Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22305 | 67138;67139;67140 | chr2:178580466;178580465;178580464 | chr2:179445193;179445192;179445191 |
| N2AB | 20664 | 62215;62216;62217 | chr2:178580466;178580465;178580464 | chr2:179445193;179445192;179445191 |
| N2A | 19737 | 59434;59435;59436 | chr2:178580466;178580465;178580464 | chr2:179445193;179445192;179445191 |
| N2B | 13240 | 39943;39944;39945 | chr2:178580466;178580465;178580464 | chr2:179445193;179445192;179445191 |
| Novex-1 | 13365 | 40318;40319;40320 | chr2:178580466;178580465;178580464 | chr2:179445193;179445192;179445191 |
| Novex-2 | 13432 | 40519;40520;40521 | chr2:178580466;178580465;178580464 | chr2:179445193;179445192;179445191 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | None | None | 1.0 | N | 0.64 | 0.361 | 0.194818534648 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| R/T | None | None | 1.0 | N | 0.717 | 0.466 | 0.278968121808 | gnomAD-4.0.0 | 1.59277E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86072E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.938 | likely_pathogenic | 0.9364 | pathogenic | -0.649 | Destabilizing | 0.999 | D | 0.597 | neutral | None | None | None | None | N |
| R/C | 0.6373 | likely_pathogenic | 0.6239 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| R/D | 0.9531 | likely_pathogenic | 0.9537 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| R/E | 0.8475 | likely_pathogenic | 0.8521 | pathogenic | 0.079 | Stabilizing | 0.999 | D | 0.67 | neutral | None | None | None | None | N |
| R/F | 0.9576 | likely_pathogenic | 0.9565 | pathogenic | -0.749 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| R/G | 0.8879 | likely_pathogenic | 0.8847 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.64 | neutral | N | 0.502860696 | None | None | N |
| R/H | 0.4134 | ambiguous | 0.4071 | ambiguous | -1.3 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| R/I | 0.7894 | likely_pathogenic | 0.7894 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| R/K | 0.3653 | ambiguous | 0.3876 | ambiguous | -0.566 | Destabilizing | 0.997 | D | 0.576 | neutral | N | 0.51057889 | None | None | N |
| R/L | 0.8054 | likely_pathogenic | 0.806 | pathogenic | 0.033 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| R/M | 0.8686 | likely_pathogenic | 0.8677 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.486202631 | None | None | N |
| R/N | 0.9401 | likely_pathogenic | 0.9402 | pathogenic | -0.03 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/P | 0.9721 | likely_pathogenic | 0.9685 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | N |
| R/Q | 0.3768 | ambiguous | 0.3677 | ambiguous | -0.272 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/S | 0.9509 | likely_pathogenic | 0.9509 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.488352604 | None | None | N |
| R/T | 0.8698 | likely_pathogenic | 0.8692 | pathogenic | -0.503 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.512021684 | None | None | N |
| R/V | 0.8463 | likely_pathogenic | 0.8478 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| R/W | 0.6846 | likely_pathogenic | 0.6706 | pathogenic | -0.506 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.49797701 | None | None | N |
| R/Y | 0.8588 | likely_pathogenic | 0.8564 | pathogenic | -0.155 | Destabilizing | 1.0 | D | 0.753 | 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.