Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14380 | 43363;43364;43365 | chr2:178632993;178632992;178632991 | chr2:179497720;179497719;179497718 |
| N2AB | 12739 | 38440;38441;38442 | chr2:178632993;178632992;178632991 | chr2:179497720;179497719;179497718 |
| N2A | 11812 | 35659;35660;35661 | chr2:178632993;178632992;178632991 | chr2:179497720;179497719;179497718 |
| N2B | 5315 | 16168;16169;16170 | chr2:178632993;178632992;178632991 | chr2:179497720;179497719;179497718 |
| Novex-1 | 5440 | 16543;16544;16545 | chr2:178632993;178632992;178632991 | chr2:179497720;179497719;179497718 |
| Novex-2 | 5507 | 16744;16745;16746 | chr2:178632993;178632992;178632991 | chr2:179497720;179497719;179497718 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | rs557125278  |
-0.965 | 0.999 | N | 0.849 | 0.619 | 0.680717446325 | gnomAD-2.1.1 | 3.75811E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.30303E-03 | None | 0 | 7.84E-06 | 4.22654E-04 |
| C/R | rs557125278 |
-0.965 | 0.999 | N | 0.849 | 0.619 | 0.680717446325 | gnomAD-3.1.2 | 1.44615E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93648E-04 | None | 0 | 0 | 1.47E-05 | 4.13736E-03 | 0 |
| C/R | rs557125278 |
-0.965 | 0.999 | N | 0.849 | 0.619 | 0.680717446325 | 1000 genomes | 1.59744E-03 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 8.2E-03 | None |
| C/R | rs557125278 |
-0.965 | 0.999 | N | 0.849 | 0.619 | 0.680717446325 | gnomAD-4.0.0 | 2.07655E-04 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.23454E-05 | None | 0 | 3.30579E-04 | 1.35657E-05 | 3.31657E-03 | 2.24179E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7822 | likely_pathogenic | 0.7287 | pathogenic | -0.806 | Destabilizing | 0.995 | D | 0.601 | neutral | None | None | None | None | N |
| C/D | 0.9952 | likely_pathogenic | 0.9951 | pathogenic | -1.584 | Destabilizing | 0.999 | D | 0.869 | deleterious | None | None | None | None | N |
| C/E | 0.9973 | likely_pathogenic | 0.997 | pathogenic | -1.452 | Destabilizing | 0.999 | D | 0.858 | deleterious | None | None | None | None | N |
| C/F | 0.8362 | likely_pathogenic | 0.8399 | pathogenic | -0.792 | Destabilizing | 0.999 | D | 0.867 | deleterious | N | 0.48950449 | None | None | N |
| C/G | 0.7502 | likely_pathogenic | 0.7288 | pathogenic | -1.063 | Destabilizing | 0.999 | D | 0.867 | deleterious | N | 0.424161486 | None | None | N |
| C/H | 0.9884 | likely_pathogenic | 0.9884 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| C/I | 0.7422 | likely_pathogenic | 0.7001 | pathogenic | -0.179 | Destabilizing | 0.999 | D | 0.81 | deleterious | None | None | None | None | N |
| C/K | 0.9975 | likely_pathogenic | 0.9976 | pathogenic | -0.615 | Destabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| C/L | 0.6101 | likely_pathogenic | 0.5935 | pathogenic | -0.179 | Destabilizing | 0.998 | D | 0.685 | prob.delet. | None | None | None | None | N |
| C/M | 0.9118 | likely_pathogenic | 0.9017 | pathogenic | 0.231 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| C/N | 0.9782 | likely_pathogenic | 0.9737 | pathogenic | -0.994 | Destabilizing | 0.999 | D | 0.854 | deleterious | None | None | None | None | N |
| C/P | 0.9781 | likely_pathogenic | 0.9733 | pathogenic | -0.361 | Destabilizing | 0.999 | D | 0.859 | deleterious | None | None | None | None | N |
| C/Q | 0.9923 | likely_pathogenic | 0.9915 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| C/R | 0.978 | likely_pathogenic | 0.9791 | pathogenic | -0.85 | Destabilizing | 0.999 | D | 0.849 | deleterious | N | 0.490642195 | None | None | N |
| C/S | 0.8386 | likely_pathogenic | 0.7939 | pathogenic | -1.116 | Destabilizing | 0.999 | D | 0.838 | deleterious | N | 0.430018999 | None | None | N |
| C/T | 0.7323 | likely_pathogenic | 0.7381 | pathogenic | -0.838 | Destabilizing | 0.999 | D | 0.829 | deleterious | None | None | None | None | N |
| C/V | 0.5712 | likely_pathogenic | 0.5225 | ambiguous | -0.361 | Destabilizing | 0.998 | D | 0.724 | deleterious | None | None | None | None | N |
| C/W | 0.9854 | likely_pathogenic | 0.9838 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.492161864 | None | None | N |
| C/Y | 0.9565 | likely_pathogenic | 0.9572 | pathogenic | -0.857 | Destabilizing | 0.999 | D | 0.863 | deleterious | N | 0.490642195 | 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.