Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2278 | 7057;7058;7059 | chr2:178774432;178774431;178774430 | chr2:179639159;179639158;179639157 |
| N2AB | 2278 | 7057;7058;7059 | chr2:178774432;178774431;178774430 | chr2:179639159;179639158;179639157 |
| N2A | 2278 | 7057;7058;7059 | chr2:178774432;178774431;178774430 | chr2:179639159;179639158;179639157 |
| N2B | 2232 | 6919;6920;6921 | chr2:178774432;178774431;178774430 | chr2:179639159;179639158;179639157 |
| Novex-1 | 2232 | 6919;6920;6921 | chr2:178774432;178774431;178774430 | chr2:179639159;179639158;179639157 |
| Novex-2 | 2232 | 6919;6920;6921 | chr2:178774432;178774431;178774430 | chr2:179639159;179639158;179639157 |
| Novex-3 | 2278 | 7057;7058;7059 | chr2:178774432;178774431;178774430 | chr2:179639159;179639158;179639157 |
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/F | rs779274451  |
-1.141 | 1.0 | D | 0.693 | 0.688 | 0.885741665235 | gnomAD-2.1.1 | 7.99E-06 | None | None | None | None | N | None | 6.16E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| V/F | rs779274451 |
-1.141 | 1.0 | D | 0.693 | 0.688 | 0.885741665235 | gnomAD-4.0.0 | 5.47484E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.19511E-06 | 0 | 0 |
| V/I | rs779274451 |
-0.233 | 0.997 | D | 0.469 | 0.409 | 0.643537847441 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/I | rs779274451 |
-0.233 | 0.997 | D | 0.469 | 0.409 | 0.643537847441 | gnomAD-4.0.0 | 6.84355E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15939E-05 | 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 | 0.7078 | likely_pathogenic | 0.6859 | pathogenic | -1.835 | Destabilizing | 0.999 | D | 0.483 | neutral | N | 0.510315526 | None | None | N |
| V/C | 0.9452 | likely_pathogenic | 0.9395 | pathogenic | -1.289 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | N |
| V/D | 0.995 | likely_pathogenic | 0.9931 | pathogenic | -1.957 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.706319046 | None | None | N |
| V/E | 0.9809 | likely_pathogenic | 0.9745 | pathogenic | -1.852 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| V/F | 0.8031 | likely_pathogenic | 0.7442 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.64370957 | None | None | N |
| V/G | 0.8528 | likely_pathogenic | 0.8268 | pathogenic | -2.258 | Highly Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.667955826 | None | None | N |
| V/H | 0.9935 | likely_pathogenic | 0.9912 | pathogenic | -1.853 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| V/I | 0.1339 | likely_benign | 0.124 | benign | -0.717 | Destabilizing | 0.997 | D | 0.469 | neutral | D | 0.553593462 | None | None | N |
| V/K | 0.9835 | likely_pathogenic | 0.978 | pathogenic | -1.534 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| V/L | 0.7346 | likely_pathogenic | 0.6764 | pathogenic | -0.717 | Destabilizing | 0.997 | D | 0.501 | neutral | D | 0.622505554 | None | None | N |
| V/M | 0.6404 | likely_pathogenic | 0.5805 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| V/N | 0.981 | likely_pathogenic | 0.9755 | pathogenic | -1.538 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| V/P | 0.9966 | likely_pathogenic | 0.9956 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| V/Q | 0.9779 | likely_pathogenic | 0.9702 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| V/R | 0.9766 | likely_pathogenic | 0.9691 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| V/S | 0.9021 | likely_pathogenic | 0.8886 | pathogenic | -2.132 | Highly Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| V/T | 0.7563 | likely_pathogenic | 0.7341 | pathogenic | -1.91 | Destabilizing | 0.999 | D | 0.623 | neutral | None | None | None | None | N |
| V/W | 0.9962 | likely_pathogenic | 0.9943 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| V/Y | 0.975 | likely_pathogenic | 0.9658 | pathogenic | -1.188 | Destabilizing | 1.0 | D | 0.696 | prob.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.