Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31745 | 95458;95459;95460 | chr2:178546003;178546002;178546001 | chr2:179410730;179410729;179410728 |
| N2AB | 30104 | 90535;90536;90537 | chr2:178546003;178546002;178546001 | chr2:179410730;179410729;179410728 |
| N2A | 29177 | 87754;87755;87756 | chr2:178546003;178546002;178546001 | chr2:179410730;179410729;179410728 |
| N2B | 22680 | 68263;68264;68265 | chr2:178546003;178546002;178546001 | chr2:179410730;179410729;179410728 |
| Novex-1 | 22805 | 68638;68639;68640 | chr2:178546003;178546002;178546001 | chr2:179410730;179410729;179410728 |
| Novex-2 | 22872 | 68839;68840;68841 | chr2:178546003;178546002;178546001 | chr2:179410730;179410729;179410728 |
| 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/G | rs886042114  |
None | 0.983 | D | 0.899 | 0.724 | 0.896930761969 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/G | rs886042114 |
None | 0.983 | D | 0.899 | 0.724 | 0.896930761969 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| V/L | None | None | 0.598 | N | 0.493 | 0.208 | 0.571897645862 | gnomAD-4.0.0 | 6.84225E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.87294E-05 | 0 | 0 | 0 | 0 |
| V/M | rs377191543 |
-1.212 | 0.994 | D | 0.693 | 0.507 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 8.26E-05 | 2.83E-05 | None | 0 | 1.02764E-04 | None | 3.27E-05 | None | 4E-05 | 2.35E-05 | 0 |
| V/M | rs377191543 |
-1.212 | 0.994 | D | 0.693 | 0.507 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs377191543 |
-1.212 | 0.994 | D | 0.693 | 0.507 | None | gnomAD-4.0.0 | 1.79711E-05 | None | None | None | None | N | None | 8.00918E-05 | 1.66683E-05 | None | 0 | 4.45891E-05 | None | 1.56211E-05 | 0 | 1.35619E-05 | 3.2933E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7146 | likely_pathogenic | 0.6581 | pathogenic | -2.386 | Highly Destabilizing | 0.892 | D | 0.609 | neutral | D | 0.553985654 | None | None | N |
| V/C | 0.9364 | likely_pathogenic | 0.9179 | pathogenic | -1.872 | Destabilizing | 0.999 | D | 0.796 | deleterious | None | None | None | None | N |
| V/D | 0.9978 | likely_pathogenic | 0.9971 | pathogenic | -3.429 | Highly Destabilizing | 0.996 | D | 0.891 | deleterious | None | None | None | None | N |
| V/E | 0.9909 | likely_pathogenic | 0.9889 | pathogenic | -3.113 | Highly Destabilizing | 0.994 | D | 0.887 | deleterious | D | 0.566102428 | None | None | N |
| V/F | 0.8085 | likely_pathogenic | 0.7689 | pathogenic | -1.357 | Destabilizing | 0.975 | D | 0.81 | deleterious | None | None | None | None | N |
| V/G | 0.9232 | likely_pathogenic | 0.901 | pathogenic | -2.992 | Highly Destabilizing | 0.983 | D | 0.899 | deleterious | D | 0.566102428 | None | None | N |
| V/H | 0.9959 | likely_pathogenic | 0.995 | pathogenic | -2.921 | Highly Destabilizing | 0.999 | D | 0.883 | deleterious | None | None | None | None | N |
| V/I | 0.073 | likely_benign | 0.0692 | benign | -0.622 | Destabilizing | 0.033 | N | 0.254 | neutral | None | None | None | None | N |
| V/K | 0.9891 | likely_pathogenic | 0.9893 | pathogenic | -2.036 | Highly Destabilizing | 0.987 | D | 0.889 | deleterious | None | None | None | None | N |
| V/L | 0.2823 | likely_benign | 0.2445 | benign | -0.622 | Destabilizing | 0.598 | D | 0.493 | neutral | N | 0.500981624 | None | None | N |
| V/M | 0.4794 | ambiguous | 0.4185 | ambiguous | -0.874 | Destabilizing | 0.994 | D | 0.693 | prob.neutral | D | 0.536134889 | None | None | N |
| V/N | 0.9914 | likely_pathogenic | 0.9873 | pathogenic | -2.703 | Highly Destabilizing | 0.996 | D | 0.901 | deleterious | None | None | None | None | N |
| V/P | 0.9836 | likely_pathogenic | 0.981 | pathogenic | -1.191 | Destabilizing | 0.996 | D | 0.889 | deleterious | None | None | None | None | N |
| V/Q | 0.986 | likely_pathogenic | 0.9834 | pathogenic | -2.352 | Highly Destabilizing | 0.996 | D | 0.903 | deleterious | None | None | None | None | N |
| V/R | 0.9796 | likely_pathogenic | 0.9798 | pathogenic | -2.088 | Highly Destabilizing | 0.996 | D | 0.905 | deleterious | None | None | None | None | N |
| V/S | 0.9522 | likely_pathogenic | 0.9346 | pathogenic | -3.211 | Highly Destabilizing | 0.987 | D | 0.886 | deleterious | None | None | None | None | N |
| V/T | 0.7765 | likely_pathogenic | 0.7233 | pathogenic | -2.74 | Highly Destabilizing | 0.916 | D | 0.68 | prob.neutral | None | None | None | None | N |
| V/W | 0.9941 | likely_pathogenic | 0.993 | pathogenic | -1.982 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/Y | 0.9845 | likely_pathogenic | 0.9805 | pathogenic | -1.64 | Destabilizing | 0.987 | D | 0.813 | 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.