Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21152 | 63679;63680;63681 | chr2:178587953;178587952;178587951 | chr2:179452680;179452679;179452678 |
| N2AB | 19511 | 58756;58757;58758 | chr2:178587953;178587952;178587951 | chr2:179452680;179452679;179452678 |
| N2A | 18584 | 55975;55976;55977 | chr2:178587953;178587952;178587951 | chr2:179452680;179452679;179452678 |
| N2B | 12087 | 36484;36485;36486 | chr2:178587953;178587952;178587951 | chr2:179452680;179452679;179452678 |
| Novex-1 | 12212 | 36859;36860;36861 | chr2:178587953;178587952;178587951 | chr2:179452680;179452679;179452678 |
| Novex-2 | 12279 | 37060;37061;37062 | chr2:178587953;178587952;178587951 | chr2:179452680;179452679;179452678 |
| 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/V | None | None | 1.0 | D | 0.875 | 0.671 | 0.920578825228 | gnomAD-4.0.0 | 2.0573E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.98273E-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 | 0.8391 | likely_pathogenic | 0.8602 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.514981397 | None | None | I |
| G/C | 0.9283 | likely_pathogenic | 0.9414 | pathogenic | -0.952 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.553849707 | None | None | I |
| G/D | 0.9625 | likely_pathogenic | 0.966 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.525577234 | None | None | I |
| G/E | 0.9793 | likely_pathogenic | 0.9816 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | I |
| G/F | 0.9911 | likely_pathogenic | 0.9925 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/H | 0.9897 | likely_pathogenic | 0.9916 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/I | 0.9853 | likely_pathogenic | 0.9879 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/K | 0.988 | likely_pathogenic | 0.9902 | pathogenic | -1.29 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/L | 0.9844 | likely_pathogenic | 0.9865 | pathogenic | -0.528 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/M | 0.9892 | likely_pathogenic | 0.9916 | pathogenic | -0.474 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/N | 0.9732 | likely_pathogenic | 0.9769 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.998 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/Q | 0.9802 | likely_pathogenic | 0.9842 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/R | 0.9718 | likely_pathogenic | 0.976 | pathogenic | -0.797 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.540972464 | None | None | I |
| G/S | 0.7844 | likely_pathogenic | 0.8002 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.529616159 | None | None | I |
| G/T | 0.9445 | likely_pathogenic | 0.9533 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/V | 0.974 | likely_pathogenic | 0.9794 | pathogenic | -0.522 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.553596217 | None | None | I |
| G/W | 0.9799 | likely_pathogenic | 0.9831 | pathogenic | -1.316 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/Y | 0.9856 | likely_pathogenic | 0.9883 | pathogenic | -0.975 | Destabilizing | 1.0 | D | 0.879 | 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.