Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31475 | 94648;94649;94650 | chr2:178547102;178547101;178547100 | chr2:179411829;179411828;179411827 |
| N2AB | 29834 | 89725;89726;89727 | chr2:178547102;178547101;178547100 | chr2:179411829;179411828;179411827 |
| N2A | 28907 | 86944;86945;86946 | chr2:178547102;178547101;178547100 | chr2:179411829;179411828;179411827 |
| N2B | 22410 | 67453;67454;67455 | chr2:178547102;178547101;178547100 | chr2:179411829;179411828;179411827 |
| Novex-1 | 22535 | 67828;67829;67830 | chr2:178547102;178547101;178547100 | chr2:179411829;179411828;179411827 |
| Novex-2 | 22602 | 68029;68030;68031 | chr2:178547102;178547101;178547100 | chr2:179411829;179411828;179411827 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/Q | rs1171182062  |
0.206 | 1.0 | N | 0.661 | 0.381 | 0.294918367191 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| E/Q | rs1171182062 |
0.206 | 1.0 | N | 0.661 | 0.381 | 0.294918367191 | 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 |
| E/Q | rs1171182062 |
0.206 | 1.0 | N | 0.661 | 0.381 | 0.294918367191 | gnomAD-4.0.0 | 6.57177E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46972E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5836 | likely_pathogenic | 0.6207 | pathogenic | -0.53 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.482102752 | None | None | N |
| E/C | 0.989 | likely_pathogenic | 0.9888 | pathogenic | None | Stabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| E/D | 0.5866 | likely_pathogenic | 0.5927 | pathogenic | -0.594 | Destabilizing | 0.999 | D | 0.595 | neutral | N | 0.492399555 | None | None | N |
| E/F | 0.9958 | likely_pathogenic | 0.9966 | pathogenic | -0.545 | Destabilizing | 1.0 | D | 0.609 | neutral | None | None | None | None | N |
| E/G | 0.7961 | likely_pathogenic | 0.8096 | pathogenic | -0.75 | Destabilizing | 1.0 | D | 0.569 | neutral | N | 0.507794785 | None | None | N |
| E/H | 0.9686 | likely_pathogenic | 0.9712 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.61 | neutral | None | None | None | None | N |
| E/I | 0.9464 | likely_pathogenic | 0.9602 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.61 | neutral | None | None | None | None | N |
| E/K | 0.769 | likely_pathogenic | 0.8148 | pathogenic | 0.116 | Stabilizing | 0.999 | D | 0.686 | prob.neutral | N | 0.485789736 | None | None | N |
| E/L | 0.9595 | likely_pathogenic | 0.968 | pathogenic | 0.024 | Stabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| E/M | 0.9537 | likely_pathogenic | 0.9631 | pathogenic | 0.318 | Stabilizing | 1.0 | D | 0.582 | neutral | None | None | None | None | N |
| E/N | 0.8684 | likely_pathogenic | 0.8886 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | N |
| E/P | 0.8289 | likely_pathogenic | 0.8424 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| E/Q | 0.5326 | ambiguous | 0.5742 | pathogenic | -0.113 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.488676572 | None | None | N |
| E/R | 0.8649 | likely_pathogenic | 0.8837 | pathogenic | 0.242 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | N |
| E/S | 0.7434 | likely_pathogenic | 0.7694 | pathogenic | -0.313 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| E/T | 0.8554 | likely_pathogenic | 0.8822 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.603 | neutral | None | None | None | None | N |
| E/V | 0.8464 | likely_pathogenic | 0.8792 | pathogenic | -0.14 | Destabilizing | 1.0 | D | 0.569 | neutral | N | 0.486968279 | None | None | N |
| E/W | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.652 | neutral | None | None | None | None | N |
| E/Y | 0.9909 | likely_pathogenic | 0.992 | pathogenic | -0.31 | Destabilizing | 1.0 | D | 0.571 | 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.