Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28148 | 84667;84668;84669 | chr2:178561690;178561689;178561688 | chr2:179426417;179426416;179426415 |
| N2AB | 26507 | 79744;79745;79746 | chr2:178561690;178561689;178561688 | chr2:179426417;179426416;179426415 |
| N2A | 25580 | 76963;76964;76965 | chr2:178561690;178561689;178561688 | chr2:179426417;179426416;179426415 |
| N2B | 19083 | 57472;57473;57474 | chr2:178561690;178561689;178561688 | chr2:179426417;179426416;179426415 |
| Novex-1 | 19208 | 57847;57848;57849 | chr2:178561690;178561689;178561688 | chr2:179426417;179426416;179426415 |
| Novex-2 | 19275 | 58048;58049;58050 | chr2:178561690;178561689;178561688 | chr2:179426417;179426416;179426415 |
| 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/G | rs751860205  |
-1.178 | 0.792 | N | 0.565 | 0.261 | 0.328222422547 | gnomAD-2.1.1 | 8.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.81E-05 | 0 |
| A/G | rs751860205 |
-1.178 | 0.792 | N | 0.565 | 0.261 | 0.328222422547 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/G | rs751860205 |
-1.178 | 0.792 | N | 0.565 | 0.261 | 0.328222422547 | gnomAD-4.0.0 | 4.35482E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.95313E-06 | 0 | 0 |
| A/T | rs1703714627 |
None | 0.027 | N | 0.404 | 0.143 | 0.289847578895 | gnomAD-4.0.0 | 1.60799E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.89154E-06 | 0 | 0 |
| A/V | rs751860205 |
-0.044 | 0.027 | N | 0.41 | 0.127 | 0.358744678677 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| A/V | rs751860205 |
-0.044 | 0.027 | N | 0.41 | 0.127 | 0.358744678677 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/V | rs751860205 |
-0.044 | 0.027 | N | 0.41 | 0.127 | 0.358744678677 | gnomAD-4.0.0 | 6.57117E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47016E-05 | 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 | 0.6347 | likely_pathogenic | 0.6496 | pathogenic | -2.132 | Highly Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/D | 0.9918 | likely_pathogenic | 0.9938 | pathogenic | -2.982 | Highly Destabilizing | 0.947 | D | 0.779 | deleterious | None | None | None | None | N |
| A/E | 0.975 | likely_pathogenic | 0.9817 | pathogenic | -2.825 | Highly Destabilizing | 0.931 | D | 0.678 | prob.neutral | N | 0.517323757 | None | None | N |
| A/F | 0.931 | likely_pathogenic | 0.9427 | pathogenic | -0.966 | Destabilizing | 0.947 | D | 0.766 | deleterious | None | None | None | None | N |
| A/G | 0.5474 | ambiguous | 0.5908 | pathogenic | -1.662 | Destabilizing | 0.792 | D | 0.565 | neutral | N | 0.490572222 | None | None | N |
| A/H | 0.9894 | likely_pathogenic | 0.9923 | pathogenic | -1.729 | Destabilizing | 0.998 | D | 0.727 | deleterious | None | None | None | None | N |
| A/I | 0.4193 | ambiguous | 0.4873 | ambiguous | -0.297 | Destabilizing | 0.717 | D | 0.616 | neutral | None | None | None | None | N |
| A/K | 0.9875 | likely_pathogenic | 0.9911 | pathogenic | -1.421 | Destabilizing | 0.947 | D | 0.68 | prob.neutral | None | None | None | None | N |
| A/L | 0.4594 | ambiguous | 0.4899 | ambiguous | -0.297 | Destabilizing | 0.717 | D | 0.546 | neutral | None | None | None | None | N |
| A/M | 0.6325 | likely_pathogenic | 0.6868 | pathogenic | -0.896 | Destabilizing | 0.993 | D | 0.707 | prob.delet. | None | None | None | None | N |
| A/N | 0.9573 | likely_pathogenic | 0.9678 | pathogenic | -1.84 | Destabilizing | 0.947 | D | 0.785 | deleterious | None | None | None | None | N |
| A/P | 0.7908 | likely_pathogenic | 0.7943 | pathogenic | -0.589 | Destabilizing | 0.964 | D | 0.723 | deleterious | N | 0.487609708 | None | None | N |
| A/Q | 0.9617 | likely_pathogenic | 0.9707 | pathogenic | -1.768 | Destabilizing | 0.973 | D | 0.701 | prob.delet. | None | None | None | None | N |
| A/R | 0.9655 | likely_pathogenic | 0.9748 | pathogenic | -1.355 | Destabilizing | 0.947 | D | 0.702 | prob.delet. | None | None | None | None | N |
| A/S | 0.3285 | likely_benign | 0.3698 | ambiguous | -2.177 | Highly Destabilizing | 0.657 | D | 0.543 | neutral | N | 0.493432604 | None | None | N |
| A/T | 0.2866 | likely_benign | 0.3514 | ambiguous | -1.91 | Destabilizing | 0.027 | N | 0.404 | neutral | N | 0.510512679 | None | None | N |
| A/V | 0.1673 | likely_benign | 0.2093 | benign | -0.589 | Destabilizing | 0.027 | N | 0.41 | neutral | N | 0.497946027 | None | None | N |
| A/W | 0.9938 | likely_pathogenic | 0.9948 | pathogenic | -1.535 | Destabilizing | 0.998 | D | 0.699 | prob.delet. | None | None | None | None | N |
| A/Y | 0.9801 | likely_pathogenic | 0.9842 | pathogenic | -1.085 | Destabilizing | 0.973 | D | 0.765 | 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.