Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31490 | 94693;94694;94695 | chr2:178547057;178547056;178547055 | chr2:179411784;179411783;179411782 |
| N2AB | 29849 | 89770;89771;89772 | chr2:178547057;178547056;178547055 | chr2:179411784;179411783;179411782 |
| N2A | 28922 | 86989;86990;86991 | chr2:178547057;178547056;178547055 | chr2:179411784;179411783;179411782 |
| N2B | 22425 | 67498;67499;67500 | chr2:178547057;178547056;178547055 | chr2:179411784;179411783;179411782 |
| Novex-1 | 22550 | 67873;67874;67875 | chr2:178547057;178547056;178547055 | chr2:179411784;179411783;179411782 |
| Novex-2 | 22617 | 68074;68075;68076 | chr2:178547057;178547056;178547055 | chr2:179411784;179411783;179411782 |
| 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/D | None | None | 1.0 | D | 0.899 | 0.671 | 0.563836457519 | gnomAD-4.0.0 | 2.05278E-06 | None | None | None | None | I | None | 2.98829E-05 | 0 | None | 0 | 5.03829E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | None | None | 1.0 | D | 0.898 | 0.664 | 0.847646856092 | 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 | 0.8931 | likely_pathogenic | 0.887 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.56139194 | None | None | I |
| G/C | 0.9688 | likely_pathogenic | 0.9682 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.855 | deleterious | D | 0.562659388 | None | None | I |
| G/D | 0.9836 | likely_pathogenic | 0.9831 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.899 | deleterious | D | 0.538007766 | None | None | I |
| G/E | 0.9902 | likely_pathogenic | 0.9892 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/F | 0.9963 | likely_pathogenic | 0.9963 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/H | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -1.0 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/I | 0.9961 | likely_pathogenic | 0.996 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/K | 0.9945 | likely_pathogenic | 0.9938 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/L | 0.9935 | likely_pathogenic | 0.9924 | pathogenic | -0.59 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/M | 0.9953 | likely_pathogenic | 0.9946 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/N | 0.9843 | likely_pathogenic | 0.9824 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9993 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/Q | 0.9887 | likely_pathogenic | 0.9874 | pathogenic | -1.135 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/R | 0.9828 | likely_pathogenic | 0.9825 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.898 | deleterious | D | 0.543541175 | None | None | I |
| G/S | 0.8196 | likely_pathogenic | 0.808 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.549528656 | None | None | I |
| G/T | 0.9733 | likely_pathogenic | 0.9693 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | I |
| G/V | 0.989 | likely_pathogenic | 0.9889 | pathogenic | -0.575 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.532438359 | None | None | I |
| G/W | 0.9939 | likely_pathogenic | 0.9939 | pathogenic | -1.397 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/Y | 0.9942 | likely_pathogenic | 0.9936 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.876 | 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.