Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15457 | 46594;46595;46596 | chr2:178620048;178620047;178620046 | chr2:179484775;179484774;179484773 |
| N2AB | 13816 | 41671;41672;41673 | chr2:178620048;178620047;178620046 | chr2:179484775;179484774;179484773 |
| N2A | 12889 | 38890;38891;38892 | chr2:178620048;178620047;178620046 | chr2:179484775;179484774;179484773 |
| N2B | 6392 | 19399;19400;19401 | chr2:178620048;178620047;178620046 | chr2:179484775;179484774;179484773 |
| Novex-1 | 6517 | 19774;19775;19776 | chr2:178620048;178620047;178620046 | chr2:179484775;179484774;179484773 |
| Novex-2 | 6584 | 19975;19976;19977 | chr2:178620048;178620047;178620046 | chr2:179484775;179484774;179484773 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs764100235  |
-0.725 | 0.999 | N | 0.472 | 0.331 | 0.238096912614 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| E/D | rs764100235 |
-0.725 | 0.999 | N | 0.472 | 0.331 | 0.238096912614 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/D | rs764100235 |
-0.725 | 0.999 | N | 0.472 | 0.331 | 0.238096912614 | gnomAD-4.0.0 | 1.86118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.5449E-06 | 0 | 0 |
| E/K | rs753664074 |
-0.357 | 0.999 | N | 0.573 | 0.436 | 0.487208542674 | gnomAD-2.1.1 | 4.45E-05 | None | None | None | None | N | None | 0 | 2.6207E-04 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| E/K | rs753664074 |
-0.357 | 0.999 | N | 0.573 | 0.436 | 0.487208542674 | 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 |
| E/K | rs753664074 |
-0.357 | 0.999 | N | 0.573 | 0.436 | 0.487208542674 | gnomAD-4.0.0 | 1.24077E-05 | None | None | None | None | N | None | 0 | 1.83897E-04 | None | 0 | 0 | None | 0 | 0 | 5.9381E-06 | 0 | 3.20698E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.4614 | ambiguous | 0.3696 | ambiguous | -0.879 | Destabilizing | 0.999 | D | 0.652 | neutral | N | 0.499471108 | None | None | N |
| E/C | 0.9885 | likely_pathogenic | 0.9842 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/D | 0.7652 | likely_pathogenic | 0.7912 | pathogenic | -0.904 | Destabilizing | 0.999 | D | 0.472 | neutral | N | 0.512268376 | None | None | N |
| E/F | 0.9917 | likely_pathogenic | 0.9907 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| E/G | 0.6514 | likely_pathogenic | 0.6004 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.513568433 | None | None | N |
| E/H | 0.9675 | likely_pathogenic | 0.96 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| E/I | 0.9303 | likely_pathogenic | 0.9261 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| E/K | 0.7839 | likely_pathogenic | 0.695 | pathogenic | -0.442 | Destabilizing | 0.999 | D | 0.573 | neutral | N | 0.513865876 | None | None | N |
| E/L | 0.9598 | likely_pathogenic | 0.9557 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| E/M | 0.9353 | likely_pathogenic | 0.9223 | pathogenic | 0.362 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| E/N | 0.8707 | likely_pathogenic | 0.8701 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| E/P | 0.9892 | likely_pathogenic | 0.9914 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| E/Q | 0.4775 | ambiguous | 0.4337 | ambiguous | -0.867 | Destabilizing | 1.0 | D | 0.637 | neutral | N | 0.516828378 | None | None | N |
| E/R | 0.854 | likely_pathogenic | 0.7969 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| E/S | 0.6371 | likely_pathogenic | 0.5893 | pathogenic | -1.255 | Destabilizing | 0.999 | D | 0.619 | neutral | None | None | None | None | N |
| E/T | 0.7719 | likely_pathogenic | 0.7088 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| E/V | 0.828 | likely_pathogenic | 0.7984 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.515155125 | None | None | N |
| E/W | 0.9986 | likely_pathogenic | 0.9985 | pathogenic | 0.104 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| E/Y | 0.9866 | likely_pathogenic | 0.9849 | pathogenic | 0.047 | Stabilizing | 1.0 | D | 0.765 | 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.