Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27892 | 83899;83900;83901 | chr2:178562458;178562457;178562456 | chr2:179427185;179427184;179427183 |
| N2AB | 26251 | 78976;78977;78978 | chr2:178562458;178562457;178562456 | chr2:179427185;179427184;179427183 |
| N2A | 25324 | 76195;76196;76197 | chr2:178562458;178562457;178562456 | chr2:179427185;179427184;179427183 |
| N2B | 18827 | 56704;56705;56706 | chr2:178562458;178562457;178562456 | chr2:179427185;179427184;179427183 |
| Novex-1 | 18952 | 57079;57080;57081 | chr2:178562458;178562457;178562456 | chr2:179427185;179427184;179427183 |
| Novex-2 | 19019 | 57280;57281;57282 | chr2:178562458;178562457;178562456 | chr2:179427185;179427184;179427183 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 1.0 | D | 0.791 | 0.568 | 0.753396637751 | gnomAD-4.0.0 | 6.84401E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16052E-05 | 0 |
| G/S | rs765177625  |
-0.128 | 1.0 | N | 0.715 | 0.463 | 0.407767136052 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/S | rs765177625 |
-0.128 | 1.0 | N | 0.715 | 0.463 | 0.407767136052 | gnomAD-4.0.0 | 1.3688E-05 | None | None | None | None | I | None | 2.98936E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.34937E-05 | 2.32105E-05 | 3.31433E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8154 | likely_pathogenic | 0.8618 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.626 | neutral | N | 0.496716239 | None | None | I |
| G/C | 0.8997 | likely_pathogenic | 0.9306 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.549422843 | None | None | I |
| G/D | 0.9694 | likely_pathogenic | 0.9803 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.525696274 | None | None | I |
| G/E | 0.9768 | likely_pathogenic | 0.9862 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/F | 0.9765 | likely_pathogenic | 0.9839 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/H | 0.9748 | likely_pathogenic | 0.9837 | pathogenic | -0.279 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| G/I | 0.9716 | likely_pathogenic | 0.9819 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/K | 0.9751 | likely_pathogenic | 0.9847 | pathogenic | -0.357 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/L | 0.971 | likely_pathogenic | 0.9804 | pathogenic | -0.404 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/M | 0.982 | likely_pathogenic | 0.9885 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/N | 0.9442 | likely_pathogenic | 0.9587 | pathogenic | -0.134 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| G/P | 0.996 | likely_pathogenic | 0.997 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/Q | 0.9653 | likely_pathogenic | 0.9776 | pathogenic | -0.368 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/R | 0.9406 | likely_pathogenic | 0.9597 | pathogenic | -0.046 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.522417818 | None | None | I |
| G/S | 0.703 | likely_pathogenic | 0.7624 | pathogenic | -0.281 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.508401713 | None | None | I |
| G/T | 0.9412 | likely_pathogenic | 0.9585 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/V | 0.9598 | likely_pathogenic | 0.9732 | pathogenic | -0.292 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.549422843 | None | None | I |
| G/W | 0.972 | likely_pathogenic | 0.9818 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Y | 0.967 | likely_pathogenic | 0.9797 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
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.