Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27498 | 82717;82718;82719 | chr2:178563640;178563639;178563638 | chr2:179428367;179428366;179428365 |
| N2AB | 25857 | 77794;77795;77796 | chr2:178563640;178563639;178563638 | chr2:179428367;179428366;179428365 |
| N2A | 24930 | 75013;75014;75015 | chr2:178563640;178563639;178563638 | chr2:179428367;179428366;179428365 |
| N2B | 18433 | 55522;55523;55524 | chr2:178563640;178563639;178563638 | chr2:179428367;179428366;179428365 |
| Novex-1 | 18558 | 55897;55898;55899 | chr2:178563640;178563639;178563638 | chr2:179428367;179428366;179428365 |
| Novex-2 | 18625 | 56098;56099;56100 | chr2:178563640;178563639;178563638 | chr2:179428367;179428366;179428365 |
| 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/D | rs1417591772  |
None | 0.999 | N | 0.695 | 0.599 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1417591772 |
None | 0.999 | N | 0.695 | 0.599 | None | gnomAD-4.0.0 | 8.67625E-06 | None | None | None | None | I | None | 0 | 1.66739E-05 | None | 0 | 0 | None | 0 | 0 | 1.10192E-05 | 0 | 0 |
| G/S | rs1458136255 |
-0.242 | 0.997 | N | 0.695 | 0.504 | 0.329540904979 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 6.46E-05 | 5.79E-05 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 0 | 0 |
| G/S | rs1458136255 |
-0.242 | 0.997 | N | 0.695 | 0.504 | 0.329540904979 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 1.31199E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs1458136255 |
-0.242 | 0.997 | N | 0.695 | 0.504 | 0.329540904979 | gnomAD-4.0.0 | 6.81696E-06 | None | None | None | None | I | None | 8.01303E-05 | 6.67045E-05 | None | 0 | 0 | None | 1.56216E-05 | 0 | 0 | 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 | 0.6116 | likely_pathogenic | 0.6213 | pathogenic | -0.239 | Destabilizing | 0.991 | D | 0.541 | neutral | N | 0.506646377 | None | None | I |
| G/C | 0.6711 | likely_pathogenic | 0.6232 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.559784281 | None | None | I |
| G/D | 0.684 | likely_pathogenic | 0.6969 | pathogenic | -0.54 | Destabilizing | 0.999 | D | 0.695 | prob.neutral | N | 0.520915972 | None | None | I |
| G/E | 0.7162 | likely_pathogenic | 0.7359 | pathogenic | -0.692 | Destabilizing | 0.998 | D | 0.775 | deleterious | None | None | None | None | I |
| G/F | 0.9332 | likely_pathogenic | 0.9304 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/H | 0.8178 | likely_pathogenic | 0.8267 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/I | 0.8939 | likely_pathogenic | 0.8904 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/K | 0.7873 | likely_pathogenic | 0.7976 | pathogenic | -0.522 | Destabilizing | 0.996 | D | 0.777 | deleterious | None | None | None | None | I |
| G/L | 0.8825 | likely_pathogenic | 0.8894 | pathogenic | -0.512 | Destabilizing | 0.998 | D | 0.793 | deleterious | None | None | None | None | I |
| G/M | 0.9008 | likely_pathogenic | 0.9056 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/N | 0.6551 | likely_pathogenic | 0.6796 | pathogenic | -0.264 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | I |
| G/P | 0.9852 | likely_pathogenic | 0.9875 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/Q | 0.7305 | likely_pathogenic | 0.7478 | pathogenic | -0.522 | Destabilizing | 0.998 | D | 0.809 | deleterious | None | None | None | None | I |
| G/R | 0.6981 | likely_pathogenic | 0.695 | pathogenic | -0.145 | Destabilizing | 0.652 | D | 0.562 | neutral | N | 0.518206947 | None | None | I |
| G/S | 0.3623 | ambiguous | 0.3739 | ambiguous | -0.407 | Destabilizing | 0.997 | D | 0.695 | prob.neutral | N | 0.50620185 | None | None | I |
| G/T | 0.7474 | likely_pathogenic | 0.754 | pathogenic | -0.497 | Destabilizing | 0.998 | D | 0.791 | deleterious | None | None | None | None | I |
| G/V | 0.8401 | likely_pathogenic | 0.8343 | pathogenic | -0.399 | Destabilizing | 0.999 | D | 0.797 | deleterious | D | 0.540666068 | None | None | I |
| G/W | 0.906 | likely_pathogenic | 0.9035 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/Y | 0.8851 | likely_pathogenic | 0.8782 | pathogenic | -0.798 | Destabilizing | 1.0 | D | 0.814 | 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.