Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27012 | 81259;81260;81261 | chr2:178565098;178565097;178565096 | chr2:179429825;179429824;179429823 |
| N2AB | 25371 | 76336;76337;76338 | chr2:178565098;178565097;178565096 | chr2:179429825;179429824;179429823 |
| N2A | 24444 | 73555;73556;73557 | chr2:178565098;178565097;178565096 | chr2:179429825;179429824;179429823 |
| N2B | 17947 | 54064;54065;54066 | chr2:178565098;178565097;178565096 | chr2:179429825;179429824;179429823 |
| Novex-1 | 18072 | 54439;54440;54441 | chr2:178565098;178565097;178565096 | chr2:179429825;179429824;179429823 |
| Novex-2 | 18139 | 54640;54641;54642 | chr2:178565098;178565097;178565096 | chr2:179429825;179429824;179429823 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs550999055  |
-2.28 | 1.0 | N | 0.865 | 0.478 | 0.212008924253 | gnomAD-2.1.1 | 1.89191E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.53665E-03 | None | 0 | 0 | 0 |
| K/N | rs550999055 |
-2.28 | 1.0 | N | 0.865 | 0.478 | 0.212008924253 | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 1.86644E-03 | 0 |
| K/N | rs550999055 |
-2.28 | 1.0 | N | 0.865 | 0.478 | 0.212008924253 | 1000 genomes | 1.19808E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 6.1E-03 | None |
| K/N | rs550999055 |
-2.28 | 1.0 | N | 0.865 | 0.478 | 0.212008924253 | gnomAD-4.0.0 | 9.60622E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.62566E-03 | 1.12054E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.9167 | likely_pathogenic | 0.8962 | pathogenic | -1.406 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| K/C | 0.8339 | likely_pathogenic | 0.8073 | pathogenic | -1.467 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| K/D | 0.9939 | likely_pathogenic | 0.9922 | pathogenic | -2.363 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| K/E | 0.8233 | likely_pathogenic | 0.7928 | pathogenic | -2.032 | Highly Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.507919689 | None | None | N |
| K/F | 0.9645 | likely_pathogenic | 0.9616 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| K/G | 0.9513 | likely_pathogenic | 0.9381 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| K/H | 0.7293 | likely_pathogenic | 0.6939 | pathogenic | -1.504 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| K/I | 0.7981 | likely_pathogenic | 0.7673 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| K/L | 0.7633 | likely_pathogenic | 0.7388 | pathogenic | -0.001 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| K/M | 0.4094 | ambiguous | 0.3829 | ambiguous | -0.388 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.508360596 | None | None | N |
| K/N | 0.9555 | likely_pathogenic | 0.9466 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | N | 0.519275995 | None | None | N |
| K/P | 0.9992 | likely_pathogenic | 0.9988 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| K/Q | 0.3255 | likely_benign | 0.2817 | benign | -1.618 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.489815434 | None | None | N |
| K/R | 0.1462 | likely_benign | 0.1375 | benign | -0.825 | Destabilizing | 0.999 | D | 0.742 | deleterious | N | 0.518076157 | None | None | N |
| K/S | 0.9318 | likely_pathogenic | 0.9112 | pathogenic | -2.494 | Highly Destabilizing | 0.999 | D | 0.805 | deleterious | None | None | None | None | N |
| K/T | 0.7815 | likely_pathogenic | 0.7274 | pathogenic | -1.899 | Destabilizing | 1.0 | D | 0.845 | deleterious | N | 0.49743553 | None | None | N |
| K/V | 0.7773 | likely_pathogenic | 0.7414 | pathogenic | -0.453 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| K/W | 0.9538 | likely_pathogenic | 0.9454 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| K/Y | 0.8671 | likely_pathogenic | 0.858 | pathogenic | -0.431 | Destabilizing | 1.0 | D | 0.856 | 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.