Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5261 | 16006;16007;16008 | chr2:178733512;178733511;178733510 | chr2:179598239;179598238;179598237 |
| N2AB | 4944 | 15055;15056;15057 | chr2:178733512;178733511;178733510 | chr2:179598239;179598238;179598237 |
| N2A | 4017 | 12274;12275;12276 | chr2:178733512;178733511;178733510 | chr2:179598239;179598238;179598237 |
| 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/S | None | None | 1.0 | D | 0.606 | 0.262 | 0.234412748748 | gnomAD-4.0.0 | 6.86129E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01677E-07 | 0 | 0 |
| A/T | rs1460264002  |
-1.387 | 1.0 | D | 0.714 | 0.299 | 0.267299060538 | gnomAD-2.1.1 | 7.2E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.58E-05 | 0 |
| A/T | rs1460264002 |
-1.387 | 1.0 | D | 0.714 | 0.299 | 0.267299060538 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| A/T | rs1460264002 |
-1.387 | 1.0 | D | 0.714 | 0.299 | 0.267299060538 | gnomAD-4.0.0 | 3.72759E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.09739E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.892 | likely_pathogenic | 0.8936 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/D | 0.9937 | likely_pathogenic | 0.9941 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.574956386 | None | None | N |
| A/E | 0.9851 | likely_pathogenic | 0.9845 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| A/F | 0.9855 | likely_pathogenic | 0.9876 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| A/G | 0.4414 | ambiguous | 0.4607 | ambiguous | -1.13 | Destabilizing | 1.0 | D | 0.605 | neutral | D | 0.574956386 | None | None | N |
| A/H | 0.9959 | likely_pathogenic | 0.9956 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/I | 0.922 | likely_pathogenic | 0.9388 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| A/K | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| A/L | 0.8667 | likely_pathogenic | 0.8865 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/M | 0.941 | likely_pathogenic | 0.951 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| A/N | 0.987 | likely_pathogenic | 0.9866 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| A/P | 0.4473 | ambiguous | 0.4643 | ambiguous | -0.616 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.418259758 | None | None | N |
| A/Q | 0.9829 | likely_pathogenic | 0.9816 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/R | 0.9916 | likely_pathogenic | 0.9908 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| A/S | 0.3661 | ambiguous | 0.367 | ambiguous | -1.25 | Destabilizing | 1.0 | D | 0.606 | neutral | D | 0.537008025 | None | None | N |
| A/T | 0.7075 | likely_pathogenic | 0.7336 | pathogenic | -1.192 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.580425632 | None | None | N |
| A/V | 0.6929 | likely_pathogenic | 0.74 | pathogenic | -0.616 | Destabilizing | 1.0 | D | 0.653 | neutral | D | 0.583672434 | None | None | N |
| A/W | 0.9985 | likely_pathogenic | 0.9984 | pathogenic | -1.402 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/Y | 0.9946 | likely_pathogenic | 0.9947 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | 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.