Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35781 | 107566;107567;107568 | chr2:178528310;178528309;178528308 | chr2:179393037;179393036;179393035 |
| N2AB | 34140 | 102643;102644;102645 | chr2:178528310;178528309;178528308 | chr2:179393037;179393036;179393035 |
| N2A | 33213 | 99862;99863;99864 | chr2:178528310;178528309;178528308 | chr2:179393037;179393036;179393035 |
| N2B | 26716 | 80371;80372;80373 | chr2:178528310;178528309;178528308 | chr2:179393037;179393036;179393035 |
| Novex-1 | 26841 | 80746;80747;80748 | chr2:178528310;178528309;178528308 | chr2:179393037;179393036;179393035 |
| Novex-2 | 26908 | 80947;80948;80949 | chr2:178528310;178528309;178528308 | chr2:179393037;179393036;179393035 |
| 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/S | None | None | 1.0 | D | 0.794 | 0.833 | 0.478222008075 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 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 | 0.761 | likely_pathogenic | 0.7882 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.591085417 | None | None | I |
| G/C | 0.9269 | likely_pathogenic | 0.9435 | pathogenic | -0.877 | Destabilizing | 1.0 | D | 0.8 | deleterious | D | 0.631764233 | None | None | I |
| G/D | 0.9048 | likely_pathogenic | 0.9252 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.584877692 | None | None | I |
| G/E | 0.9089 | likely_pathogenic | 0.9303 | pathogenic | -1.295 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/F | 0.9832 | likely_pathogenic | 0.9872 | pathogenic | -1.138 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/H | 0.9703 | likely_pathogenic | 0.9766 | pathogenic | -0.82 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/I | 0.974 | likely_pathogenic | 0.9782 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/K | 0.967 | likely_pathogenic | 0.9729 | pathogenic | -1.221 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/L | 0.9728 | likely_pathogenic | 0.9782 | pathogenic | -0.541 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/M | 0.9827 | likely_pathogenic | 0.9859 | pathogenic | -0.494 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/N | 0.9282 | likely_pathogenic | 0.9416 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9982 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Q | 0.9364 | likely_pathogenic | 0.9503 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/R | 0.9287 | likely_pathogenic | 0.942 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.595930514 | None | None | I |
| G/S | 0.5809 | likely_pathogenic | 0.6246 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.794 | deleterious | D | 0.58026476 | None | None | I |
| G/T | 0.9119 | likely_pathogenic | 0.9263 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/V | 0.944 | likely_pathogenic | 0.9537 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.647379986 | None | None | I |
| G/W | 0.9638 | likely_pathogenic | 0.9694 | pathogenic | -1.321 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.9656 | likely_pathogenic | 0.9723 | pathogenic | -0.997 | Destabilizing | 1.0 | D | 0.833 | 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.