Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15393 | 46402;46403;46404 | chr2:178620344;178620343;178620342 | chr2:179485071;179485070;179485069 |
| N2AB | 13752 | 41479;41480;41481 | chr2:178620344;178620343;178620342 | chr2:179485071;179485070;179485069 |
| N2A | 12825 | 38698;38699;38700 | chr2:178620344;178620343;178620342 | chr2:179485071;179485070;179485069 |
| N2B | 6328 | 19207;19208;19209 | chr2:178620344;178620343;178620342 | chr2:179485071;179485070;179485069 |
| Novex-1 | 6453 | 19582;19583;19584 | chr2:178620344;178620343;178620342 | chr2:179485071;179485070;179485069 |
| Novex-2 | 6520 | 19783;19784;19785 | chr2:178620344;178620343;178620342 | chr2:179485071;179485070;179485069 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1301808455  |
-1.917 | 0.999 | D | 0.601 | 0.712 | 0.53371040847 | gnomAD-2.1.1 | 1.25E-05 | None | None | None | None | N | None | 0 | 8.96E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1301808455 |
-1.917 | 0.999 | D | 0.601 | 0.712 | 0.53371040847 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31389E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/L | rs1301808455 |
-1.917 | 0.999 | D | 0.601 | 0.712 | 0.53371040847 | gnomAD-4.0.0 | 6.51383E-06 | None | None | None | None | N | None | 0 | 8.61683E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs1157527811 |
None | 1.0 | D | 0.843 | 0.819 | 0.865896427254 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 6.57E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| F/S | rs1157527811 |
None | 1.0 | D | 0.843 | 0.819 | 0.865896427254 | gnomAD-4.0.0 | 1.31664E-05 | None | None | None | None | N | None | 0 | 6.5703E-05 | None | 0 | 0 | None | 0 | 0 | 1.47236E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9931 | likely_pathogenic | 0.9971 | pathogenic | -3.046 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| F/C | 0.9917 | likely_pathogenic | 0.996 | pathogenic | -1.783 | Destabilizing | 1.0 | D | 0.844 | deleterious | D | 0.737155109 | None | None | N |
| F/D | 0.9971 | likely_pathogenic | 0.9986 | pathogenic | -2.931 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| F/E | 0.998 | likely_pathogenic | 0.9989 | pathogenic | -2.819 | Highly Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/G | 0.9976 | likely_pathogenic | 0.9988 | pathogenic | -3.411 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| F/H | 0.9933 | likely_pathogenic | 0.9962 | pathogenic | -1.726 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| F/I | 0.8267 | likely_pathogenic | 0.9024 | pathogenic | -1.878 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.516044835 | None | None | N |
| F/K | 0.9984 | likely_pathogenic | 0.9991 | pathogenic | -1.789 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| F/L | 0.9919 | likely_pathogenic | 0.9952 | pathogenic | -1.878 | Destabilizing | 0.999 | D | 0.601 | neutral | D | 0.590202993 | None | None | N |
| F/M | 0.9448 | likely_pathogenic | 0.9696 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| F/N | 0.9929 | likely_pathogenic | 0.9967 | pathogenic | -1.925 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| F/P | 0.9985 | likely_pathogenic | 0.9994 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| F/Q | 0.9981 | likely_pathogenic | 0.999 | pathogenic | -2.081 | Highly Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| F/R | 0.9968 | likely_pathogenic | 0.998 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| F/S | 0.9951 | likely_pathogenic | 0.9981 | pathogenic | -2.618 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.736724506 | None | None | N |
| F/T | 0.9914 | likely_pathogenic | 0.9969 | pathogenic | -2.413 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| F/V | 0.9035 | likely_pathogenic | 0.9533 | pathogenic | -2.272 | Highly Destabilizing | 1.0 | D | 0.768 | deleterious | N | 0.518441783 | None | None | N |
| F/W | 0.9007 | likely_pathogenic | 0.9239 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| F/Y | 0.6617 | likely_pathogenic | 0.7274 | pathogenic | -1.118 | Destabilizing | 0.999 | D | 0.545 | neutral | D | 0.736798662 | 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.