Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1158 | 3697;3698;3699 | chr2:178781172;178781171;178781170 | chr2:179645899;179645898;179645897 |
| N2AB | 1158 | 3697;3698;3699 | chr2:178781172;178781171;178781170 | chr2:179645899;179645898;179645897 |
| N2A | 1158 | 3697;3698;3699 | chr2:178781172;178781171;178781170 | chr2:179645899;179645898;179645897 |
| N2B | 1112 | 3559;3560;3561 | chr2:178781172;178781171;178781170 | chr2:179645899;179645898;179645897 |
| Novex-1 | 1112 | 3559;3560;3561 | chr2:178781172;178781171;178781170 | chr2:179645899;179645898;179645897 |
| Novex-2 | 1112 | 3559;3560;3561 | chr2:178781172;178781171;178781170 | chr2:179645899;179645898;179645897 |
| Novex-3 | 1158 | 3697;3698;3699 | chr2:178781172;178781171;178781170 | chr2:179645899;179645898;179645897 |
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/L | rs1210691633  |
-0.982 | 0.004 | N | 0.498 | 0.221 | 0.29527378943 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/L | rs1210691633 |
-0.982 | 0.004 | N | 0.498 | 0.221 | 0.29527378943 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs1210691633 |
-0.982 | 0.004 | N | 0.498 | 0.221 | 0.29527378943 | gnomAD-4.0.0 | 8.96523E-06 | None | None | None | None | N | None | 5.0734E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.13688E-04 |
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 | 0.5403 | ambiguous | 0.5244 | ambiguous | -2.658 | Highly Destabilizing | None | N | 0.292 | neutral | N | 0.291549597 | None | None | N |
| V/C | 0.8916 | likely_pathogenic | 0.8591 | pathogenic | -1.945 | Destabilizing | 0.824 | D | 0.815 | deleterious | None | None | None | None | N |
| V/D | 0.9961 | likely_pathogenic | 0.9962 | pathogenic | -3.335 | Highly Destabilizing | 0.484 | N | 0.857 | deleterious | D | 0.56370475 | None | None | N |
| V/E | 0.987 | likely_pathogenic | 0.9868 | pathogenic | -3.073 | Highly Destabilizing | 0.38 | N | 0.818 | deleterious | None | None | None | None | N |
| V/F | 0.696 | likely_pathogenic | 0.6557 | pathogenic | -1.441 | Destabilizing | 0.317 | N | 0.833 | deleterious | D | 0.528063482 | None | None | N |
| V/G | 0.8727 | likely_pathogenic | 0.8547 | pathogenic | -3.163 | Highly Destabilizing | 0.062 | N | 0.803 | deleterious | N | 0.490825974 | None | None | N |
| V/H | 0.995 | likely_pathogenic | 0.9944 | pathogenic | -2.803 | Highly Destabilizing | 0.935 | D | 0.85 | deleterious | None | None | None | None | N |
| V/I | 0.0589 | likely_benign | 0.0599 | benign | -1.188 | Destabilizing | None | N | 0.223 | neutral | N | 0.494381082 | None | None | N |
| V/K | 0.9929 | likely_pathogenic | 0.9921 | pathogenic | -2.069 | Highly Destabilizing | 0.38 | N | 0.818 | deleterious | None | None | None | None | N |
| V/L | 0.3438 | ambiguous | 0.2995 | benign | -1.188 | Destabilizing | 0.004 | N | 0.498 | neutral | N | 0.505056411 | None | None | N |
| V/M | 0.4321 | ambiguous | 0.3899 | ambiguous | -1.398 | Destabilizing | 0.38 | N | 0.701 | prob.neutral | None | None | None | None | N |
| V/N | 0.9775 | likely_pathogenic | 0.9772 | pathogenic | -2.549 | Highly Destabilizing | 0.555 | D | 0.873 | deleterious | None | None | None | None | N |
| V/P | 0.9925 | likely_pathogenic | 0.9923 | pathogenic | -1.662 | Destabilizing | 0.555 | D | 0.849 | deleterious | None | None | None | None | N |
| V/Q | 0.9831 | likely_pathogenic | 0.9821 | pathogenic | -2.294 | Highly Destabilizing | 0.555 | D | 0.849 | deleterious | None | None | None | None | N |
| V/R | 0.9838 | likely_pathogenic | 0.9818 | pathogenic | -1.937 | Destabilizing | 0.555 | D | 0.873 | deleterious | None | None | None | None | N |
| V/S | 0.8434 | likely_pathogenic | 0.8326 | pathogenic | -3.046 | Highly Destabilizing | 0.081 | N | 0.785 | deleterious | None | None | None | None | N |
| V/T | 0.7619 | likely_pathogenic | 0.7502 | pathogenic | -2.664 | Highly Destabilizing | 0.149 | N | 0.685 | prob.neutral | None | None | None | None | N |
| V/W | 0.9942 | likely_pathogenic | 0.9923 | pathogenic | -1.944 | Destabilizing | 0.935 | D | 0.837 | deleterious | None | None | None | None | N |
| V/Y | 0.9785 | likely_pathogenic | 0.9755 | pathogenic | -1.734 | Destabilizing | 0.555 | D | 0.836 | 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.