Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1730 | 5413;5414;5415 | chr2:178776676;178776675;178776674 | chr2:179641403;179641402;179641401 |
| N2AB | 1730 | 5413;5414;5415 | chr2:178776676;178776675;178776674 | chr2:179641403;179641402;179641401 |
| N2A | 1730 | 5413;5414;5415 | chr2:178776676;178776675;178776674 | chr2:179641403;179641402;179641401 |
| N2B | 1684 | 5275;5276;5277 | chr2:178776676;178776675;178776674 | chr2:179641403;179641402;179641401 |
| Novex-1 | 1684 | 5275;5276;5277 | chr2:178776676;178776675;178776674 | chr2:179641403;179641402;179641401 |
| Novex-2 | 1684 | 5275;5276;5277 | chr2:178776676;178776675;178776674 | chr2:179641403;179641402;179641401 |
| Novex-3 | 1730 | 5413;5414;5415 | chr2:178776676;178776675;178776674 | chr2:179641403;179641402;179641401 |
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 | rs1485641698  |
-1.856 | 1.0 | D | 0.842 | 0.887 | 0.615685111792 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.46E-05 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1485641698 |
-1.856 | 1.0 | D | 0.842 | 0.887 | 0.615685111792 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1485641698 |
-1.856 | 1.0 | D | 0.842 | 0.887 | 0.615685111792 | gnomAD-4.0.0 | 6.57022E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9253E-04 | None | 0 | 0 | 0 | 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 | 0.7956 | likely_pathogenic | 0.8008 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.639926581 | None | None | N |
| G/C | 0.9484 | likely_pathogenic | 0.9381 | pathogenic | -0.916 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | D | 0.807811544 | None | None | N |
| G/D | 0.9825 | likely_pathogenic | 0.9839 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.75325984 | None | None | N |
| G/E | 0.9858 | likely_pathogenic | 0.9871 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/F | 0.9912 | likely_pathogenic | 0.9905 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/H | 0.9931 | likely_pathogenic | 0.9926 | pathogenic | -0.407 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/I | 0.9852 | likely_pathogenic | 0.9869 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.9958 | likely_pathogenic | 0.9956 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/L | 0.9762 | likely_pathogenic | 0.9769 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| G/M | 0.9889 | likely_pathogenic | 0.9886 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/N | 0.9706 | likely_pathogenic | 0.971 | pathogenic | -0.497 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/P | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.9845 | likely_pathogenic | 0.9836 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/R | 0.9861 | likely_pathogenic | 0.9853 | pathogenic | -0.412 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.736815498 | None | None | N |
| G/S | 0.7473 | likely_pathogenic | 0.7414 | pathogenic | -0.607 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.590795049 | None | None | N |
| G/T | 0.9385 | likely_pathogenic | 0.938 | pathogenic | -0.693 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/V | 0.9752 | likely_pathogenic | 0.9781 | pathogenic | -0.363 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.807988614 | None | None | N |
| G/W | 0.9901 | likely_pathogenic | 0.9885 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/Y | 0.9915 | likely_pathogenic | 0.9908 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.784 | 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.