Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4875 | 14848;14849;14850 | chr2:178735823;178735822;178735821 | chr2:179600550;179600549;179600548 |
| N2AB | 4558 | 13897;13898;13899 | chr2:178735823;178735822;178735821 | chr2:179600550;179600549;179600548 |
| N2A | 3631 | 11116;11117;11118 | chr2:178735823;178735822;178735821 | chr2:179600550;179600549;179600548 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs369989679  |
-0.866 | 0.78 | D | 0.417 | 0.279 | 0.393006254552 | gnomAD-2.1.1 | 2.82E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 3.91674E-04 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs369989679 |
-0.866 | 0.78 | D | 0.417 | 0.279 | 0.393006254552 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 9.62649E-04 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs369989679 |
-0.866 | 0.78 | D | 0.417 | 0.279 | 0.393006254552 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| A/G | rs369989679 |
-0.866 | 0.78 | D | 0.417 | 0.279 | 0.393006254552 | gnomAD-4.0.0 | 1.11543E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.90101E-04 | None | 0 | 0 | 0 | 0 | 8.00487E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6109 | likely_pathogenic | 0.5873 | pathogenic | -0.757 | Destabilizing | 0.999 | D | 0.509 | neutral | None | None | None | None | I |
| A/D | 0.4371 | ambiguous | 0.3865 | ambiguous | -0.765 | Destabilizing | 0.919 | D | 0.617 | neutral | None | None | None | None | I |
| A/E | 0.3338 | likely_benign | 0.2938 | benign | -0.923 | Destabilizing | 0.896 | D | 0.55 | neutral | N | 0.415054049 | None | None | I |
| A/F | 0.4069 | ambiguous | 0.4054 | ambiguous | -1.103 | Destabilizing | 0.988 | D | 0.702 | prob.neutral | None | None | None | None | I |
| A/G | 0.1902 | likely_benign | 0.1793 | benign | -0.552 | Destabilizing | 0.78 | D | 0.417 | neutral | D | 0.533184321 | None | None | I |
| A/H | 0.6107 | likely_pathogenic | 0.578 | pathogenic | -0.598 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | I |
| A/I | 0.3435 | ambiguous | 0.333 | benign | -0.497 | Destabilizing | 0.976 | D | 0.537 | neutral | None | None | None | None | I |
| A/K | 0.5922 | likely_pathogenic | 0.5209 | ambiguous | -0.797 | Destabilizing | 0.919 | D | 0.543 | neutral | None | None | None | None | I |
| A/L | 0.27 | likely_benign | 0.2657 | benign | -0.497 | Destabilizing | 0.851 | D | 0.515 | neutral | None | None | None | None | I |
| A/M | 0.2605 | likely_benign | 0.262 | benign | -0.395 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | I |
| A/N | 0.3236 | likely_benign | 0.2997 | benign | -0.41 | Destabilizing | 0.976 | D | 0.629 | neutral | None | None | None | None | I |
| A/P | 0.7836 | likely_pathogenic | 0.7357 | pathogenic | -0.459 | Destabilizing | 0.984 | D | 0.548 | neutral | N | 0.511506893 | None | None | I |
| A/Q | 0.4251 | ambiguous | 0.3927 | ambiguous | -0.744 | Destabilizing | 0.988 | D | 0.584 | neutral | None | None | None | None | I |
| A/R | 0.5072 | ambiguous | 0.4498 | ambiguous | -0.263 | Destabilizing | 0.988 | D | 0.579 | neutral | None | None | None | None | I |
| A/S | 0.0997 | likely_benign | 0.098 | benign | -0.599 | Destabilizing | 0.123 | N | 0.157 | neutral | N | 0.447052083 | None | None | I |
| A/T | 0.0941 | likely_benign | 0.0935 | benign | -0.685 | Destabilizing | 0.046 | N | 0.161 | neutral | N | 0.4672925 | None | None | I |
| A/V | 0.1634 | likely_benign | 0.1641 | benign | -0.459 | Destabilizing | 0.811 | D | 0.447 | neutral | N | 0.506884106 | None | None | I |
| A/W | 0.8218 | likely_pathogenic | 0.8026 | pathogenic | -1.226 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | I |
| A/Y | 0.5799 | likely_pathogenic | 0.5474 | ambiguous | -0.889 | Destabilizing | 0.996 | D | 0.704 | prob.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.