Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20682 | 62269;62270;62271 | chr2:178589681;178589680;178589679 | chr2:179454408;179454407;179454406 |
| N2AB | 19041 | 57346;57347;57348 | chr2:178589681;178589680;178589679 | chr2:179454408;179454407;179454406 |
| N2A | 18114 | 54565;54566;54567 | chr2:178589681;178589680;178589679 | chr2:179454408;179454407;179454406 |
| N2B | 11617 | 35074;35075;35076 | chr2:178589681;178589680;178589679 | chr2:179454408;179454407;179454406 |
| Novex-1 | 11742 | 35449;35450;35451 | chr2:178589681;178589680;178589679 | chr2:179454408;179454407;179454406 |
| Novex-2 | 11809 | 35650;35651;35652 | chr2:178589681;178589680;178589679 | chr2:179454408;179454407;179454406 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/E | rs2049804283  |
None | 0.999 | N | 0.593 | 0.384 | 0.332133492242 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| K/E | rs2049804283 |
None | 0.999 | N | 0.593 | 0.384 | 0.332133492242 | gnomAD-4.0.0 | 2.02977E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.04493E-03 | 0 | 0 | 0 |
| K/M | None | None | 1.0 | N | 0.616 | 0.528 | 0.514358602855 | gnomAD-4.0.0 | 4.79022E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29714E-06 | 0 | 0 |
| K/N | rs756250387 |
-0.163 | 1.0 | N | 0.74 | 0.344 | 0.202086224978 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| K/N | rs756250387 |
-0.163 | 1.0 | N | 0.74 | 0.344 | 0.202086224978 | 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 |
| K/N | rs756250387 |
-0.163 | 1.0 | N | 0.74 | 0.344 | 0.202086224978 | gnomAD-4.0.0 | 1.85944E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.872 | likely_pathogenic | 0.8601 | pathogenic | -0.261 | Destabilizing | 0.999 | D | 0.635 | neutral | None | None | None | None | N |
| K/C | 0.9701 | likely_pathogenic | 0.9687 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| K/D | 0.9317 | likely_pathogenic | 0.9212 | pathogenic | 0.114 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| K/E | 0.7433 | likely_pathogenic | 0.7276 | pathogenic | 0.154 | Stabilizing | 0.999 | D | 0.593 | neutral | N | 0.499834326 | None | None | N |
| K/F | 0.9894 | likely_pathogenic | 0.9885 | pathogenic | -0.263 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| K/G | 0.9017 | likely_pathogenic | 0.8983 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| K/H | 0.7907 | likely_pathogenic | 0.7949 | pathogenic | -0.809 | Destabilizing | 1.0 | D | 0.62 | neutral | None | None | None | None | N |
| K/I | 0.9199 | likely_pathogenic | 0.9072 | pathogenic | 0.385 | Stabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| K/L | 0.8626 | likely_pathogenic | 0.8462 | pathogenic | 0.385 | Stabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| K/M | 0.8168 | likely_pathogenic | 0.7954 | pathogenic | 0.26 | Stabilizing | 1.0 | D | 0.616 | neutral | N | 0.505704417 | None | None | N |
| K/N | 0.8579 | likely_pathogenic | 0.8421 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.521057747 | None | None | N |
| K/P | 0.8754 | likely_pathogenic | 0.859 | pathogenic | 0.2 | Stabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| K/Q | 0.503 | ambiguous | 0.525 | ambiguous | -0.256 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | N | 0.478192413 | None | None | N |
| K/R | 0.1319 | likely_benign | 0.1401 | benign | -0.246 | Destabilizing | 0.999 | D | 0.537 | neutral | N | 0.505589649 | None | None | N |
| K/S | 0.8755 | likely_pathogenic | 0.8651 | pathogenic | -0.688 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| K/T | 0.7673 | likely_pathogenic | 0.7431 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.473201982 | None | None | N |
| K/V | 0.8834 | likely_pathogenic | 0.8725 | pathogenic | 0.2 | Stabilizing | 1.0 | D | 0.698 | prob.neutral | None | None | None | None | N |
| K/W | 0.9856 | likely_pathogenic | 0.9862 | pathogenic | -0.154 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| K/Y | 0.97 | likely_pathogenic | 0.9678 | pathogenic | 0.16 | Stabilizing | 1.0 | D | 0.677 | prob.neutral | 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.