Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33319 | 100180;100181;100182 | chr2:178537154;178537153;178537152 | chr2:179401881;179401880;179401879 |
| N2AB | 31678 | 95257;95258;95259 | chr2:178537154;178537153;178537152 | chr2:179401881;179401880;179401879 |
| N2A | 30751 | 92476;92477;92478 | chr2:178537154;178537153;178537152 | chr2:179401881;179401880;179401879 |
| N2B | 24254 | 72985;72986;72987 | chr2:178537154;178537153;178537152 | chr2:179401881;179401880;179401879 |
| Novex-1 | 24379 | 73360;73361;73362 | chr2:178537154;178537153;178537152 | chr2:179401881;179401880;179401879 |
| Novex-2 | 24446 | 73561;73562;73563 | chr2:178537154;178537153;178537152 | chr2:179401881;179401880;179401879 |
| 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/R | rs72648279  |
-0.398 | 1.0 | N | 0.866 | 0.586 | 0.576440599617 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 9.82E-05 | None | 0 | 0 | 0 |
| G/R | rs72648279 |
-0.398 | 1.0 | N | 0.866 | 0.586 | 0.576440599617 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs72648279 |
-0.398 | 1.0 | N | 0.866 | 0.586 | 0.576440599617 | gnomAD-4.0.0 | 1.79737E-05 | None | None | None | None | I | None | 1.33529E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61055E-05 | 7.68859E-05 | 3.20338E-05 |
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 | 0.9497 | likely_pathogenic | 0.9135 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.534430962 | None | None | I |
| G/C | 0.9857 | likely_pathogenic | 0.9764 | pathogenic | -0.738 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| G/D | 0.9954 | likely_pathogenic | 0.9907 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/E | 0.9966 | likely_pathogenic | 0.9934 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.533670493 | None | None | I |
| G/F | 0.9985 | likely_pathogenic | 0.9975 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/H | 0.998 | likely_pathogenic | 0.9962 | pathogenic | -0.651 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/I | 0.9984 | likely_pathogenic | 0.9977 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/K | 0.9968 | likely_pathogenic | 0.9936 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/L | 0.9978 | likely_pathogenic | 0.9967 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/M | 0.999 | likely_pathogenic | 0.9987 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/N | 0.996 | likely_pathogenic | 0.9936 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/P | 0.9996 | likely_pathogenic | 0.9995 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/Q | 0.9969 | likely_pathogenic | 0.9944 | pathogenic | -0.649 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/R | 0.9889 | likely_pathogenic | 0.9761 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.498133547 | None | None | I |
| G/S | 0.9515 | likely_pathogenic | 0.9194 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/T | 0.9944 | likely_pathogenic | 0.9922 | pathogenic | -0.565 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/V | 0.9964 | likely_pathogenic | 0.9945 | pathogenic | -0.348 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.535191431 | None | None | I |
| G/W | 0.9962 | likely_pathogenic | 0.9936 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/Y | 0.9981 | likely_pathogenic | 0.9964 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.809 | 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.