Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14071 | 42436;42437;42438 | chr2:178634570;178634569;178634568 | chr2:179499297;179499296;179499295 |
| N2AB | 12430 | 37513;37514;37515 | chr2:178634570;178634569;178634568 | chr2:179499297;179499296;179499295 |
| N2A | 11503 | 34732;34733;34734 | chr2:178634570;178634569;178634568 | chr2:179499297;179499296;179499295 |
| N2B | 5006 | 15241;15242;15243 | chr2:178634570;178634569;178634568 | chr2:179499297;179499296;179499295 |
| Novex-1 | 5131 | 15616;15617;15618 | chr2:178634570;178634569;178634568 | chr2:179499297;179499296;179499295 |
| Novex-2 | 5198 | 15817;15818;15819 | chr2:178634570;178634569;178634568 | chr2:179499297;179499296;179499295 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | None | None | 1.0 | D | 0.856 | 0.532 | 0.447012531364 | gnomAD-4.0.0 | 2.05319E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69896E-06 | 0 | 0 |
| A/T | rs2154227681  |
None | 0.999 | D | 0.749 | 0.431 | 0.340753184043 | gnomAD-4.0.0 | 6.84396E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99654E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9106 | likely_pathogenic | 0.8748 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| A/D | 0.9951 | likely_pathogenic | 0.9928 | pathogenic | -1.493 | Destabilizing | 0.999 | D | 0.839 | deleterious | D | 0.679479781 | None | None | N |
| A/E | 0.9911 | likely_pathogenic | 0.9882 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/F | 0.9842 | likely_pathogenic | 0.9825 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| A/G | 0.3929 | ambiguous | 0.346 | ambiguous | -1.293 | Destabilizing | 0.434 | N | 0.339 | neutral | D | 0.554508396 | None | None | N |
| A/H | 0.9967 | likely_pathogenic | 0.9958 | pathogenic | -1.643 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| A/I | 0.9316 | likely_pathogenic | 0.8959 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/K | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| A/L | 0.8796 | likely_pathogenic | 0.8622 | pathogenic | 0.182 | Stabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| A/M | 0.9463 | likely_pathogenic | 0.933 | pathogenic | 0.061 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/N | 0.9904 | likely_pathogenic | 0.9861 | pathogenic | -1.149 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/P | 0.9921 | likely_pathogenic | 0.991 | pathogenic | -0.124 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.679357497 | None | None | N |
| A/Q | 0.9876 | likely_pathogenic | 0.9851 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/R | 0.9917 | likely_pathogenic | 0.99 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/S | 0.5008 | ambiguous | 0.4392 | ambiguous | -1.597 | Destabilizing | 0.996 | D | 0.579 | neutral | D | 0.678118397 | None | None | N |
| A/T | 0.7653 | likely_pathogenic | 0.6899 | pathogenic | -1.353 | Destabilizing | 0.999 | D | 0.749 | deleterious | D | 0.57832545 | None | None | N |
| A/V | 0.7267 | likely_pathogenic | 0.6336 | pathogenic | -0.124 | Destabilizing | 0.999 | D | 0.674 | neutral | N | 0.438642075 | None | None | N |
| A/W | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.291 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/Y | 0.995 | likely_pathogenic | 0.9939 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.859 | 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.