Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17215 | 51868;51869;51870 | chr2:178609780;178609779;178609778 | chr2:179474507;179474506;179474505 |
| N2AB | 15574 | 46945;46946;46947 | chr2:178609780;178609779;178609778 | chr2:179474507;179474506;179474505 |
| N2A | 14647 | 44164;44165;44166 | chr2:178609780;178609779;178609778 | chr2:179474507;179474506;179474505 |
| N2B | 8150 | 24673;24674;24675 | chr2:178609780;178609779;178609778 | chr2:179474507;179474506;179474505 |
| Novex-1 | 8275 | 25048;25049;25050 | chr2:178609780;178609779;178609778 | chr2:179474507;179474506;179474505 |
| Novex-2 | 8342 | 25249;25250;25251 | chr2:178609780;178609779;178609778 | chr2:179474507;179474506;179474505 |
| 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 | None | None | 1.0 | N | 0.876 | 0.451 | 0.76164565314 | gnomAD-4.0.0 | 6.84524E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.16009E-05 | 0 |
| G/W | rs777054402  |
-1.338 | 1.0 | N | 0.857 | 0.482 | 0.702393124896 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/W | rs777054402 |
-1.338 | 1.0 | N | 0.857 | 0.482 | 0.702393124896 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/W | rs777054402 |
-1.338 | 1.0 | N | 0.857 | 0.482 | 0.702393124896 | gnomAD-4.0.0 | 7.44078E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.01763E-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 | 0.6072 | likely_pathogenic | 0.5739 | pathogenic | -0.582 | Destabilizing | 0.998 | D | 0.658 | neutral | N | 0.485267347 | None | None | N |
| G/C | 0.7269 | likely_pathogenic | 0.6783 | pathogenic | -0.907 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| G/D | 0.3676 | ambiguous | 0.305 | benign | -1.045 | Destabilizing | 0.999 | D | 0.744 | deleterious | None | None | None | None | N |
| G/E | 0.5341 | ambiguous | 0.48 | ambiguous | -1.181 | Destabilizing | 0.977 | D | 0.652 | neutral | N | 0.479506903 | None | None | N |
| G/F | 0.9308 | likely_pathogenic | 0.9121 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/H | 0.7892 | likely_pathogenic | 0.7477 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/I | 0.9391 | likely_pathogenic | 0.9226 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| G/K | 0.8259 | likely_pathogenic | 0.7974 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/L | 0.892 | likely_pathogenic | 0.8699 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| G/M | 0.8913 | likely_pathogenic | 0.8688 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/N | 0.3732 | ambiguous | 0.3243 | benign | -0.822 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/P | 0.9948 | likely_pathogenic | 0.9948 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/Q | 0.7056 | likely_pathogenic | 0.6616 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| G/R | 0.7768 | likely_pathogenic | 0.737 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.876 | deleterious | N | 0.513842535 | None | None | N |
| G/S | 0.3072 | likely_benign | 0.2812 | benign | -0.977 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/T | 0.6779 | likely_pathogenic | 0.6414 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/V | 0.8763 | likely_pathogenic | 0.8512 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.523819715 | None | None | N |
| G/W | 0.8684 | likely_pathogenic | 0.8326 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.494866134 | None | None | N |
| G/Y | 0.8481 | likely_pathogenic | 0.8015 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.863 | 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.