Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9044 | 27355;27356;27357 | chr2:178712895;178712894;178712893 | chr2:179577622;179577621;179577620 |
| N2AB | 8727 | 26404;26405;26406 | chr2:178712895;178712894;178712893 | chr2:179577622;179577621;179577620 |
| N2A | 7800 | 23623;23624;23625 | chr2:178712895;178712894;178712893 | chr2:179577622;179577621;179577620 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs1417836268  |
None | 1.0 | D | 0.791 | 0.828 | 0.690045052197 | gnomAD-4.0.0 | 6.84395E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9959E-07 | 0 | 0 |
| G/R | rs762328648 |
-0.517 | 1.0 | D | 0.792 | 0.874 | 0.771210160339 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 0 |
| G/R | rs762328648 |
-0.517 | 1.0 | D | 0.792 | 0.874 | 0.771210160339 | gnomAD-4.0.0 | 4.79077E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.29706E-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 | 0.7176 | likely_pathogenic | 0.787 | pathogenic | -0.303 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.569501233 | None | None | I |
| G/C | 0.9586 | likely_pathogenic | 0.975 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| G/D | 0.9773 | likely_pathogenic | 0.9862 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | I |
| G/E | 0.9815 | likely_pathogenic | 0.9903 | pathogenic | -0.619 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.621113225 | None | None | I |
| G/F | 0.9926 | likely_pathogenic | 0.9962 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/H | 0.9972 | likely_pathogenic | 0.9985 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/I | 0.9791 | likely_pathogenic | 0.9911 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| G/K | 0.9965 | likely_pathogenic | 0.9982 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/L | 0.9877 | likely_pathogenic | 0.9941 | pathogenic | -0.22 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/M | 0.9908 | likely_pathogenic | 0.9957 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | I |
| G/N | 0.9887 | likely_pathogenic | 0.9942 | pathogenic | -0.605 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/P | 0.9976 | likely_pathogenic | 0.9988 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Q | 0.9945 | likely_pathogenic | 0.9972 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/R | 0.992 | likely_pathogenic | 0.9955 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.792 | deleterious | D | 0.661892046 | None | None | I |
| G/S | 0.8377 | likely_pathogenic | 0.8955 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/T | 0.9638 | likely_pathogenic | 0.9808 | pathogenic | -0.819 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/V | 0.9501 | likely_pathogenic | 0.9759 | pathogenic | -0.211 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.661892046 | None | None | I |
| G/W | 0.9852 | likely_pathogenic | 0.9921 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| G/Y | 0.9895 | likely_pathogenic | 0.9943 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | 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.