Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20454 | 61585;61586;61587 | chr2:178590365;178590364;178590363 | chr2:179455092;179455091;179455090 |
| N2AB | 18813 | 56662;56663;56664 | chr2:178590365;178590364;178590363 | chr2:179455092;179455091;179455090 |
| N2A | 17886 | 53881;53882;53883 | chr2:178590365;178590364;178590363 | chr2:179455092;179455091;179455090 |
| N2B | 11389 | 34390;34391;34392 | chr2:178590365;178590364;178590363 | chr2:179455092;179455091;179455090 |
| Novex-1 | 11514 | 34765;34766;34767 | chr2:178590365;178590364;178590363 | chr2:179455092;179455091;179455090 |
| Novex-2 | 11581 | 34966;34967;34968 | chr2:178590365;178590364;178590363 | chr2:179455092;179455091;179455090 |
| 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 | rs1364454525  |
-0.93 | 1.0 | D | 0.9 | 0.645 | 0.578261666919 | gnomAD-4.0.0 | 1.40006E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.12359E-07 | 1.26804E-05 | 0 |
| G/R | None | None | 1.0 | D | 0.912 | 0.65 | 0.505091552036 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.836 | likely_pathogenic | 0.8122 | pathogenic | -0.535 | Destabilizing | 1.0 | D | 0.761 | deleterious | D | 0.541479443 | None | None | I |
| G/C | 0.9139 | likely_pathogenic | 0.9118 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/D | 0.9236 | likely_pathogenic | 0.9114 | pathogenic | -0.881 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/E | 0.9669 | likely_pathogenic | 0.957 | pathogenic | -1.029 | Destabilizing | 1.0 | D | 0.9 | deleterious | D | 0.55232877 | None | None | I |
| G/F | 0.9905 | likely_pathogenic | 0.9905 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/H | 0.9845 | likely_pathogenic | 0.9826 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| G/I | 0.9895 | likely_pathogenic | 0.9888 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/K | 0.9842 | likely_pathogenic | 0.9789 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/L | 0.9819 | likely_pathogenic | 0.9798 | pathogenic | -0.542 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/M | 0.9878 | likely_pathogenic | 0.9865 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/N | 0.9556 | likely_pathogenic | 0.9466 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/P | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/Q | 0.9686 | likely_pathogenic | 0.9609 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.91 | deleterious | None | None | None | None | I |
| G/R | 0.9618 | likely_pathogenic | 0.9525 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.912 | deleterious | D | 0.540972464 | None | None | I |
| G/S | 0.7244 | likely_pathogenic | 0.6904 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/T | 0.9298 | likely_pathogenic | 0.9195 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | I |
| G/V | 0.9759 | likely_pathogenic | 0.9746 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.879 | deleterious | D | 0.530883606 | None | None | I |
| G/W | 0.9742 | likely_pathogenic | 0.9742 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/Y | 0.9853 | likely_pathogenic | 0.9844 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.885 | 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.