Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33617 | 101074;101075;101076 | chr2:178535766;178535765;178535764 | chr2:179400493;179400492;179400491 |
| N2AB | 31976 | 96151;96152;96153 | chr2:178535766;178535765;178535764 | chr2:179400493;179400492;179400491 |
| N2A | 31049 | 93370;93371;93372 | chr2:178535766;178535765;178535764 | chr2:179400493;179400492;179400491 |
| N2B | 24552 | 73879;73880;73881 | chr2:178535766;178535765;178535764 | chr2:179400493;179400492;179400491 |
| Novex-1 | 24677 | 74254;74255;74256 | chr2:178535766;178535765;178535764 | chr2:179400493;179400492;179400491 |
| Novex-2 | 24744 | 74455;74456;74457 | chr2:178535766;178535765;178535764 | chr2:179400493;179400492;179400491 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1395817779  |
-2.993 | 1.0 | N | 0.807 | 0.545 | 0.550545596621 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| I/T | rs1395817779 |
-2.993 | 1.0 | N | 0.807 | 0.545 | 0.550545596621 | gnomAD-4.0.0 | 5.47448E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79897E-06 | 5.79683E-05 | 1.65673E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.9921 | likely_pathogenic | 0.979 | pathogenic | -2.378 | Highly Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| I/C | 0.9914 | likely_pathogenic | 0.9784 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| I/D | 0.9996 | likely_pathogenic | 0.9991 | pathogenic | -2.413 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| I/E | 0.9988 | likely_pathogenic | 0.9968 | pathogenic | -2.239 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| I/F | 0.8749 | likely_pathogenic | 0.7269 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.466314404 | None | None | N |
| I/G | 0.9989 | likely_pathogenic | 0.9965 | pathogenic | -2.85 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| I/H | 0.9985 | likely_pathogenic | 0.9956 | pathogenic | -1.99 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| I/K | 0.9982 | likely_pathogenic | 0.9946 | pathogenic | -1.979 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| I/L | 0.5647 | likely_pathogenic | 0.4254 | ambiguous | -1.047 | Destabilizing | 0.983 | D | 0.487 | neutral | N | 0.458552497 | None | None | N |
| I/M | 0.6535 | likely_pathogenic | 0.4484 | ambiguous | -0.899 | Destabilizing | 1.0 | D | 0.798 | deleterious | N | 0.477924199 | None | None | N |
| I/N | 0.9936 | likely_pathogenic | 0.9832 | pathogenic | -2.189 | Highly Destabilizing | 1.0 | D | 0.896 | deleterious | N | 0.478177689 | None | None | N |
| I/P | 0.999 | likely_pathogenic | 0.998 | pathogenic | -1.469 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| I/Q | 0.9979 | likely_pathogenic | 0.9937 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| I/R | 0.9976 | likely_pathogenic | 0.993 | pathogenic | -1.527 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| I/S | 0.9932 | likely_pathogenic | 0.9814 | pathogenic | -2.847 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | N | 0.47767071 | None | None | N |
| I/T | 0.9901 | likely_pathogenic | 0.9756 | pathogenic | -2.531 | Highly Destabilizing | 1.0 | D | 0.807 | deleterious | N | 0.477163731 | None | None | N |
| I/V | 0.3161 | likely_benign | 0.2563 | benign | -1.469 | Destabilizing | 0.987 | D | 0.435 | neutral | N | 0.464478454 | None | None | N |
| I/W | 0.9982 | likely_pathogenic | 0.9949 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| I/Y | 0.9875 | likely_pathogenic | 0.967 | pathogenic | -1.437 | Destabilizing | 1.0 | D | 0.822 | 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.