Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17075 | 51448;51449;51450 | chr2:178610303;178610302;178610301 | chr2:179475030;179475029;179475028 |
| N2AB | 15434 | 46525;46526;46527 | chr2:178610303;178610302;178610301 | chr2:179475030;179475029;179475028 |
| N2A | 14507 | 43744;43745;43746 | chr2:178610303;178610302;178610301 | chr2:179475030;179475029;179475028 |
| N2B | 8010 | 24253;24254;24255 | chr2:178610303;178610302;178610301 | chr2:179475030;179475029;179475028 |
| Novex-1 | 8135 | 24628;24629;24630 | chr2:178610303;178610302;178610301 | chr2:179475030;179475029;179475028 |
| Novex-2 | 8202 | 24829;24830;24831 | chr2:178610303;178610302;178610301 | chr2:179475030;179475029;179475028 |
| 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 | rs2056008838  |
None | 1.0 | D | 0.833 | 0.524 | 0.404592120364 | 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 | rs2056008838 |
None | 1.0 | D | 0.833 | 0.524 | 0.404592120364 | gnomAD-4.0.0 | 6.57929E-06 | None | None | None | None | I | None | 0 | 6.56168E-05 | None | 0 | 0 | None | 0 | 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 | 0.9069 | likely_pathogenic | 0.9003 | pathogenic | -0.544 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | D | 0.649202302 | None | None | I |
| G/C | 0.9754 | likely_pathogenic | 0.9716 | pathogenic | -0.856 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.746999293 | None | None | I |
| G/D | 0.9929 | likely_pathogenic | 0.9908 | pathogenic | -0.623 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.637188188 | None | None | I |
| G/E | 0.9961 | likely_pathogenic | 0.9954 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/F | 0.998 | likely_pathogenic | 0.9977 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/H | 0.9975 | likely_pathogenic | 0.997 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/I | 0.9971 | likely_pathogenic | 0.9964 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/K | 0.9981 | likely_pathogenic | 0.9975 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/L | 0.9956 | likely_pathogenic | 0.9947 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/M | 0.9977 | likely_pathogenic | 0.9974 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9924 | likely_pathogenic | 0.9913 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/Q | 0.9962 | likely_pathogenic | 0.9952 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| G/R | 0.9915 | likely_pathogenic | 0.9885 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.619861944 | None | None | I |
| G/S | 0.8945 | likely_pathogenic | 0.8907 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.574281439 | None | None | I |
| G/T | 0.9895 | likely_pathogenic | 0.9878 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9938 | likely_pathogenic | 0.9928 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.672990608 | None | None | I |
| G/W | 0.9955 | likely_pathogenic | 0.9941 | pathogenic | -1.263 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| G/Y | 0.9969 | likely_pathogenic | 0.9965 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.803 | 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.