Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23810 | 71653;71654;71655 | chr2:178574704;178574703;178574702 | chr2:179439431;179439430;179439429 |
| N2AB | 22169 | 66730;66731;66732 | chr2:178574704;178574703;178574702 | chr2:179439431;179439430;179439429 |
| N2A | 21242 | 63949;63950;63951 | chr2:178574704;178574703;178574702 | chr2:179439431;179439430;179439429 |
| N2B | 14745 | 44458;44459;44460 | chr2:178574704;178574703;178574702 | chr2:179439431;179439430;179439429 |
| Novex-1 | 14870 | 44833;44834;44835 | chr2:178574704;178574703;178574702 | chr2:179439431;179439430;179439429 |
| Novex-2 | 14937 | 45034;45035;45036 | chr2:178574704;178574703;178574702 | chr2:179439431;179439430;179439429 |
| 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/V | None | None | 1.0 | D | 0.927 | 0.77 | 0.738310842359 | gnomAD-4.0.0 | 1.59227E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43423E-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 | 0.7764 | likely_pathogenic | 0.7315 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.531358268 | None | None | N |
| G/C | 0.9561 | likely_pathogenic | 0.9474 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| G/D | 0.9939 | likely_pathogenic | 0.9937 | pathogenic | -1.368 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/E | 0.9943 | likely_pathogenic | 0.9943 | pathogenic | -1.409 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.524356829 | None | None | N |
| G/F | 0.9951 | likely_pathogenic | 0.9948 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/H | 0.9948 | likely_pathogenic | 0.9944 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/I | 0.9936 | likely_pathogenic | 0.9931 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/K | 0.998 | likely_pathogenic | 0.9982 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| G/L | 0.9903 | likely_pathogenic | 0.9893 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| G/M | 0.9947 | likely_pathogenic | 0.994 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/N | 0.9906 | likely_pathogenic | 0.9889 | pathogenic | -1.102 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| G/P | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| G/Q | 0.9937 | likely_pathogenic | 0.9936 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.919 | deleterious | None | None | None | None | N |
| G/R | 0.9946 | likely_pathogenic | 0.9949 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.932 | deleterious | D | 0.542207594 | None | None | N |
| G/S | 0.4978 | ambiguous | 0.438 | ambiguous | -1.339 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/T | 0.9554 | likely_pathogenic | 0.9459 | pathogenic | -1.308 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| G/V | 0.9881 | likely_pathogenic | 0.9872 | pathogenic | -0.435 | Destabilizing | 1.0 | D | 0.927 | deleterious | D | 0.543221552 | None | None | N |
| G/W | 0.9927 | likely_pathogenic | 0.9927 | pathogenic | -1.328 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Y | 0.9945 | likely_pathogenic | 0.9938 | pathogenic | -0.922 | Destabilizing | 1.0 | D | 0.899 | 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.