Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17553 | 52882;52883;52884 | chr2:178608226;178608225;178608224 | chr2:179472953;179472952;179472951 |
| N2AB | 15912 | 47959;47960;47961 | chr2:178608226;178608225;178608224 | chr2:179472953;179472952;179472951 |
| N2A | 14985 | 45178;45179;45180 | chr2:178608226;178608225;178608224 | chr2:179472953;179472952;179472951 |
| N2B | 8488 | 25687;25688;25689 | chr2:178608226;178608225;178608224 | chr2:179472953;179472952;179472951 |
| Novex-1 | 8613 | 26062;26063;26064 | chr2:178608226;178608225;178608224 | chr2:179472953;179472952;179472951 |
| Novex-2 | 8680 | 26263;26264;26265 | chr2:178608226;178608225;178608224 | chr2:179472953;179472952;179472951 |
| 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/E | rs746747781  |
-1.702 | 1.0 | D | 0.915 | 0.815 | 0.702165677142 | gnomAD-2.1.1 | 8.29E-06 | None | None | None | None | N | None | 1.32345E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs746747781 |
-1.702 | 1.0 | D | 0.915 | 0.815 | 0.702165677142 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs746747781 |
-1.702 | 1.0 | D | 0.915 | 0.815 | 0.702165677142 | gnomAD-4.0.0 | 1.86856E-06 | None | None | None | None | N | None | 4.02015E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7359 | likely_pathogenic | 0.728 | pathogenic | -0.79 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | D | 0.530314175 | None | None | N |
| G/C | 0.9525 | likely_pathogenic | 0.9486 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| G/D | 0.9924 | likely_pathogenic | 0.9906 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| G/E | 0.9933 | likely_pathogenic | 0.9913 | pathogenic | -1.64 | Destabilizing | 1.0 | D | 0.915 | deleterious | D | 0.548925409 | None | None | N |
| G/F | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/H | 0.9967 | likely_pathogenic | 0.9956 | pathogenic | -1.557 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/I | 0.997 | likely_pathogenic | 0.996 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/K | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.363 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/L | 0.9946 | likely_pathogenic | 0.993 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| G/M | 0.9964 | likely_pathogenic | 0.9952 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/N | 0.9914 | likely_pathogenic | 0.9906 | pathogenic | -1.051 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9991 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| G/Q | 0.9928 | likely_pathogenic | 0.991 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| G/R | 0.9945 | likely_pathogenic | 0.9928 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.918 | deleterious | D | 0.526719777 | None | None | N |
| G/S | 0.3449 | ambiguous | 0.3452 | ambiguous | -1.267 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/T | 0.9315 | likely_pathogenic | 0.9365 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/V | 0.9914 | likely_pathogenic | 0.9887 | pathogenic | -0.424 | Destabilizing | 1.0 | D | 0.902 | deleterious | D | 0.549685878 | None | None | N |
| G/W | 0.9971 | likely_pathogenic | 0.9954 | pathogenic | -1.463 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| G/Y | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.871 | 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.