Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20099 | 60520;60521;60522 | chr2:178591430;178591429;178591428 | chr2:179456157;179456156;179456155 |
| N2AB | 18458 | 55597;55598;55599 | chr2:178591430;178591429;178591428 | chr2:179456157;179456156;179456155 |
| N2A | 17531 | 52816;52817;52818 | chr2:178591430;178591429;178591428 | chr2:179456157;179456156;179456155 |
| N2B | 11034 | 33325;33326;33327 | chr2:178591430;178591429;178591428 | chr2:179456157;179456156;179456155 |
| Novex-1 | 11159 | 33700;33701;33702 | chr2:178591430;178591429;178591428 | chr2:179456157;179456156;179456155 |
| Novex-2 | 11226 | 33901;33902;33903 | chr2:178591430;178591429;178591428 | chr2:179456157;179456156;179456155 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | N | 0.725 | 0.437 | 0.613292534842 | gnomAD-4.0.0 | 6.87377E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01832E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4922 | ambiguous | 0.4655 | ambiguous | -1.34 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.526149428 | None | None | N |
| P/C | 0.9572 | likely_pathogenic | 0.9567 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| P/D | 0.9492 | likely_pathogenic | 0.9344 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| P/E | 0.8869 | likely_pathogenic | 0.8691 | pathogenic | -0.875 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| P/F | 0.9705 | likely_pathogenic | 0.9665 | pathogenic | -0.786 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| P/G | 0.8858 | likely_pathogenic | 0.8661 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| P/H | 0.7767 | likely_pathogenic | 0.739 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.515780505 | None | None | N |
| P/I | 0.9142 | likely_pathogenic | 0.9121 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| P/K | 0.9201 | likely_pathogenic | 0.8948 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| P/L | 0.6358 | likely_pathogenic | 0.6038 | pathogenic | -0.376 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.525226708 | None | None | N |
| P/M | 0.917 | likely_pathogenic | 0.9104 | pathogenic | -0.416 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/N | 0.9131 | likely_pathogenic | 0.8936 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| P/Q | 0.7657 | likely_pathogenic | 0.7392 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| P/R | 0.7963 | likely_pathogenic | 0.7553 | pathogenic | -0.776 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.50665959 | None | None | N |
| P/S | 0.6468 | likely_pathogenic | 0.6192 | pathogenic | -1.649 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.503637927 | None | None | N |
| P/T | 0.5989 | likely_pathogenic | 0.5793 | pathogenic | -1.45 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | N | 0.482107862 | None | None | N |
| P/V | 0.8183 | likely_pathogenic | 0.8178 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| P/W | 0.9821 | likely_pathogenic | 0.9791 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| P/Y | 0.9576 | likely_pathogenic | 0.9469 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.783 | 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.