Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32092 | 96499;96500;96501 | chr2:178543870;178543869;178543868 | chr2:179408597;179408596;179408595 |
| N2AB | 30451 | 91576;91577;91578 | chr2:178543870;178543869;178543868 | chr2:179408597;179408596;179408595 |
| N2A | 29524 | 88795;88796;88797 | chr2:178543870;178543869;178543868 | chr2:179408597;179408596;179408595 |
| N2B | 23027 | 69304;69305;69306 | chr2:178543870;178543869;178543868 | chr2:179408597;179408596;179408595 |
| Novex-1 | 23152 | 69679;69680;69681 | chr2:178543870;178543869;178543868 | chr2:179408597;179408596;179408595 |
| Novex-2 | 23219 | 69880;69881;69882 | chr2:178543870;178543869;178543868 | chr2:179408597;179408596;179408595 |
| 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 | rs772540419  |
-0.722 | 1.0 | D | 0.846 | 0.628 | 0.585653999902 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.30727E-04 | None | 0 | 0 | 0 |
| G/D | rs772540419 |
-0.722 | 1.0 | D | 0.846 | 0.628 | 0.585653999902 | gnomAD-4.0.0 | 7.95793E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.16414E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.861 | 0.667 | 0.770659404396 | gnomAD-4.0.0 | 3.18308E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.0507E-05 |
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 | 0.7297 | likely_pathogenic | 0.692 | pathogenic | -0.209 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | D | 0.609890754 | None | None | I |
| G/C | 0.8736 | likely_pathogenic | 0.8391 | pathogenic | -0.818 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.664731614 | None | None | I |
| G/D | 0.9335 | likely_pathogenic | 0.9157 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.605308182 | None | None | I |
| G/E | 0.9351 | likely_pathogenic | 0.9173 | pathogenic | -0.904 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/F | 0.9822 | likely_pathogenic | 0.9767 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/H | 0.9623 | likely_pathogenic | 0.9488 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/I | 0.9778 | likely_pathogenic | 0.9692 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/K | 0.9483 | likely_pathogenic | 0.9295 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/L | 0.968 | likely_pathogenic | 0.9545 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/M | 0.9739 | likely_pathogenic | 0.9645 | pathogenic | -0.452 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/N | 0.9183 | likely_pathogenic | 0.8941 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/P | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Q | 0.8998 | likely_pathogenic | 0.8752 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/R | 0.878 | likely_pathogenic | 0.8428 | pathogenic | -0.277 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.626344084 | None | None | I |
| G/S | 0.5711 | likely_pathogenic | 0.5235 | ambiguous | -0.451 | Destabilizing | 1.0 | D | 0.784 | deleterious | D | 0.598373602 | None | None | I |
| G/T | 0.9115 | likely_pathogenic | 0.8895 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/V | 0.953 | likely_pathogenic | 0.9391 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.836 | deleterious | D | 0.664328005 | None | None | I |
| G/W | 0.9597 | likely_pathogenic | 0.9473 | pathogenic | -1.199 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/Y | 0.9717 | likely_pathogenic | 0.962 | pathogenic | -0.857 | Destabilizing | 1.0 | D | 0.837 | 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.