Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5902 | 17929;17930;17931 | chr2:178730961;178730960;178730959 | chr2:179595688;179595687;179595686 |
| N2AB | 5585 | 16978;16979;16980 | chr2:178730961;178730960;178730959 | chr2:179595688;179595687;179595686 |
| N2A | 4658 | 14197;14198;14199 | chr2:178730961;178730960;178730959 | chr2:179595688;179595687;179595686 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/E | rs1346456739  |
-0.653 | 1.0 | D | 0.767 | 0.767 | 0.7501268 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1346456739 |
-0.653 | 1.0 | D | 0.767 | 0.767 | 0.7501268 | gnomAD-4.0.0 | 1.30212E-05 | None | None | None | None | I | None | 0 | 2.23964E-05 | None | 0 | 0 | None | 0 | 0 | 1.62131E-05 | 0 | 0 |
| G/R | rs770836683 |
-0.157 | 0.953 | D | 0.569 | 0.668 | 0.81435806 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs770836683 |
-0.157 | 0.953 | D | 0.569 | 0.668 | 0.81435806 | gnomAD-4.0.0 | 1.59727E-06 | None | None | None | None | I | None | 0 | 2.2899E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs1346456739 |
None | 1.0 | D | 0.756 | 0.801 | 0.9186248 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/V | rs1346456739 |
None | 1.0 | D | 0.756 | 0.801 | 0.9186248 | gnomAD-4.0.0 | 6.57834E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47063E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7991 | likely_pathogenic | 0.8393 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.624 | neutral | D | 0.58365613 | None | None | I |
| G/C | 0.9483 | likely_pathogenic | 0.9577 | pathogenic | -0.844 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/D | 0.9328 | likely_pathogenic | 0.9353 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | I |
| G/E | 0.9545 | likely_pathogenic | 0.9602 | pathogenic | -1.242 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.5259285 | None | None | I |
| G/F | 0.9864 | likely_pathogenic | 0.9887 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/H | 0.9861 | likely_pathogenic | 0.9885 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/I | 0.9829 | likely_pathogenic | 0.9861 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/K | 0.9869 | likely_pathogenic | 0.989 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/L | 0.9781 | likely_pathogenic | 0.9824 | pathogenic | -0.611 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/M | 0.9882 | likely_pathogenic | 0.9903 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.772 | deleterious | None | None | None | None | I |
| G/N | 0.9627 | likely_pathogenic | 0.9684 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/P | 0.9984 | likely_pathogenic | 0.9989 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/Q | 0.9672 | likely_pathogenic | 0.9716 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | I |
| G/R | 0.9635 | likely_pathogenic | 0.9685 | pathogenic | -0.415 | Destabilizing | 0.953 | D | 0.569 | neutral | D | 0.5998773 | None | None | I |
| G/S | 0.7204 | likely_pathogenic | 0.7515 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/T | 0.9401 | likely_pathogenic | 0.9516 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| G/V | 0.9677 | likely_pathogenic | 0.9736 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.6165021 | None | None | I |
| G/W | 0.9747 | likely_pathogenic | 0.9788 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.764 | deleterious | D | 0.6169057 | None | None | I |
| G/Y | 0.9788 | likely_pathogenic | 0.9837 | pathogenic | -1.053 | Destabilizing | 1.0 | D | 0.806 | 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.