Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27463 | 82612;82613;82614 | chr2:178563745;178563744;178563743 | chr2:179428472;179428471;179428470 |
| N2AB | 25822 | 77689;77690;77691 | chr2:178563745;178563744;178563743 | chr2:179428472;179428471;179428470 |
| N2A | 24895 | 74908;74909;74910 | chr2:178563745;178563744;178563743 | chr2:179428472;179428471;179428470 |
| N2B | 18398 | 55417;55418;55419 | chr2:178563745;178563744;178563743 | chr2:179428472;179428471;179428470 |
| Novex-1 | 18523 | 55792;55793;55794 | chr2:178563745;178563744;178563743 | chr2:179428472;179428471;179428470 |
| Novex-2 | 18590 | 55993;55994;55995 | chr2:178563745;178563744;178563743 | chr2:179428472;179428471;179428470 |
| 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/D | None | None | 1.0 | D | 0.813 | 0.431 | 0.784690975838 | gnomAD-4.0.0 | 1.59137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85838E-06 | 0 | 0 |
| A/P | rs1350757570  |
-0.939 | 1.0 | N | 0.772 | 0.427 | 0.655153318392 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs1350757570 |
-0.939 | 1.0 | N | 0.772 | 0.427 | 0.655153318392 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.5811 | likely_pathogenic | 0.5912 | pathogenic | -1.997 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| A/D | 0.993 | likely_pathogenic | 0.9902 | pathogenic | -3.283 | Highly Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.543853435 | None | None | N |
| A/E | 0.9848 | likely_pathogenic | 0.9813 | pathogenic | -3.134 | Highly Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/F | 0.8269 | likely_pathogenic | 0.8076 | pathogenic | -0.777 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| A/G | 0.5675 | likely_pathogenic | 0.5341 | ambiguous | -1.525 | Destabilizing | 0.999 | D | 0.557 | neutral | D | 0.522773439 | None | None | N |
| A/H | 0.9873 | likely_pathogenic | 0.9832 | pathogenic | -1.639 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| A/I | 0.4437 | ambiguous | 0.4512 | ambiguous | -0.222 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/K | 0.9943 | likely_pathogenic | 0.9929 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| A/L | 0.4969 | ambiguous | 0.4656 | ambiguous | -0.222 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/M | 0.4662 | ambiguous | 0.4776 | ambiguous | -0.763 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/N | 0.9631 | likely_pathogenic | 0.9528 | pathogenic | -1.916 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| A/P | 0.7759 | likely_pathogenic | 0.8315 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.772 | deleterious | N | 0.514139385 | None | None | N |
| A/Q | 0.9591 | likely_pathogenic | 0.9517 | pathogenic | -1.829 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| A/R | 0.9791 | likely_pathogenic | 0.9727 | pathogenic | -1.36 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| A/S | 0.3034 | likely_benign | 0.2905 | benign | -2.143 | Highly Destabilizing | 0.999 | D | 0.597 | neutral | D | 0.526683779 | None | None | N |
| A/T | 0.484 | ambiguous | 0.4586 | ambiguous | -1.897 | Destabilizing | 1.0 | D | 0.723 | deleterious | D | 0.530725741 | None | None | N |
| A/V | 0.2571 | likely_benign | 0.2617 | benign | -0.5 | Destabilizing | 0.999 | D | 0.636 | neutral | D | 0.52997638 | None | None | N |
| A/W | 0.9922 | likely_pathogenic | 0.9906 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| A/Y | 0.9655 | likely_pathogenic | 0.9565 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.829 | 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.