Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15823 | 47692;47693;47694 | chr2:178617884;178617883;178617882 | chr2:179482611;179482610;179482609 |
| N2AB | 14182 | 42769;42770;42771 | chr2:178617884;178617883;178617882 | chr2:179482611;179482610;179482609 |
| N2A | 13255 | 39988;39989;39990 | chr2:178617884;178617883;178617882 | chr2:179482611;179482610;179482609 |
| N2B | 6758 | 20497;20498;20499 | chr2:178617884;178617883;178617882 | chr2:179482611;179482610;179482609 |
| Novex-1 | 6883 | 20872;20873;20874 | chr2:178617884;178617883;178617882 | chr2:179482611;179482610;179482609 |
| Novex-2 | 6950 | 21073;21074;21075 | chr2:178617884;178617883;178617882 | chr2:179482611;179482610;179482609 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1245351032  |
None | 0.999 | D | 0.868 | 0.417 | 0.633743785003 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/A | rs1245351032 |
None | 0.999 | D | 0.868 | 0.417 | 0.633743785003 | gnomAD-4.0.0 | 2.03046E-06 | None | None | None | None | N | None | 3.4976E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs370772361 |
-0.164 | 1.0 | N | 0.864 | 0.308 | None | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| V/M | rs370772361 |
-0.164 | 1.0 | N | 0.864 | 0.308 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/M | rs370772361 |
-0.164 | 1.0 | N | 0.864 | 0.308 | None | gnomAD-4.0.0 | 1.73633E-05 | None | None | None | None | N | None | 1.33665E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.28985E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4754 | ambiguous | 0.5277 | ambiguous | -1.956 | Destabilizing | 0.999 | D | 0.868 | deleterious | D | 0.530566389 | None | None | N |
| V/C | 0.8945 | likely_pathogenic | 0.8974 | pathogenic | -1.601 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| V/D | 0.9737 | likely_pathogenic | 0.9843 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| V/E | 0.9515 | likely_pathogenic | 0.9708 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.596118566 | None | None | N |
| V/F | 0.6426 | likely_pathogenic | 0.6778 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| V/G | 0.7343 | likely_pathogenic | 0.79 | pathogenic | -2.451 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | D | 0.596118566 | None | None | N |
| V/H | 0.982 | likely_pathogenic | 0.9887 | pathogenic | -1.969 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| V/I | 0.1052 | likely_benign | 0.1034 | benign | -0.612 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | N |
| V/K | 0.948 | likely_pathogenic | 0.9676 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| V/L | 0.4359 | ambiguous | 0.442 | ambiguous | -0.612 | Destabilizing | 0.997 | D | 0.861 | deleterious | N | 0.302141138 | None | None | N |
| V/M | 0.3942 | ambiguous | 0.437 | ambiguous | -0.655 | Destabilizing | 1.0 | D | 0.864 | deleterious | N | 0.476036122 | None | None | N |
| V/N | 0.9337 | likely_pathogenic | 0.9554 | pathogenic | -1.781 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| V/P | 0.9627 | likely_pathogenic | 0.9684 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| V/Q | 0.9515 | likely_pathogenic | 0.9689 | pathogenic | -1.707 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| V/R | 0.9207 | likely_pathogenic | 0.9489 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| V/S | 0.8195 | likely_pathogenic | 0.863 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| V/T | 0.517 | ambiguous | 0.5816 | pathogenic | -2.159 | Highly Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| V/W | 0.9901 | likely_pathogenic | 0.9928 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| V/Y | 0.956 | likely_pathogenic | 0.966 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.827 | 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.