Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20967 | 63124;63125;63126 | chr2:178588826;178588825;178588824 | chr2:179453553;179453552;179453551 |
| N2AB | 19326 | 58201;58202;58203 | chr2:178588826;178588825;178588824 | chr2:179453553;179453552;179453551 |
| N2A | 18399 | 55420;55421;55422 | chr2:178588826;178588825;178588824 | chr2:179453553;179453552;179453551 |
| N2B | 11902 | 35929;35930;35931 | chr2:178588826;178588825;178588824 | chr2:179453553;179453552;179453551 |
| Novex-1 | 12027 | 36304;36305;36306 | chr2:178588826;178588825;178588824 | chr2:179453553;179453552;179453551 |
| Novex-2 | 12094 | 36505;36506;36507 | chr2:178588826;178588825;178588824 | chr2:179453553;179453552;179453551 |
| 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/A | None | None | 1.0 | D | 0.831 | 0.551 | 0.592972149432 | gnomAD-4.0.0 | 1.36872E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9958E-07 | 1.15955E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.6148 | likely_pathogenic | 0.5857 | pathogenic | -2.084 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.544309005 | None | None | N |
| P/C | 0.7475 | likely_pathogenic | 0.6922 | pathogenic | -2.042 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| P/D | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -3.301 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| P/E | 0.9969 | likely_pathogenic | 0.9972 | pathogenic | -3.134 | Highly Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| P/F | 0.9975 | likely_pathogenic | 0.9982 | pathogenic | -0.908 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| P/G | 0.9729 | likely_pathogenic | 0.9696 | pathogenic | -2.507 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/H | 0.9952 | likely_pathogenic | 0.9957 | pathogenic | -2.029 | Highly Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.563262634 | None | None | N |
| P/I | 0.9098 | likely_pathogenic | 0.9342 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | N |
| P/K | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| P/L | 0.8305 | likely_pathogenic | 0.8711 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.903 | deleterious | D | 0.543548537 | None | None | N |
| P/M | 0.9506 | likely_pathogenic | 0.9571 | pathogenic | -1.266 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/N | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -2.1 | Highly Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/Q | 0.9912 | likely_pathogenic | 0.9921 | pathogenic | -1.995 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/R | 0.9934 | likely_pathogenic | 0.994 | pathogenic | -1.486 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.562755655 | None | None | N |
| P/S | 0.9517 | likely_pathogenic | 0.9466 | pathogenic | -2.516 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.545069474 | None | None | N |
| P/T | 0.8562 | likely_pathogenic | 0.8695 | pathogenic | -2.242 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.550892371 | None | None | N |
| P/V | 0.768 | likely_pathogenic | 0.8001 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| P/W | 0.9993 | likely_pathogenic | 0.9995 | pathogenic | -1.403 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.911 | 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.