Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29431 | 88516;88517;88518 | chr2:178556863;178556862;178556861 | chr2:179421590;179421589;179421588 |
| N2AB | 27790 | 83593;83594;83595 | chr2:178556863;178556862;178556861 | chr2:179421590;179421589;179421588 |
| N2A | 26863 | 80812;80813;80814 | chr2:178556863;178556862;178556861 | chr2:179421590;179421589;179421588 |
| N2B | 20366 | 61321;61322;61323 | chr2:178556863;178556862;178556861 | chr2:179421590;179421589;179421588 |
| Novex-1 | 20491 | 61696;61697;61698 | chr2:178556863;178556862;178556861 | chr2:179421590;179421589;179421588 |
| Novex-2 | 20558 | 61897;61898;61899 | chr2:178556863;178556862;178556861 | chr2:179421590;179421589;179421588 |
| 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 | rs1701716122  |
None | 0.999 | N | 0.827 | 0.596 | 0.66535406512 | gnomAD-4.0.0 | 3.42159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49728E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7064 | likely_pathogenic | 0.6377 | pathogenic | -1.038 | Destabilizing | 0.995 | D | 0.585 | neutral | None | None | None | None | N |
| C/D | 0.9981 | likely_pathogenic | 0.9969 | pathogenic | -1.675 | Destabilizing | 0.999 | D | 0.835 | deleterious | None | None | None | None | N |
| C/E | 0.9988 | likely_pathogenic | 0.9981 | pathogenic | -1.505 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| C/F | 0.8913 | likely_pathogenic | 0.8224 | pathogenic | -1.04 | Destabilizing | 0.999 | D | 0.844 | deleterious | N | 0.461093256 | None | None | N |
| C/G | 0.7844 | likely_pathogenic | 0.6842 | pathogenic | -1.262 | Destabilizing | 0.999 | D | 0.823 | deleterious | N | 0.460586277 | None | None | N |
| C/H | 0.9941 | likely_pathogenic | 0.9904 | pathogenic | -1.8 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| C/I | 0.7145 | likely_pathogenic | 0.6664 | pathogenic | -0.48 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| C/K | 0.9989 | likely_pathogenic | 0.9981 | pathogenic | -0.685 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| C/L | 0.759 | likely_pathogenic | 0.6902 | pathogenic | -0.48 | Destabilizing | 0.998 | D | 0.684 | prob.delet. | None | None | None | None | N |
| C/M | 0.9272 | likely_pathogenic | 0.9028 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| C/N | 0.9829 | likely_pathogenic | 0.9736 | pathogenic | -1.091 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| C/P | 0.9453 | likely_pathogenic | 0.9326 | pathogenic | -0.644 | Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| C/Q | 0.9955 | likely_pathogenic | 0.9926 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| C/R | 0.9876 | likely_pathogenic | 0.9788 | pathogenic | -1.091 | Destabilizing | 0.999 | D | 0.827 | deleterious | N | 0.460586277 | None | None | N |
| C/S | 0.8518 | likely_pathogenic | 0.788 | pathogenic | -1.194 | Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.448811898 | None | None | N |
| C/T | 0.8705 | likely_pathogenic | 0.8263 | pathogenic | -0.893 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| C/V | 0.5497 | ambiguous | 0.5 | ambiguous | -0.644 | Destabilizing | 0.998 | D | 0.719 | prob.delet. | None | None | None | None | N |
| C/W | 0.9908 | likely_pathogenic | 0.9836 | pathogenic | -1.552 | Destabilizing | 1.0 | D | 0.817 | deleterious | N | 0.461853725 | None | None | N |
| C/Y | 0.975 | likely_pathogenic | 0.956 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.845 | deleterious | N | 0.461093256 | 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.