Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20085 | 60478;60479;60480 | chr2:178591472;178591471;178591470 | chr2:179456199;179456198;179456197 |
| N2AB | 18444 | 55555;55556;55557 | chr2:178591472;178591471;178591470 | chr2:179456199;179456198;179456197 |
| N2A | 17517 | 52774;52775;52776 | chr2:178591472;178591471;178591470 | chr2:179456199;179456198;179456197 |
| N2B | 11020 | 33283;33284;33285 | chr2:178591472;178591471;178591470 | chr2:179456199;179456198;179456197 |
| Novex-1 | 11145 | 33658;33659;33660 | chr2:178591472;178591471;178591470 | chr2:179456199;179456198;179456197 |
| Novex-2 | 11212 | 33859;33860;33861 | chr2:178591472;178591471;178591470 | chr2:179456199;179456198;179456197 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/N | None | None | 0.879 | N | 0.664 | 0.312 | 0.636059428734 | gnomAD-4.0.0 | 6.96954E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.06687E-07 | 0 | 0 |
| I/T | rs763870161  |
-0.551 | 0.013 | N | 0.313 | 0.144 | 0.434934176536 | gnomAD-2.1.1 | 4.47E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.46E-06 | 0 |
| I/T | rs763870161 |
-0.551 | 0.013 | N | 0.313 | 0.144 | 0.434934176536 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| I/T | rs763870161 |
-0.551 | 0.013 | N | 0.313 | 0.144 | 0.434934176536 | gnomAD-4.0.0 | 2.3316E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.07454E-05 | 0 | 1.62957E-05 |
| I/V | rs794729466 |
-0.282 | 0.001 | N | 0.201 | 0.083 | 0.392702134506 | gnomAD-2.1.1 | 4.46E-06 | None | None | None | None | I | None | 0 | 3.59E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/V | rs794729466 |
-0.282 | 0.001 | N | 0.201 | 0.083 | 0.392702134506 | gnomAD-4.0.0 | 1.6618E-06 | None | None | None | None | I | None | 0 | 2.69107E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4646 | ambiguous | 0.3979 | ambiguous | -1.571 | Destabilizing | 0.218 | N | 0.585 | neutral | None | None | None | None | I |
| I/C | 0.9435 | likely_pathogenic | 0.9217 | pathogenic | -1.098 | Destabilizing | 0.973 | D | 0.624 | neutral | None | None | None | None | I |
| I/D | 0.9483 | likely_pathogenic | 0.9208 | pathogenic | -0.887 | Destabilizing | 0.906 | D | 0.658 | neutral | None | None | None | None | I |
| I/E | 0.8271 | likely_pathogenic | 0.7498 | pathogenic | -0.878 | Destabilizing | 0.906 | D | 0.653 | neutral | None | None | None | None | I |
| I/F | 0.4075 | ambiguous | 0.3515 | ambiguous | -1.053 | Destabilizing | 0.782 | D | 0.582 | neutral | N | 0.505231785 | None | None | I |
| I/G | 0.8666 | likely_pathogenic | 0.8234 | pathogenic | -1.902 | Destabilizing | 0.906 | D | 0.615 | neutral | None | None | None | None | I |
| I/H | 0.8562 | likely_pathogenic | 0.77 | pathogenic | -1.087 | Destabilizing | 0.991 | D | 0.686 | prob.neutral | None | None | None | None | I |
| I/K | 0.6965 | likely_pathogenic | 0.5452 | ambiguous | -1.137 | Destabilizing | 0.906 | D | 0.654 | neutral | None | None | None | None | I |
| I/L | 0.167 | likely_benign | 0.1374 | benign | -0.74 | Destabilizing | 0.084 | N | 0.359 | neutral | N | 0.400349617 | None | None | I |
| I/M | 0.1446 | likely_benign | 0.1264 | benign | -0.631 | Destabilizing | 0.782 | D | 0.587 | neutral | N | 0.47577567 | None | None | I |
| I/N | 0.7716 | likely_pathogenic | 0.6571 | pathogenic | -0.989 | Destabilizing | 0.879 | D | 0.664 | neutral | N | 0.50575186 | None | None | I |
| I/P | 0.8896 | likely_pathogenic | 0.8661 | pathogenic | -0.985 | Destabilizing | 0.967 | D | 0.665 | neutral | None | None | None | None | I |
| I/Q | 0.6795 | likely_pathogenic | 0.5537 | ambiguous | -1.133 | Destabilizing | 0.967 | D | 0.675 | prob.neutral | None | None | None | None | I |
| I/R | 0.5506 | ambiguous | 0.4054 | ambiguous | -0.564 | Destabilizing | 0.906 | D | 0.667 | neutral | None | None | None | None | I |
| I/S | 0.5932 | likely_pathogenic | 0.4904 | ambiguous | -1.631 | Destabilizing | 0.338 | N | 0.535 | neutral | N | 0.479007976 | None | None | I |
| I/T | 0.256 | likely_benign | 0.2074 | benign | -1.497 | Destabilizing | 0.013 | N | 0.313 | neutral | N | 0.482509641 | None | None | I |
| I/V | 0.1869 | likely_benign | 0.1663 | benign | -0.985 | Destabilizing | 0.001 | N | 0.201 | neutral | N | 0.497073661 | None | None | I |
| I/W | 0.8468 | likely_pathogenic | 0.8267 | pathogenic | -1.116 | Destabilizing | 0.991 | D | 0.713 | prob.delet. | None | None | None | None | I |
| I/Y | 0.8267 | likely_pathogenic | 0.7738 | pathogenic | -0.897 | Destabilizing | 0.906 | D | 0.603 | neutral | 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.