Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7677 | 23254;23255;23256 | chr2:178720990;178720989;178720988 | chr2:179585717;179585716;179585715 |
| N2AB | 7360 | 22303;22304;22305 | chr2:178720990;178720989;178720988 | chr2:179585717;179585716;179585715 |
| N2A | 6433 | 19522;19523;19524 | chr2:178720990;178720989;178720988 | chr2:179585717;179585716;179585715 |
| 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/R | rs367826445  |
-0.347 | 1.0 | D | 0.818 | 0.569 | 0.882929217163 | gnomAD-2.1.1 | 2.32392E-04 | None | None | None | None | N | None | 1.65426E-04 | 0 | None | 0 | 2.76838E-03 | None | 1.63452E-04 | None | 0 | 1.57E-05 | 0 |
| G/R | rs367826445 |
-0.347 | 1.0 | D | 0.818 | 0.569 | 0.882929217163 | gnomAD-3.1.2 | 1.84039E-04 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 3.6623E-03 | None | 0 | 0 | 5.88E-05 | 6.22407E-04 | 4.78011E-04 |
| G/R | rs367826445 |
-0.347 | 1.0 | D | 0.818 | 0.569 | 0.882929217163 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 2E-03 | 0 | None | None | None | 0 | None |
| G/R | rs367826445 |
-0.347 | 1.0 | D | 0.818 | 0.569 | 0.882929217163 | gnomAD-4.0.0 | 9.92616E-05 | None | None | None | None | N | None | 5.33305E-05 | 3.33511E-05 | None | 0 | 1.67269E-03 | None | 0 | 0 | 1.86722E-05 | 3.62765E-04 | 3.8464E-04 |
| G/W | rs367826445 |
-1.086 | 1.0 | D | 0.771 | 0.569 | 0.840630096914 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| G/W | rs367826445 |
-1.086 | 1.0 | D | 0.771 | 0.569 | 0.840630096914 | gnomAD-4.0.0 | 6.85099E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00734E-07 | 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 | 0.423 | ambiguous | 0.4629 | ambiguous | -0.878 | Destabilizing | 0.936 | D | 0.647 | neutral | D | 0.556128559 | None | None | N |
| G/C | 0.8708 | likely_pathogenic | 0.8959 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| G/D | 0.9017 | likely_pathogenic | 0.9215 | pathogenic | -1.519 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/E | 0.9496 | likely_pathogenic | 0.9588 | pathogenic | -1.565 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.645086905 | None | None | N |
| G/F | 0.9866 | likely_pathogenic | 0.9886 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/H | 0.9815 | likely_pathogenic | 0.9867 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| G/I | 0.9854 | likely_pathogenic | 0.9878 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/K | 0.9816 | likely_pathogenic | 0.9875 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/L | 0.9748 | likely_pathogenic | 0.9785 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/M | 0.9787 | likely_pathogenic | 0.982 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/N | 0.9453 | likely_pathogenic | 0.9507 | pathogenic | -1.025 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/P | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Q | 0.9486 | likely_pathogenic | 0.9601 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/R | 0.938 | likely_pathogenic | 0.9535 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.661136626 | None | None | N |
| G/S | 0.4017 | ambiguous | 0.4323 | ambiguous | -1.321 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| G/T | 0.8936 | likely_pathogenic | 0.9036 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/V | 0.9552 | likely_pathogenic | 0.9624 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.81 | deleterious | D | 0.661338431 | None | None | N |
| G/W | 0.9773 | likely_pathogenic | 0.9825 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.661540235 | None | None | N |
| G/Y | 0.9857 | likely_pathogenic | 0.989 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
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.