Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31201 | 93826;93827;93828 | chr2:178548025;178548024;178548023 | chr2:179412752;179412751;179412750 |
| N2AB | 29560 | 88903;88904;88905 | chr2:178548025;178548024;178548023 | chr2:179412752;179412751;179412750 |
| N2A | 28633 | 86122;86123;86124 | chr2:178548025;178548024;178548023 | chr2:179412752;179412751;179412750 |
| N2B | 22136 | 66631;66632;66633 | chr2:178548025;178548024;178548023 | chr2:179412752;179412751;179412750 |
| Novex-1 | 22261 | 67006;67007;67008 | chr2:178548025;178548024;178548023 | chr2:179412752;179412751;179412750 |
| Novex-2 | 22328 | 67207;67208;67209 | chr2:178548025;178548024;178548023 | chr2:179412752;179412751;179412750 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs765759269  |
None | 0.06 | N | 0.302 | 0.205 | 0.368554958709 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/L | rs765759269 |
None | 0.06 | N | 0.302 | 0.205 | 0.368554958709 | gnomAD-4.0.0 | 1.23938E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69521E-06 | 0 | 0 |
| F/V | None | None | 0.91 | N | 0.607 | 0.302 | 0.485634191555 | gnomAD-4.0.0 | 1.59118E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43275E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.5298 | ambiguous | 0.4674 | ambiguous | -0.694 | Destabilizing | 0.982 | D | 0.719 | prob.delet. | None | None | None | None | N |
| F/C | 0.4716 | ambiguous | 0.4026 | ambiguous | -0.518 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.487558462 | None | None | N |
| F/D | 0.8191 | likely_pathogenic | 0.7599 | pathogenic | 0.535 | Stabilizing | 0.998 | D | 0.891 | deleterious | None | None | None | None | N |
| F/E | 0.8611 | likely_pathogenic | 0.8122 | pathogenic | 0.497 | Stabilizing | 0.998 | D | 0.896 | deleterious | None | None | None | None | N |
| F/G | 0.7423 | likely_pathogenic | 0.677 | pathogenic | -0.77 | Destabilizing | 0.998 | D | 0.869 | deleterious | None | None | None | None | N |
| F/H | 0.7273 | likely_pathogenic | 0.6869 | pathogenic | -0.005 | Destabilizing | 1.0 | D | 0.698 | prob.delet. | None | None | None | None | N |
| F/I | 0.2898 | likely_benign | 0.2323 | benign | -0.541 | Destabilizing | 0.91 | D | 0.561 | neutral | N | 0.440052517 | None | None | N |
| F/K | 0.8828 | likely_pathogenic | 0.8433 | pathogenic | -0.209 | Destabilizing | 0.998 | D | 0.886 | deleterious | None | None | None | None | N |
| F/L | 0.7911 | likely_pathogenic | 0.7599 | pathogenic | -0.541 | Destabilizing | 0.06 | N | 0.302 | neutral | N | 0.401456843 | None | None | N |
| F/M | 0.5662 | likely_pathogenic | 0.5096 | ambiguous | -0.608 | Destabilizing | 0.99 | D | 0.689 | prob.delet. | None | None | None | None | N |
| F/N | 0.6569 | likely_pathogenic | 0.5937 | pathogenic | -0.222 | Destabilizing | 0.998 | D | 0.892 | deleterious | None | None | None | None | N |
| F/P | 0.8613 | likely_pathogenic | 0.8332 | pathogenic | -0.578 | Destabilizing | 0.998 | D | 0.859 | deleterious | None | None | None | None | N |
| F/Q | 0.8038 | likely_pathogenic | 0.7691 | pathogenic | -0.191 | Destabilizing | 0.998 | D | 0.853 | deleterious | None | None | None | None | N |
| F/R | 0.8076 | likely_pathogenic | 0.7564 | pathogenic | -0.022 | Destabilizing | 0.998 | D | 0.893 | deleterious | None | None | None | None | N |
| F/S | 0.4277 | ambiguous | 0.3671 | ambiguous | -0.704 | Destabilizing | 0.998 | D | 0.79 | deleterious | N | 0.35204953 | None | None | N |
| F/T | 0.5652 | likely_pathogenic | 0.4954 | ambiguous | -0.674 | Destabilizing | 0.995 | D | 0.753 | deleterious | None | None | None | None | N |
| F/V | 0.2689 | likely_benign | 0.2211 | benign | -0.578 | Destabilizing | 0.91 | D | 0.607 | neutral | N | 0.371613939 | None | None | N |
| F/W | 0.5937 | likely_pathogenic | 0.5543 | ambiguous | -0.704 | Destabilizing | 1.0 | D | 0.689 | prob.delet. | None | None | None | None | N |
| F/Y | 0.2377 | likely_benign | 0.22 | benign | -0.628 | Destabilizing | 0.992 | D | 0.529 | neutral | N | 0.479053622 | 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.