Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27758 | 83497;83498;83499 | chr2:178562860;178562859;178562858 | chr2:179427587;179427586;179427585 |
| N2AB | 26117 | 78574;78575;78576 | chr2:178562860;178562859;178562858 | chr2:179427587;179427586;179427585 |
| N2A | 25190 | 75793;75794;75795 | chr2:178562860;178562859;178562858 | chr2:179427587;179427586;179427585 |
| N2B | 18693 | 56302;56303;56304 | chr2:178562860;178562859;178562858 | chr2:179427587;179427586;179427585 |
| Novex-1 | 18818 | 56677;56678;56679 | chr2:178562860;178562859;178562858 | chr2:179427587;179427586;179427585 |
| Novex-2 | 18885 | 56878;56879;56880 | chr2:178562860;178562859;178562858 | chr2:179427587;179427586;179427585 |
| 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/C | None | None | 1.0 | N | 0.879 | 0.577 | 0.855030217213 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| F/L | rs188323108  |
-1.013 | 0.999 | N | 0.586 | 0.438 | 0.552698843619 | gnomAD-2.1.1 | 3.4155E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.89532E-03 | None | 0 | None | 0 | 0 | 1.41563E-04 |
| F/L | rs188323108 |
-1.013 | 0.999 | N | 0.586 | 0.438 | 0.552698843619 | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 1.93199E-03 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs188323108 |
-1.013 | 0.999 | N | 0.586 | 0.438 | 0.552698843619 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| F/L | rs188323108 |
-1.013 | 0.999 | N | 0.586 | 0.438 | 0.552698843619 | gnomAD-4.0.0 | 6.07534E-05 | None | None | None | None | N | None | 0 | 3.33823E-05 | None | 0 | 1.94674E-03 | None | 0 | 0 | 0 | 0 | 1.44161E-04 |
| F/S | None | None | 1.0 | N | 0.874 | 0.498 | 0.754480948551 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.743 | likely_pathogenic | 0.7395 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| F/C | 0.7065 | likely_pathogenic | 0.6673 | pathogenic | -0.467 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.510544988 | None | None | N |
| F/D | 0.965 | likely_pathogenic | 0.967 | pathogenic | 0.112 | Stabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| F/E | 0.9719 | likely_pathogenic | 0.9738 | pathogenic | 0.108 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| F/G | 0.9323 | likely_pathogenic | 0.9304 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| F/H | 0.8065 | likely_pathogenic | 0.8025 | pathogenic | -0.201 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| F/I | 0.5485 | ambiguous | 0.5282 | ambiguous | -0.875 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.513028202 | None | None | N |
| F/K | 0.9707 | likely_pathogenic | 0.9729 | pathogenic | -0.459 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| F/L | 0.9679 | likely_pathogenic | 0.9633 | pathogenic | -0.875 | Destabilizing | 0.999 | D | 0.586 | neutral | N | 0.520474249 | None | None | N |
| F/M | 0.7233 | likely_pathogenic | 0.7162 | pathogenic | -0.584 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| F/N | 0.8297 | likely_pathogenic | 0.8229 | pathogenic | -0.34 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/P | 0.9942 | likely_pathogenic | 0.9954 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| F/Q | 0.9269 | likely_pathogenic | 0.9277 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| F/R | 0.9347 | likely_pathogenic | 0.9395 | pathogenic | 0.189 | Stabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/S | 0.6082 | likely_pathogenic | 0.593 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.43679686 | None | None | N |
| F/T | 0.5943 | likely_pathogenic | 0.5876 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| F/V | 0.4714 | ambiguous | 0.4476 | ambiguous | -1.081 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.522994479 | None | None | N |
| F/W | 0.719 | likely_pathogenic | 0.74 | pathogenic | -0.481 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | N |
| F/Y | 0.3366 | likely_benign | 0.3219 | benign | -0.532 | Destabilizing | 0.999 | D | 0.535 | neutral | D | 0.534558267 | 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.