Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32722 | 98389;98390;98391 | chr2:178539901;178539900;178539899 | chr2:179404628;179404627;179404626 |
| N2AB | 31081 | 93466;93467;93468 | chr2:178539901;178539900;178539899 | chr2:179404628;179404627;179404626 |
| N2A | 30154 | 90685;90686;90687 | chr2:178539901;178539900;178539899 | chr2:179404628;179404627;179404626 |
| N2B | 23657 | 71194;71195;71196 | chr2:178539901;178539900;178539899 | chr2:179404628;179404627;179404626 |
| Novex-1 | 23782 | 71569;71570;71571 | chr2:178539901;178539900;178539899 | chr2:179404628;179404627;179404626 |
| Novex-2 | 23849 | 71770;71771;71772 | chr2:178539901;178539900;178539899 | chr2:179404628;179404627;179404626 |
| 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/F | rs72648270  |
-1.133 | 0.998 | N | 0.673 | 0.18 | None | gnomAD-2.1.1 | 2.57618E-02 | None | None | None | None | I | None | 3.67769E-03 | 2.62518E-02 | None | 2.23361E-02 | 1.55699E-01 | None | 1.34305E-02 | None | 2.95858E-03 | 1.76198E-02 | 2.68033E-02 |
| I/F | rs72648270 |
-1.133 | 0.998 | N | 0.673 | 0.18 | None | gnomAD-3.1.2 | 1.84986E-02 | None | None | None | None | I | None | 4.36607E-03 | 2.73668E-02 | 4.38597E-03 | 2.36448E-02 | 1.46445E-01 | None | 1.60075E-03 | 5.06329E-02 | 1.77149E-02 | 1.24069E-02 | 3.53391E-02 |
| I/F | rs72648270 |
-1.133 | 0.998 | N | 0.673 | 0.18 | None | 1000 genomes | 4.25319E-02 | None | None | None | None | I | None | 1.5E-03 | 2.88E-02 | None | None | 1.488E-01 | 2.98E-02 | None | None | None | 1.12E-02 | None |
| I/F | rs72648270 |
-1.133 | 0.998 | N | 0.673 | 0.18 | None | gnomAD-4.0.0 | 2.16917E-02 | None | None | None | None | I | None | 4.22385E-03 | 2.72112E-02 | None | 2.28056E-02 | 1.61874E-01 | None | 2.87437E-03 | 7.50825E-02 | 1.83841E-02 | 1.32836E-02 | 2.52721E-02 |
| I/L | None | None | 0.889 | N | 0.383 | 0.164 | 0.294561560033 | gnomAD-4.0.0 | 1.3684E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99471E-07 | 0 | 1.65662E-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 | 0.9299 | likely_pathogenic | 0.9304 | pathogenic | -2.684 | Highly Destabilizing | 0.992 | D | 0.586 | neutral | None | None | None | None | I |
| I/C | 0.9429 | likely_pathogenic | 0.9436 | pathogenic | -1.944 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| I/D | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -3.316 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| I/E | 0.9962 | likely_pathogenic | 0.9966 | pathogenic | -3.018 | Highly Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | I |
| I/F | 0.5306 | ambiguous | 0.4684 | ambiguous | -1.595 | Destabilizing | 0.998 | D | 0.673 | neutral | N | 0.501962193 | None | None | I |
| I/G | 0.9914 | likely_pathogenic | 0.9915 | pathogenic | -3.284 | Highly Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| I/H | 0.9926 | likely_pathogenic | 0.9927 | pathogenic | -2.785 | Highly Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| I/K | 0.9903 | likely_pathogenic | 0.9908 | pathogenic | -2.32 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| I/L | 0.2178 | likely_benign | 0.213 | benign | -0.911 | Destabilizing | 0.889 | D | 0.383 | neutral | N | 0.46921227 | None | None | I |
| I/M | 0.3025 | likely_benign | 0.2909 | benign | -0.88 | Destabilizing | 0.998 | D | 0.656 | neutral | N | 0.464619337 | None | None | I |
| I/N | 0.9836 | likely_pathogenic | 0.984 | pathogenic | -2.922 | Highly Destabilizing | 0.999 | D | 0.803 | deleterious | N | 0.494586877 | None | None | I |
| I/P | 0.9947 | likely_pathogenic | 0.9954 | pathogenic | -1.488 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| I/Q | 0.9893 | likely_pathogenic | 0.9896 | pathogenic | -2.649 | Highly Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| I/R | 0.9856 | likely_pathogenic | 0.9862 | pathogenic | -2.181 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| I/S | 0.9734 | likely_pathogenic | 0.9759 | pathogenic | -3.559 | Highly Destabilizing | 0.998 | D | 0.763 | deleterious | N | 0.494333387 | None | None | I |
| I/T | 0.9492 | likely_pathogenic | 0.9532 | pathogenic | -3.096 | Highly Destabilizing | 0.989 | D | 0.715 | prob.delet. | N | 0.464365848 | None | None | I |
| I/V | 0.1439 | likely_benign | 0.1577 | benign | -1.488 | Destabilizing | 0.333 | N | 0.255 | neutral | N | 0.426824142 | None | None | I |
| I/W | 0.9882 | likely_pathogenic | 0.9875 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| I/Y | 0.9602 | likely_pathogenic | 0.9585 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | None | None | I |
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.