Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17083 | 51472;51473;51474 | chr2:178610279;178610278;178610277 | chr2:179475006;179475005;179475004 |
| N2AB | 15442 | 46549;46550;46551 | chr2:178610279;178610278;178610277 | chr2:179475006;179475005;179475004 |
| N2A | 14515 | 43768;43769;43770 | chr2:178610279;178610278;178610277 | chr2:179475006;179475005;179475004 |
| N2B | 8018 | 24277;24278;24279 | chr2:178610279;178610278;178610277 | chr2:179475006;179475005;179475004 |
| Novex-1 | 8143 | 24652;24653;24654 | chr2:178610279;178610278;178610277 | chr2:179475006;179475005;179475004 |
| Novex-2 | 8210 | 24853;24854;24855 | chr2:178610279;178610278;178610277 | chr2:179475006;179475005;179475004 |
| 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/F | rs746817480  |
-1.433 | 0.999 | N | 0.759 | 0.362 | None | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.48E-05 | 0 |
| V/F | rs746817480 |
-1.433 | 0.999 | N | 0.759 | 0.362 | None | gnomAD-3.1.2 | 7.24E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.61908E-04 | 0 | 0 |
| V/F | rs746817480 |
-1.433 | 0.999 | N | 0.759 | 0.362 | None | gnomAD-4.0.0 | 1.28966E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.67902E-04 | 1.09825E-05 | 1.44231E-04 |
| V/I | None | None | 0.973 | N | 0.601 | 0.223 | 0.562617508568 | gnomAD-4.0.0 | 6.84535E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99834E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.6108 | likely_pathogenic | 0.5874 | pathogenic | -2.343 | Highly Destabilizing | 0.973 | D | 0.635 | neutral | N | 0.462384384 | None | None | N |
| V/C | 0.84 | likely_pathogenic | 0.8429 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/D | 0.8715 | likely_pathogenic | 0.8793 | pathogenic | -3.248 | Highly Destabilizing | 0.998 | D | 0.762 | deleterious | D | 0.547972055 | None | None | N |
| V/E | 0.6758 | likely_pathogenic | 0.6602 | pathogenic | -3.022 | Highly Destabilizing | 0.999 | D | 0.727 | prob.delet. | None | None | None | None | N |
| V/F | 0.4542 | ambiguous | 0.429 | ambiguous | -1.452 | Destabilizing | 0.999 | D | 0.759 | deleterious | N | 0.468755725 | None | None | N |
| V/G | 0.7703 | likely_pathogenic | 0.7635 | pathogenic | -2.842 | Highly Destabilizing | 0.998 | D | 0.763 | deleterious | D | 0.541057785 | None | None | N |
| V/H | 0.8233 | likely_pathogenic | 0.8216 | pathogenic | -2.669 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| V/I | 0.0853 | likely_benign | 0.085 | benign | -0.921 | Destabilizing | 0.973 | D | 0.601 | neutral | N | 0.458879787 | None | None | N |
| V/K | 0.781 | likely_pathogenic | 0.7757 | pathogenic | -2.031 | Highly Destabilizing | 0.999 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/L | 0.4036 | ambiguous | 0.3711 | ambiguous | -0.921 | Destabilizing | 0.973 | D | 0.619 | neutral | N | 0.474343299 | None | None | N |
| V/M | 0.3028 | likely_benign | 0.2896 | benign | -0.884 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| V/N | 0.679 | likely_pathogenic | 0.6879 | pathogenic | -2.414 | Highly Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| V/P | 0.9947 | likely_pathogenic | 0.9953 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| V/Q | 0.6182 | likely_pathogenic | 0.5965 | pathogenic | -2.244 | Highly Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| V/R | 0.7524 | likely_pathogenic | 0.7359 | pathogenic | -1.785 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| V/S | 0.6089 | likely_pathogenic | 0.5974 | pathogenic | -2.917 | Highly Destabilizing | 0.995 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/T | 0.3958 | ambiguous | 0.3979 | ambiguous | -2.574 | Highly Destabilizing | 0.611 | D | 0.441 | neutral | None | None | None | None | N |
| V/W | 0.9578 | likely_pathogenic | 0.9593 | pathogenic | -2.083 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| V/Y | 0.8147 | likely_pathogenic | 0.8122 | pathogenic | -1.739 | Destabilizing | 1.0 | D | 0.774 | 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.