Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15597 | 47014;47015;47016 | chr2:178618761;178618760;178618759 | chr2:179483488;179483487;179483486 |
| N2AB | 13956 | 42091;42092;42093 | chr2:178618761;178618760;178618759 | chr2:179483488;179483487;179483486 |
| N2A | 13029 | 39310;39311;39312 | chr2:178618761;178618760;178618759 | chr2:179483488;179483487;179483486 |
| N2B | 6532 | 19819;19820;19821 | chr2:178618761;178618760;178618759 | chr2:179483488;179483487;179483486 |
| Novex-1 | 6657 | 20194;20195;20196 | chr2:178618761;178618760;178618759 | chr2:179483488;179483487;179483486 |
| Novex-2 | 6724 | 20395;20396;20397 | chr2:178618761;178618760;178618759 | chr2:179483488;179483487;179483486 |
| 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/E | None | None | 1.0 | N | 0.797 | 0.465 | 0.528811570836 | gnomAD-4.0.0 | 4.11043E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40107E-06 | 0 | 0 |
| A/V | None | None | 1.0 | N | 0.655 | 0.458 | 0.466655310336 | gnomAD-4.0.0 | 6.8507E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00178E-07 | 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 | 0.6784 | likely_pathogenic | 0.7231 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| A/D | 0.9624 | likely_pathogenic | 0.9675 | pathogenic | -2.263 | Highly Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| A/E | 0.9437 | likely_pathogenic | 0.9484 | pathogenic | -2.177 | Highly Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.508674183 | None | None | N |
| A/F | 0.9379 | likely_pathogenic | 0.9447 | pathogenic | -0.947 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/G | 0.2857 | likely_benign | 0.307 | benign | -1.54 | Destabilizing | 1.0 | D | 0.599 | neutral | N | 0.509793035 | None | None | N |
| A/H | 0.9837 | likely_pathogenic | 0.9852 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| A/I | 0.6236 | likely_pathogenic | 0.68 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/K | 0.9872 | likely_pathogenic | 0.9885 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| A/L | 0.6486 | likely_pathogenic | 0.6884 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| A/M | 0.7552 | likely_pathogenic | 0.7995 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| A/N | 0.9252 | likely_pathogenic | 0.9286 | pathogenic | -1.391 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/P | 0.3341 | likely_benign | 0.419 | ambiguous | -0.502 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.473352631 | None | None | N |
| A/Q | 0.9539 | likely_pathogenic | 0.9545 | pathogenic | -1.404 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/R | 0.9764 | likely_pathogenic | 0.9767 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/S | 0.2679 | likely_benign | 0.2921 | benign | -1.75 | Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.508190801 | None | None | N |
| A/T | 0.3349 | likely_benign | 0.3988 | ambiguous | -1.563 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.508190801 | None | None | N |
| A/V | 0.2691 | likely_benign | 0.3347 | benign | -0.502 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.506222558 | None | None | N |
| A/W | 0.9919 | likely_pathogenic | 0.993 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | N |
| A/Y | 0.9732 | likely_pathogenic | 0.9743 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.827 | deleterious | 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.