Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6261 | 19006;19007;19008 | chr2:178729375;178729374;178729373 | chr2:179594102;179594101;179594100 |
| N2AB | 5944 | 18055;18056;18057 | chr2:178729375;178729374;178729373 | chr2:179594102;179594101;179594100 |
| N2A | 5017 | 15274;15275;15276 | chr2:178729375;178729374;178729373 | chr2:179594102;179594101;179594100 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs1438614038  |
None | 1.0 | N | 0.783 | 0.657 | 0.853965696696 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs1438614038 |
None | 1.0 | N | 0.783 | 0.657 | 0.853965696696 | gnomAD-4.0.0 | 3.84435E-06 | None | None | None | None | N | None | 3.38421E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84511E-05 |
| C/Y | rs1060500581 |
-1.305 | 1.0 | N | 0.772 | 0.44 | 0.799932464155 | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/Y | rs1060500581 |
-1.305 | 1.0 | N | 0.772 | 0.44 | 0.799932464155 | gnomAD-4.0.0 | 4.77515E-06 | None | None | None | None | N | None | 0 | 4.57457E-05 | None | 0 | 0 | None | 0 | 0 | 2.85925E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.3848 | ambiguous | 0.2974 | benign | -1.194 | Destabilizing | 0.998 | D | 0.52 | neutral | None | None | None | None | N |
| C/D | 0.9577 | likely_pathogenic | 0.9345 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| C/E | 0.9751 | likely_pathogenic | 0.9616 | pathogenic | -1.583 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| C/F | 0.4211 | ambiguous | 0.3639 | ambiguous | -1.089 | Destabilizing | 1.0 | D | 0.765 | deleterious | N | 0.478358268 | None | None | N |
| C/G | 0.2711 | likely_benign | 0.204 | benign | -1.463 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.527458936 | None | None | N |
| C/H | 0.9191 | likely_pathogenic | 0.88 | pathogenic | -2.016 | Highly Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| C/I | 0.4939 | ambiguous | 0.4423 | ambiguous | -0.506 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| C/K | 0.9849 | likely_pathogenic | 0.9762 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| C/L | 0.4908 | ambiguous | 0.4599 | ambiguous | -0.506 | Destabilizing | 0.999 | D | 0.592 | neutral | None | None | None | None | N |
| C/M | 0.6747 | likely_pathogenic | 0.6395 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| C/N | 0.833 | likely_pathogenic | 0.7651 | pathogenic | -1.376 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| C/P | 0.7722 | likely_pathogenic | 0.7089 | pathogenic | -0.712 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| C/Q | 0.9449 | likely_pathogenic | 0.9191 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| C/R | 0.9237 | likely_pathogenic | 0.8908 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.512849166 | None | None | N |
| C/S | 0.4161 | ambiguous | 0.3032 | benign | -1.524 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | N | 0.515087072 | None | None | N |
| C/T | 0.4423 | ambiguous | 0.3718 | ambiguous | -1.191 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/V | 0.3538 | ambiguous | 0.3165 | benign | -0.712 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| C/W | 0.8185 | likely_pathogenic | 0.7569 | pathogenic | -1.585 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.513102655 | None | None | N |
| C/Y | 0.6594 | likely_pathogenic | 0.5649 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.512849166 | 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.