Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34423 | 103492;103493;103494 | chr2:178533348;178533347;178533346 | chr2:179398075;179398074;179398073 |
| N2AB | 32782 | 98569;98570;98571 | chr2:178533348;178533347;178533346 | chr2:179398075;179398074;179398073 |
| N2A | 31855 | 95788;95789;95790 | chr2:178533348;178533347;178533346 | chr2:179398075;179398074;179398073 |
| N2B | 25358 | 76297;76298;76299 | chr2:178533348;178533347;178533346 | chr2:179398075;179398074;179398073 |
| Novex-1 | 25483 | 76672;76673;76674 | chr2:178533348;178533347;178533346 | chr2:179398075;179398074;179398073 |
| Novex-2 | 25550 | 76873;76874;76875 | chr2:178533348;178533347;178533346 | chr2:179398075;179398074;179398073 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/S | rs756074712  |
-3.597 | 0.997 | D | 0.848 | 0.903 | 0.881115435736 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63388E-04 | None | 0 | 0 | 0 |
| I/S | rs756074712 |
-3.597 | 0.997 | D | 0.848 | 0.903 | 0.881115435736 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.14079E-04 | 0 |
| I/S | rs756074712 |
-3.597 | 0.997 | D | 0.848 | 0.903 | 0.881115435736 | gnomAD-4.0.0 | 9.29617E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.64676E-04 | 0 |
| I/V | rs777746298 |
-1.681 | 0.198 | D | 0.249 | 0.416 | 0.540606920606 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.68E-05 | 1.77E-05 | 0 |
| I/V | rs777746298 |
-1.681 | 0.198 | D | 0.249 | 0.416 | 0.540606920606 | gnomAD-4.0.0 | 1.11413E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.78372E-05 | 0 | 1.14305E-05 | 0 | 3.02407E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9926 | likely_pathogenic | 0.9933 | pathogenic | -2.903 | Highly Destabilizing | 0.983 | D | 0.703 | prob.neutral | None | None | None | None | N |
| I/C | 0.9841 | likely_pathogenic | 0.9833 | pathogenic | -2.513 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| I/D | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -3.353 | Highly Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| I/E | 0.9979 | likely_pathogenic | 0.9984 | pathogenic | -3.063 | Highly Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| I/F | 0.7983 | likely_pathogenic | 0.7853 | pathogenic | -1.796 | Destabilizing | 0.997 | D | 0.737 | prob.delet. | D | 0.57829313 | None | None | N |
| I/G | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -3.526 | Highly Destabilizing | 0.999 | D | 0.874 | deleterious | None | None | None | None | N |
| I/H | 0.9952 | likely_pathogenic | 0.9956 | pathogenic | -3.036 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| I/K | 0.9933 | likely_pathogenic | 0.9946 | pathogenic | -2.361 | Highly Destabilizing | 0.999 | D | 0.87 | deleterious | None | None | None | None | N |
| I/L | 0.4475 | ambiguous | 0.4537 | ambiguous | -1.065 | Destabilizing | 0.798 | D | 0.401 | neutral | D | 0.537887557 | None | None | N |
| I/M | 0.6029 | likely_pathogenic | 0.5974 | pathogenic | -1.229 | Destabilizing | 0.997 | D | 0.681 | prob.neutral | D | 0.600641657 | None | None | N |
| I/N | 0.9915 | likely_pathogenic | 0.9924 | pathogenic | -2.914 | Highly Destabilizing | 0.999 | D | 0.872 | deleterious | D | 0.618073648 | None | None | N |
| I/P | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -1.663 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| I/Q | 0.995 | likely_pathogenic | 0.9958 | pathogenic | -2.659 | Highly Destabilizing | 0.999 | D | 0.88 | deleterious | None | None | None | None | N |
| I/R | 0.9893 | likely_pathogenic | 0.9917 | pathogenic | -2.184 | Highly Destabilizing | 0.999 | D | 0.879 | deleterious | None | None | None | None | N |
| I/S | 0.9914 | likely_pathogenic | 0.9932 | pathogenic | -3.652 | Highly Destabilizing | 0.997 | D | 0.848 | deleterious | D | 0.64361176 | None | None | N |
| I/T | 0.9906 | likely_pathogenic | 0.9907 | pathogenic | -3.187 | Highly Destabilizing | 0.978 | D | 0.769 | deleterious | D | 0.610937264 | None | None | N |
| I/V | 0.2718 | likely_benign | 0.2706 | benign | -1.663 | Destabilizing | 0.198 | N | 0.249 | neutral | D | 0.543630952 | None | None | N |
| I/W | 0.9947 | likely_pathogenic | 0.9951 | pathogenic | -2.182 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| I/Y | 0.9816 | likely_pathogenic | 0.9834 | pathogenic | -1.934 | Destabilizing | 0.999 | D | 0.751 | 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.