Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21068 | 63427;63428;63429 | chr2:178588205;178588204;178588203 | chr2:179452932;179452931;179452930 |
| N2AB | 19427 | 58504;58505;58506 | chr2:178588205;178588204;178588203 | chr2:179452932;179452931;179452930 |
| N2A | 18500 | 55723;55724;55725 | chr2:178588205;178588204;178588203 | chr2:179452932;179452931;179452930 |
| N2B | 12003 | 36232;36233;36234 | chr2:178588205;178588204;178588203 | chr2:179452932;179452931;179452930 |
| Novex-1 | 12128 | 36607;36608;36609 | chr2:178588205;178588204;178588203 | chr2:179452932;179452931;179452930 |
| Novex-2 | 12195 | 36808;36809;36810 | chr2:178588205;178588204;178588203 | chr2:179452932;179452931;179452930 |
| 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 | D | 0.92 | 0.744 | 0.81668028202 | gnomAD-4.0.0 | 3.41293E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.15547E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7319 | likely_pathogenic | 0.7482 | pathogenic | -2.138 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.522215051 | None | None | N |
| P/C | 0.9679 | likely_pathogenic | 0.9581 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -3.206 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/E | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -2.953 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| P/F | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| P/G | 0.9888 | likely_pathogenic | 0.9877 | pathogenic | -2.689 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| P/H | 0.9958 | likely_pathogenic | 0.9955 | pathogenic | -2.51 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| P/I | 0.9031 | likely_pathogenic | 0.8835 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| P/K | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | -1.684 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/L | 0.862 | likely_pathogenic | 0.8468 | pathogenic | -0.571 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.564513174 | None | None | N |
| P/M | 0.9766 | likely_pathogenic | 0.9703 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/N | 0.9976 | likely_pathogenic | 0.9973 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| P/Q | 0.9925 | likely_pathogenic | 0.9916 | pathogenic | -1.953 | Destabilizing | 1.0 | D | 0.876 | deleterious | D | 0.565273643 | None | None | N |
| P/R | 0.9926 | likely_pathogenic | 0.9916 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.92 | deleterious | D | 0.565273643 | None | None | N |
| P/S | 0.9701 | likely_pathogenic | 0.9689 | pathogenic | -2.724 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.553499264 | None | None | N |
| P/T | 0.9152 | likely_pathogenic | 0.9092 | pathogenic | -2.329 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.565020153 | None | None | N |
| P/V | 0.7585 | likely_pathogenic | 0.7305 | pathogenic | -1.071 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -1.691 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/Y | 0.9991 | likely_pathogenic | 0.999 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.915 | 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.