Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9143 | 27652;27653;27654 | chr2:178712495;178712494;178712493 | chr2:179577222;179577221;179577220 |
| N2AB | 8826 | 26701;26702;26703 | chr2:178712495;178712494;178712493 | chr2:179577222;179577221;179577220 |
| N2A | 7899 | 23920;23921;23922 | chr2:178712495;178712494;178712493 | chr2:179577222;179577221;179577220 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/F | rs186857044  |
-1.056 | 0.991 | D | 0.736 | 0.511 | None | gnomAD-2.1.1 | 1.16471E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.55902E-03 | None | 0 | None | 0 | 0 | 1.65618E-04 |
| V/F | rs186857044 |
-1.056 | 0.991 | D | 0.736 | 0.511 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.79151E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/F | rs186857044 |
-1.056 | 0.991 | D | 0.736 | 0.511 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| V/F | rs186857044 |
-1.056 | 0.991 | D | 0.736 | 0.511 | None | gnomAD-4.0.0 | 5.14329E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.82783E-03 | None | 0 | 0 | 0 | 0 | 1.60056E-05 |
| V/L | None | None | 0.863 | D | 0.643 | 0.482 | 0.522344865107 | gnomAD-4.0.0 | 6.84207E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-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 | 0.4246 | ambiguous | 0.4188 | ambiguous | -1.606 | Destabilizing | 0.046 | N | 0.33 | neutral | D | 0.582675692 | None | None | N |
| V/C | 0.8836 | likely_pathogenic | 0.8627 | pathogenic | -1.194 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/D | 0.9396 | likely_pathogenic | 0.939 | pathogenic | -1.613 | Destabilizing | 0.991 | D | 0.837 | deleterious | D | 0.637082584 | None | None | N |
| V/E | 0.863 | likely_pathogenic | 0.8629 | pathogenic | -1.525 | Destabilizing | 0.986 | D | 0.842 | deleterious | None | None | None | None | N |
| V/F | 0.4274 | ambiguous | 0.3701 | ambiguous | -1.061 | Destabilizing | 0.991 | D | 0.736 | prob.delet. | D | 0.552756813 | None | None | N |
| V/G | 0.653 | likely_pathogenic | 0.6529 | pathogenic | -2.027 | Highly Destabilizing | 0.964 | D | 0.832 | deleterious | D | 0.621063223 | None | None | N |
| V/H | 0.9508 | likely_pathogenic | 0.9405 | pathogenic | -1.691 | Destabilizing | 0.999 | D | 0.838 | deleterious | None | None | None | None | N |
| V/I | 0.0871 | likely_benign | 0.0797 | benign | -0.512 | Destabilizing | 0.863 | D | 0.597 | neutral | N | 0.508708178 | None | None | N |
| V/K | 0.8865 | likely_pathogenic | 0.885 | pathogenic | -1.41 | Destabilizing | 0.986 | D | 0.84 | deleterious | None | None | None | None | N |
| V/L | 0.3958 | ambiguous | 0.358 | ambiguous | -0.512 | Destabilizing | 0.863 | D | 0.643 | neutral | D | 0.560862934 | None | None | N |
| V/M | 0.2817 | likely_benign | 0.2496 | benign | -0.466 | Destabilizing | 0.998 | D | 0.706 | prob.neutral | None | None | None | None | N |
| V/N | 0.8521 | likely_pathogenic | 0.834 | pathogenic | -1.363 | Destabilizing | 0.993 | D | 0.841 | deleterious | None | None | None | None | N |
| V/P | 0.9079 | likely_pathogenic | 0.9042 | pathogenic | -0.842 | Destabilizing | 0.993 | D | 0.836 | deleterious | None | None | None | None | N |
| V/Q | 0.8539 | likely_pathogenic | 0.8464 | pathogenic | -1.388 | Destabilizing | 0.993 | D | 0.839 | deleterious | None | None | None | None | N |
| V/R | 0.8584 | likely_pathogenic | 0.8563 | pathogenic | -1.061 | Destabilizing | 0.993 | D | 0.833 | deleterious | None | None | None | None | N |
| V/S | 0.6535 | likely_pathogenic | 0.6326 | pathogenic | -1.945 | Destabilizing | 0.973 | D | 0.827 | deleterious | None | None | None | None | N |
| V/T | 0.4757 | ambiguous | 0.4469 | ambiguous | -1.725 | Destabilizing | 0.953 | D | 0.669 | neutral | None | None | None | None | N |
| V/W | 0.9684 | likely_pathogenic | 0.9589 | pathogenic | -1.393 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| V/Y | 0.8761 | likely_pathogenic | 0.8461 | pathogenic | -1.042 | Destabilizing | 0.998 | D | 0.729 | prob.delet. | 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.