Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30629 | 92110;92111;92112 | chr2:178549837;178549836;178549835 | chr2:179414564;179414563;179414562 |
| N2AB | 28988 | 87187;87188;87189 | chr2:178549837;178549836;178549835 | chr2:179414564;179414563;179414562 |
| N2A | 28061 | 84406;84407;84408 | chr2:178549837;178549836;178549835 | chr2:179414564;179414563;179414562 |
| N2B | 21564 | 64915;64916;64917 | chr2:178549837;178549836;178549835 | chr2:179414564;179414563;179414562 |
| Novex-1 | 21689 | 65290;65291;65292 | chr2:178549837;178549836;178549835 | chr2:179414564;179414563;179414562 |
| Novex-2 | 21756 | 65491;65492;65493 | chr2:178549837;178549836;178549835 | chr2:179414564;179414563;179414562 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1231209607  |
-0.448 | 0.999 | N | 0.603 | 0.457 | 0.500678981321 | gnomAD-2.1.1 | 4.29E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.32E-06 | 0 |
| F/L | rs1231209607 |
-0.448 | 0.999 | N | 0.603 | 0.457 | 0.500678981321 | gnomAD-4.0.0 | 6.96046E-06 | None | None | None | None | N | None | 0 | 2.39659E-05 | None | 0 | 0 | None | 0 | 1.77242E-04 | 6.37215E-06 | 0 | 1.69147E-05 |
| F/S | rs777327992 |
-2.31 | 1.0 | N | 0.866 | 0.53 | 0.792038911148 | gnomAD-2.1.1 | 8.58E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 7.52E-05 | None | 0 | 0 | 0 |
| F/S | rs777327992 |
-2.31 | 1.0 | N | 0.866 | 0.53 | 0.792038911148 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| F/S | rs777327992 |
-2.31 | 1.0 | N | 0.866 | 0.53 | 0.792038911148 | gnomAD-4.0.0 | 5.66355E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71443E-06 | 6.89417E-05 | 1.63276E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.912 | likely_pathogenic | 0.9466 | pathogenic | -2.521 | Highly Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| F/C | 0.5366 | ambiguous | 0.6455 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.468151556 | None | None | N |
| F/D | 0.9886 | likely_pathogenic | 0.9942 | pathogenic | -2.153 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| F/E | 0.9861 | likely_pathogenic | 0.9927 | pathogenic | -1.962 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| F/G | 0.9698 | likely_pathogenic | 0.9818 | pathogenic | -2.954 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| F/H | 0.8908 | likely_pathogenic | 0.9281 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| F/I | 0.3636 | ambiguous | 0.5051 | ambiguous | -1.145 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.377201478 | None | None | N |
| F/K | 0.9758 | likely_pathogenic | 0.9872 | pathogenic | -2.005 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/L | 0.9381 | likely_pathogenic | 0.9645 | pathogenic | -1.145 | Destabilizing | 0.999 | D | 0.603 | neutral | N | 0.449293649 | None | None | N |
| F/M | 0.7516 | likely_pathogenic | 0.8065 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/N | 0.9487 | likely_pathogenic | 0.9712 | pathogenic | -2.388 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/P | 0.99 | likely_pathogenic | 0.9936 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/Q | 0.9683 | likely_pathogenic | 0.9804 | pathogenic | -2.305 | Highly Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| F/R | 0.9594 | likely_pathogenic | 0.9783 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| F/S | 0.9072 | likely_pathogenic | 0.9507 | pathogenic | -3.147 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.481892624 | None | None | N |
| F/T | 0.9156 | likely_pathogenic | 0.952 | pathogenic | -2.841 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| F/V | 0.437 | ambiguous | 0.5677 | pathogenic | -1.609 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.338525659 | None | None | N |
| F/W | 0.7504 | likely_pathogenic | 0.8113 | pathogenic | -0.189 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| F/Y | 0.3126 | likely_benign | 0.3686 | ambiguous | -0.559 | Destabilizing | 0.999 | D | 0.614 | neutral | N | 0.489873622 | 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.