Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33038 | 99337;99338;99339 | chr2:178538717;178538716;178538715 | chr2:179403444;179403443;179403442 |
| N2AB | 31397 | 94414;94415;94416 | chr2:178538717;178538716;178538715 | chr2:179403444;179403443;179403442 |
| N2A | 30470 | 91633;91634;91635 | chr2:178538717;178538716;178538715 | chr2:179403444;179403443;179403442 |
| N2B | 23973 | 72142;72143;72144 | chr2:178538717;178538716;178538715 | chr2:179403444;179403443;179403442 |
| Novex-1 | 24098 | 72517;72518;72519 | chr2:178538717;178538716;178538715 | chr2:179403444;179403443;179403442 |
| Novex-2 | 24165 | 72718;72719;72720 | chr2:178538717;178538716;178538715 | chr2:179403444;179403443;179403442 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/I | None | None | 1.0 | N | 0.885 | 0.537 | 0.842324735218 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9916 | likely_pathogenic | 0.9908 | pathogenic | -2.105 | Highly Destabilizing | 0.999 | D | 0.59 | neutral | None | None | None | None | N |
| R/C | 0.7351 | likely_pathogenic | 0.7153 | pathogenic | -2.158 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| R/D | 0.9986 | likely_pathogenic | 0.9983 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| R/E | 0.9869 | likely_pathogenic | 0.9825 | pathogenic | -0.856 | Destabilizing | 0.999 | D | 0.609 | neutral | None | None | None | None | N |
| R/F | 0.9915 | likely_pathogenic | 0.9885 | pathogenic | -1.676 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| R/G | 0.9761 | likely_pathogenic | 0.9766 | pathogenic | -2.407 | Highly Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.519342128 | None | None | N |
| R/H | 0.6703 | likely_pathogenic | 0.6432 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/I | 0.9841 | likely_pathogenic | 0.9736 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.509871927 | None | None | N |
| R/K | 0.5512 | ambiguous | 0.4628 | ambiguous | -1.662 | Destabilizing | 0.997 | D | 0.447 | neutral | N | 0.485214377 | None | None | N |
| R/L | 0.9603 | likely_pathogenic | 0.9373 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| R/M | 0.9843 | likely_pathogenic | 0.9765 | pathogenic | -1.619 | Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| R/N | 0.9944 | likely_pathogenic | 0.9941 | pathogenic | -1.385 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| R/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| R/Q | 0.6277 | likely_pathogenic | 0.5762 | pathogenic | -1.43 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| R/S | 0.9926 | likely_pathogenic | 0.9926 | pathogenic | -2.339 | Highly Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.484370931 | None | None | N |
| R/T | 0.9925 | likely_pathogenic | 0.9905 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.794 | deleterious | N | 0.489374589 | None | None | N |
| R/V | 0.9881 | likely_pathogenic | 0.9824 | pathogenic | -1.517 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| R/W | 0.9304 | likely_pathogenic | 0.9175 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| R/Y | 0.9756 | likely_pathogenic | 0.9714 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.893 | 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.