Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14062 | 42409;42410;42411 | chr2:178634597;178634596;178634595 | chr2:179499324;179499323;179499322 |
| N2AB | 12421 | 37486;37487;37488 | chr2:178634597;178634596;178634595 | chr2:179499324;179499323;179499322 |
| N2A | 11494 | 34705;34706;34707 | chr2:178634597;178634596;178634595 | chr2:179499324;179499323;179499322 |
| N2B | 4997 | 15214;15215;15216 | chr2:178634597;178634596;178634595 | chr2:179499324;179499323;179499322 |
| Novex-1 | 5122 | 15589;15590;15591 | chr2:178634597;178634596;178634595 | chr2:179499324;179499323;179499322 |
| Novex-2 | 5189 | 15790;15791;15792 | chr2:178634597;178634596;178634595 | chr2:179499324;179499323;179499322 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | rs1282444173  |
-0.04 | 1.0 | D | 0.801 | 0.527 | 0.372446077551 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| D/A | rs1282444173 |
-0.04 | 1.0 | D | 0.801 | 0.527 | 0.372446077551 | gnomAD-4.0.0 | 6.84392E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52143E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | None | None | 1.0 | D | 0.429 | 0.351 | 0.249502417897 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8602E-06 | 0 | 0 |
| D/G | None | None | 1.0 | D | 0.779 | 0.558 | 0.337868961071 | gnomAD-4.0.0 | 1.36878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79932E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.7867 | likely_pathogenic | 0.8318 | pathogenic | -0.373 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.532556308 | None | None | N |
| D/C | 0.9886 | likely_pathogenic | 0.9911 | pathogenic | -0.224 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/E | 0.6811 | likely_pathogenic | 0.7226 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.429 | neutral | D | 0.530382672 | None | None | N |
| D/F | 0.9901 | likely_pathogenic | 0.9933 | pathogenic | 0.303 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/G | 0.7768 | likely_pathogenic | 0.8195 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.564823316 | None | None | N |
| D/H | 0.9308 | likely_pathogenic | 0.9378 | pathogenic | 0.389 | Stabilizing | 1.0 | D | 0.783 | deleterious | D | 0.598076951 | None | None | N |
| D/I | 0.975 | likely_pathogenic | 0.9837 | pathogenic | 0.507 | Stabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/K | 0.97 | likely_pathogenic | 0.9758 | pathogenic | 0.03 | Stabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| D/L | 0.9727 | likely_pathogenic | 0.9825 | pathogenic | 0.507 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/M | 0.9882 | likely_pathogenic | 0.9926 | pathogenic | 0.647 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/N | 0.3953 | ambiguous | 0.393 | ambiguous | -0.636 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.454767663 | None | None | N |
| D/P | 0.9091 | likely_pathogenic | 0.9372 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| D/Q | 0.9638 | likely_pathogenic | 0.9706 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| D/R | 0.9783 | likely_pathogenic | 0.9838 | pathogenic | 0.382 | Stabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| D/S | 0.6894 | likely_pathogenic | 0.7102 | pathogenic | -0.823 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/T | 0.9068 | likely_pathogenic | 0.9311 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/V | 0.9209 | likely_pathogenic | 0.9483 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.853 | deleterious | D | 0.566849455 | None | None | N |
| D/W | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | 0.585 | Stabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/Y | 0.9019 | likely_pathogenic | 0.925 | pathogenic | 0.594 | Stabilizing | 1.0 | D | 0.821 | deleterious | D | 0.659361791 | 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.