Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31835 | 95728;95729;95730 | chr2:178545607;178545606;178545605 | chr2:179410334;179410333;179410332 |
| N2AB | 30194 | 90805;90806;90807 | chr2:178545607;178545606;178545605 | chr2:179410334;179410333;179410332 |
| N2A | 29267 | 88024;88025;88026 | chr2:178545607;178545606;178545605 | chr2:179410334;179410333;179410332 |
| N2B | 22770 | 68533;68534;68535 | chr2:178545607;178545606;178545605 | chr2:179410334;179410333;179410332 |
| Novex-1 | 22895 | 68908;68909;68910 | chr2:178545607;178545606;178545605 | chr2:179410334;179410333;179410332 |
| Novex-2 | 22962 | 69109;69110;69111 | chr2:178545607;178545606;178545605 | chr2:179410334;179410333;179410332 |
| 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 | rs760663349  |
-0.227 | 1.0 | D | 0.833 | 0.785 | 0.434272847907 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/R | None | None | 1.0 | N | 0.863 | 0.778 | 0.68937278472 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 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 | 0.8938 | likely_pathogenic | 0.9134 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.536076803 | None | None | I |
| G/C | 0.9657 | likely_pathogenic | 0.9698 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.555448506 | None | None | I |
| G/D | 0.9859 | likely_pathogenic | 0.9885 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.529947511 | None | None | I |
| G/E | 0.9908 | likely_pathogenic | 0.9933 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| G/F | 0.9945 | likely_pathogenic | 0.9954 | pathogenic | -1.113 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/H | 0.9926 | likely_pathogenic | 0.9942 | pathogenic | -0.508 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/I | 0.9957 | likely_pathogenic | 0.9967 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/K | 0.9935 | likely_pathogenic | 0.9953 | pathogenic | -0.665 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/L | 0.9924 | likely_pathogenic | 0.9943 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/M | 0.9959 | likely_pathogenic | 0.9969 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/N | 0.9754 | likely_pathogenic | 0.9813 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| G/P | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/Q | 0.9888 | likely_pathogenic | 0.9916 | pathogenic | -0.635 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/R | 0.9772 | likely_pathogenic | 0.982 | pathogenic | -0.194 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.510477357 | None | None | I |
| G/S | 0.8234 | likely_pathogenic | 0.8607 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.806 | deleterious | D | 0.530201 | None | None | I |
| G/T | 0.9824 | likely_pathogenic | 0.9872 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/V | 0.9916 | likely_pathogenic | 0.9933 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.85 | deleterious | D | 0.543585222 | None | None | I |
| G/W | 0.9891 | likely_pathogenic | 0.9908 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/Y | 0.9912 | likely_pathogenic | 0.9929 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.817 | 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.