None | None | None | N | None | 0 | 6.67111E-05 | None | 0 | 0 | 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 | 0.7515 | likely_pathogenic | 0.683 | pathogenic | -0.433 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.586215293 | None | None | N |
| G/C | 0.8532 | likely_pathogenic | 0.7848 | pathogenic | -0.926 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.596107292 | None | None | N |
| G/D | 0.5582 | ambiguous | 0.4505 | ambiguous | -0.649 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.584600859 | None | None | N |
| G/E | 0.7402 | likely_pathogenic | 0.6317 | pathogenic | -0.792 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/F | 0.9838 | likely_pathogenic | 0.9768 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/H | 0.883 | likely_pathogenic | 0.8328 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/I | 0.9865 | likely_pathogenic | 0.9793 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/K | 0.9189 | likely_pathogenic | 0.8548 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/L | 0.9733 | likely_pathogenic | 0.9606 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.9756 | likely_pathogenic | 0.9662 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| G/N | 0.6031 | likely_pathogenic | 0.5232 | ambiguous | -0.669 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| G/P | 0.997 | likely_pathogenic | 0.9956 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Q | 0.8421 | likely_pathogenic | 0.7779 | pathogenic | -0.938 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/R | 0.8742 | likely_pathogenic | 0.789 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.595703684 | None | None | N |
| G/S | 0.3863 | ambiguous | 0.3264 | benign | -0.856 | Destabilizing | 1.0 | D | 0.854 | deleterious | D | 0.574173092 | None | None | N |
| G/T | 0.8274 | likely_pathogenic | 0.7712 | pathogenic | -0.925 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/V | 0.9656 | likely_pathogenic | 0.9455 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.612157014 | None | None | N |
| G/W | 0.9442 | likely_pathogenic | 0.9135 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/Y | 0.9492 | likely_pathogenic | 0.9224 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.849 | 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.