Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17141 | 51646;51647;51648 | chr2:178610105;178610104;178610103 | chr2:179474832;179474831;179474830 |
| N2AB | 15500 | 46723;46724;46725 | chr2:178610105;178610104;178610103 | chr2:179474832;179474831;179474830 |
| N2A | 14573 | 43942;43943;43944 | chr2:178610105;178610104;178610103 | chr2:179474832;179474831;179474830 |
| N2B | 8076 | 24451;24452;24453 | chr2:178610105;178610104;178610103 | chr2:179474832;179474831;179474830 |
| Novex-1 | 8201 | 24826;24827;24828 | chr2:178610105;178610104;178610103 | chr2:179474832;179474831;179474830 |
| Novex-2 | 8268 | 25027;25028;25029 | chr2:178610105;178610104;178610103 | chr2:179474832;179474831;179474830 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | None | None | 0.999 | N | 0.809 | 0.448 | 0.567605623258 | gnomAD-4.0.0 | 1.59351E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78738E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/S | None | None | 0.996 | N | 0.597 | 0.23 | 0.331876078066 | gnomAD-4.0.0 | 1.59348E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86184E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5761 | likely_pathogenic | 0.5835 | pathogenic | -1.956 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| A/D | 0.9986 | likely_pathogenic | 0.9971 | pathogenic | -3.071 | Highly Destabilizing | 0.999 | D | 0.809 | deleterious | N | 0.492570004 | None | None | N |
| A/E | 0.9966 | likely_pathogenic | 0.9934 | pathogenic | -2.913 | Highly Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | N |
| A/F | 0.9709 | likely_pathogenic | 0.9328 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/G | 0.7184 | likely_pathogenic | 0.6179 | pathogenic | -1.762 | Destabilizing | 0.996 | D | 0.553 | neutral | N | 0.492570004 | None | None | N |
| A/H | 0.9963 | likely_pathogenic | 0.9931 | pathogenic | -1.822 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/I | 0.7239 | likely_pathogenic | 0.6117 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/K | 0.9991 | likely_pathogenic | 0.9981 | pathogenic | -1.471 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| A/L | 0.6753 | likely_pathogenic | 0.5948 | pathogenic | -0.386 | Destabilizing | 0.997 | D | 0.775 | deleterious | None | None | None | None | N |
| A/M | 0.8199 | likely_pathogenic | 0.7237 | pathogenic | -0.896 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| A/N | 0.9866 | likely_pathogenic | 0.9788 | pathogenic | -1.861 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| A/P | 0.899 | likely_pathogenic | 0.8427 | pathogenic | -0.682 | Destabilizing | 0.451 | N | 0.441 | neutral | N | 0.478767709 | None | None | N |
| A/Q | 0.9893 | likely_pathogenic | 0.9826 | pathogenic | -1.771 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/R | 0.9952 | likely_pathogenic | 0.9919 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| A/S | 0.3795 | ambiguous | 0.3338 | benign | -2.167 | Highly Destabilizing | 0.996 | D | 0.597 | neutral | N | 0.492063025 | None | None | N |
| A/T | 0.5097 | ambiguous | 0.3962 | ambiguous | -1.906 | Destabilizing | 0.999 | D | 0.773 | deleterious | N | 0.462944859 | None | None | N |
| A/V | 0.5231 | ambiguous | 0.4084 | ambiguous | -0.682 | Destabilizing | 0.996 | D | 0.623 | neutral | N | 0.469439319 | None | None | N |
| A/W | 0.9983 | likely_pathogenic | 0.9959 | pathogenic | -1.514 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/Y | 0.9944 | likely_pathogenic | 0.9872 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.822 | 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.