Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16702 | 50329;50330;50331 | chr2:178612421;178612420;178612419 | chr2:179477148;179477147;179477146 |
| N2AB | 15061 | 45406;45407;45408 | chr2:178612421;178612420;178612419 | chr2:179477148;179477147;179477146 |
| N2A | 14134 | 42625;42626;42627 | chr2:178612421;178612420;178612419 | chr2:179477148;179477147;179477146 |
| N2B | 7637 | 23134;23135;23136 | chr2:178612421;178612420;178612419 | chr2:179477148;179477147;179477146 |
| Novex-1 | 7762 | 23509;23510;23511 | chr2:178612421;178612420;178612419 | chr2:179477148;179477147;179477146 |
| Novex-2 | 7829 | 23710;23711;23712 | chr2:178612421;178612420;178612419 | chr2:179477148;179477147;179477146 |
| 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/N | rs1417347726  |
-0.741 | 1.0 | N | 0.651 | 0.374 | 0.218112801441 | gnomAD-2.1.1 | 7.19E-06 | None | None | None | None | N | None | 0 | 2.84E-05 | None | 0 | 0 | None | 0 | None | 0 | 7.88E-06 | 0 |
| D/N | rs1417347726 |
-0.741 | 1.0 | N | 0.651 | 0.374 | 0.218112801441 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs1417347726 |
-0.741 | 1.0 | N | 0.651 | 0.374 | 0.218112801441 | gnomAD-4.0.0 | 2.48081E-06 | None | None | None | None | N | None | 0 | 1.66973E-05 | None | 0 | 0 | None | 0 | 0 | 2.54409E-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 | 0.9053 | likely_pathogenic | 0.8653 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | N | 0.457992247 | None | None | N |
| D/C | 0.9866 | likely_pathogenic | 0.984 | pathogenic | -0.022 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| D/E | 0.8579 | likely_pathogenic | 0.7767 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.483 | neutral | N | 0.481312768 | None | None | N |
| D/F | 0.9922 | likely_pathogenic | 0.9874 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| D/G | 0.9074 | likely_pathogenic | 0.8977 | pathogenic | -0.723 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.473271365 | None | None | N |
| D/H | 0.9699 | likely_pathogenic | 0.9657 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.480919706 | None | None | N |
| D/I | 0.9932 | likely_pathogenic | 0.9864 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| D/K | 0.9878 | likely_pathogenic | 0.9843 | pathogenic | 0.001 | Stabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | N |
| D/L | 0.9692 | likely_pathogenic | 0.9518 | pathogenic | 0.211 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/M | 0.9931 | likely_pathogenic | 0.9886 | pathogenic | 0.557 | Stabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| D/N | 0.6566 | likely_pathogenic | 0.6605 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.468757136 | None | None | N |
| D/P | 0.9962 | likely_pathogenic | 0.9953 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| D/Q | 0.9793 | likely_pathogenic | 0.9698 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| D/R | 0.9873 | likely_pathogenic | 0.9828 | pathogenic | 0.109 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/S | 0.7803 | likely_pathogenic | 0.7451 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| D/T | 0.9513 | likely_pathogenic | 0.9346 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| D/V | 0.974 | likely_pathogenic | 0.9525 | pathogenic | 0.012 | Stabilizing | 1.0 | D | 0.803 | deleterious | N | 0.47953206 | None | None | N |
| D/W | 0.9988 | likely_pathogenic | 0.9985 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| D/Y | 0.9577 | likely_pathogenic | 0.9462 | pathogenic | -0.137 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.480728709 | 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.