Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20057 | 60394;60395;60396 | chr2:178591650;178591649;178591648 | chr2:179456377;179456376;179456375 |
| N2AB | 18416 | 55471;55472;55473 | chr2:178591650;178591649;178591648 | chr2:179456377;179456376;179456375 |
| N2A | 17489 | 52690;52691;52692 | chr2:178591650;178591649;178591648 | chr2:179456377;179456376;179456375 |
| N2B | 10992 | 33199;33200;33201 | chr2:178591650;178591649;178591648 | chr2:179456377;179456376;179456375 |
| Novex-1 | 11117 | 33574;33575;33576 | chr2:178591650;178591649;178591648 | chr2:179456377;179456376;179456375 |
| Novex-2 | 11184 | 33775;33776;33777 | chr2:178591650;178591649;178591648 | chr2:179456377;179456376;179456375 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | None | None | 1.0 | D | 0.901 | 0.581 | 0.638171007754 | gnomAD-4.0.0 | 6.8433E-07 | None | None | None | None | I | None | 0 | 2.23634E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs750064931  |
-0.334 | 1.0 | D | 0.872 | 0.583 | 0.809523646086 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| G/V | rs750064931 |
-0.334 | 1.0 | D | 0.872 | 0.583 | 0.809523646086 | gnomAD-4.0.0 | 2.05299E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69885E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7611 | likely_pathogenic | 0.8797 | pathogenic | -0.668 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.546908536 | None | None | I |
| G/C | 0.8623 | likely_pathogenic | 0.9616 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.554759349 | None | None | I |
| G/D | 0.9433 | likely_pathogenic | 0.9747 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.532411906 | None | None | I |
| G/E | 0.9698 | likely_pathogenic | 0.9864 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/F | 0.9847 | likely_pathogenic | 0.9936 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/H | 0.9769 | likely_pathogenic | 0.9915 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/I | 0.9828 | likely_pathogenic | 0.994 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/K | 0.9809 | likely_pathogenic | 0.9917 | pathogenic | -1.237 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/L | 0.9756 | likely_pathogenic | 0.9903 | pathogenic | -0.588 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/M | 0.9849 | likely_pathogenic | 0.9946 | pathogenic | -0.496 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/N | 0.9595 | likely_pathogenic | 0.9831 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/P | 0.9979 | likely_pathogenic | 0.9987 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/Q | 0.9667 | likely_pathogenic | 0.9848 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/R | 0.955 | likely_pathogenic | 0.9782 | pathogenic | -0.737 | Destabilizing | 1.0 | D | 0.893 | deleterious | D | 0.553745391 | None | None | I |
| G/S | 0.6626 | likely_pathogenic | 0.8233 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.537843182 | None | None | I |
| G/T | 0.9184 | likely_pathogenic | 0.9694 | pathogenic | -1.103 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/V | 0.9664 | likely_pathogenic | 0.9879 | pathogenic | -0.577 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.542642575 | None | None | I |
| G/W | 0.9804 | likely_pathogenic | 0.9912 | pathogenic | -1.352 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Y | 0.9752 | likely_pathogenic | 0.9902 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
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.