Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28554 | 85885;85886;85887 | chr2:178560472;178560471;178560470 | chr2:179425199;179425198;179425197 |
| N2AB | 26913 | 80962;80963;80964 | chr2:178560472;178560471;178560470 | chr2:179425199;179425198;179425197 |
| N2A | 25986 | 78181;78182;78183 | chr2:178560472;178560471;178560470 | chr2:179425199;179425198;179425197 |
| N2B | 19489 | 58690;58691;58692 | chr2:178560472;178560471;178560470 | chr2:179425199;179425198;179425197 |
| Novex-1 | 19614 | 59065;59066;59067 | chr2:178560472;178560471;178560470 | chr2:179425199;179425198;179425197 |
| Novex-2 | 19681 | 59266;59267;59268 | chr2:178560472;178560471;178560470 | chr2:179425199;179425198;179425197 |
| 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/S | None | None | 1.0 | D | 0.873 | 0.748 | 0.703681620835 | gnomAD-4.0.0 | 1.36878E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99552E-07 | 1.15993E-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 | 0.4556 | ambiguous | 0.5088 | ambiguous | -2.125 | Highly Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.585368792 | None | None | N |
| P/C | 0.8694 | likely_pathogenic | 0.8711 | pathogenic | -2.545 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/D | 0.9967 | likely_pathogenic | 0.9959 | pathogenic | -3.441 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| P/E | 0.989 | likely_pathogenic | 0.9888 | pathogenic | -3.276 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| P/F | 0.9954 | likely_pathogenic | 0.995 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| P/G | 0.9596 | likely_pathogenic | 0.9612 | pathogenic | -2.564 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| P/H | 0.9842 | likely_pathogenic | 0.9832 | pathogenic | -2.067 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.666535339 | None | None | N |
| P/I | 0.8884 | likely_pathogenic | 0.9109 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| P/K | 0.9934 | likely_pathogenic | 0.9923 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/L | 0.7704 | likely_pathogenic | 0.7916 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.633860844 | None | None | N |
| P/M | 0.95 | likely_pathogenic | 0.9569 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/N | 0.9917 | likely_pathogenic | 0.9919 | pathogenic | -2.296 | Highly Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| P/Q | 0.9704 | likely_pathogenic | 0.9698 | pathogenic | -2.268 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| P/R | 0.9785 | likely_pathogenic | 0.9761 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.640795423 | None | None | N |
| P/S | 0.8542 | likely_pathogenic | 0.8763 | pathogenic | -2.788 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.640593619 | None | None | N |
| P/T | 0.7929 | likely_pathogenic | 0.8273 | pathogenic | -2.495 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.650314174 | None | None | N |
| P/V | 0.696 | likely_pathogenic | 0.7518 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | N |
| P/W | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.712 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/Y | 0.9974 | likely_pathogenic | 0.997 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.918 | 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.