Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28951 | 87076;87077;87078 | chr2:178558608;178558607;178558606 | chr2:179423335;179423334;179423333 |
| N2AB | 27310 | 82153;82154;82155 | chr2:178558608;178558607;178558606 | chr2:179423335;179423334;179423333 |
| N2A | 26383 | 79372;79373;79374 | chr2:178558608;178558607;178558606 | chr2:179423335;179423334;179423333 |
| N2B | 19886 | 59881;59882;59883 | chr2:178558608;178558607;178558606 | chr2:179423335;179423334;179423333 |
| Novex-1 | 20011 | 60256;60257;60258 | chr2:178558608;178558607;178558606 | chr2:179423335;179423334;179423333 |
| Novex-2 | 20078 | 60457;60458;60459 | chr2:178558608;178558607;178558606 | chr2:179423335;179423334;179423333 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | rs1484448659  |
None | 1.0 | N | 0.861 | 0.621 | 0.814742580506 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/E | rs1484448659 |
None | 1.0 | N | 0.861 | 0.621 | 0.814742580506 | gnomAD-4.0.0 | 6.57246E-06 | None | None | None | None | I | None | 2.41255E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | None | None | 1.0 | N | 0.845 | 0.609 | 0.824251490257 | gnomAD-4.0.0 | 1.59537E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86061E-06 | 0 | 0 |
| V/L | rs878854426 |
None | 0.997 | N | 0.611 | 0.367 | 0.583209036909 | gnomAD-4.0.0 | 6.84899E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99667E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3709 | ambiguous | 0.3644 | ambiguous | -1.179 | Destabilizing | 0.999 | D | 0.625 | neutral | N | 0.503493494 | None | None | I |
| V/C | 0.8099 | likely_pathogenic | 0.7999 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| V/D | 0.8736 | likely_pathogenic | 0.8599 | pathogenic | -0.086 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| V/E | 0.7787 | likely_pathogenic | 0.7722 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.51066253 | None | None | I |
| V/F | 0.2917 | likely_benign | 0.2772 | benign | -0.831 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| V/G | 0.5736 | likely_pathogenic | 0.5598 | ambiguous | -1.494 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.509648572 | None | None | I |
| V/H | 0.8947 | likely_pathogenic | 0.8901 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| V/I | 0.0665 | likely_benign | 0.0658 | benign | -0.417 | Destabilizing | 0.997 | D | 0.593 | neutral | N | 0.475058885 | None | None | I |
| V/K | 0.786 | likely_pathogenic | 0.7786 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| V/L | 0.266 | likely_benign | 0.266 | benign | -0.417 | Destabilizing | 0.997 | D | 0.611 | neutral | N | 0.515097354 | None | None | I |
| V/M | 0.1936 | likely_benign | 0.1898 | benign | -0.626 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| V/N | 0.7236 | likely_pathogenic | 0.7139 | pathogenic | -0.77 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| V/P | 0.7236 | likely_pathogenic | 0.6853 | pathogenic | -0.636 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| V/Q | 0.7615 | likely_pathogenic | 0.7544 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| V/R | 0.7871 | likely_pathogenic | 0.7694 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| V/S | 0.6118 | likely_pathogenic | 0.5963 | pathogenic | -1.465 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| V/T | 0.4627 | ambiguous | 0.4676 | ambiguous | -1.288 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | I |
| V/W | 0.9167 | likely_pathogenic | 0.9126 | pathogenic | -0.92 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| V/Y | 0.764 | likely_pathogenic | 0.7494 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
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.