Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24506 | 73741;73742;73743 | chr2:178572616;178572615;178572614 | chr2:179437343;179437342;179437341 |
| N2AB | 22865 | 68818;68819;68820 | chr2:178572616;178572615;178572614 | chr2:179437343;179437342;179437341 |
| N2A | 21938 | 66037;66038;66039 | chr2:178572616;178572615;178572614 | chr2:179437343;179437342;179437341 |
| N2B | 15441 | 46546;46547;46548 | chr2:178572616;178572615;178572614 | chr2:179437343;179437342;179437341 |
| Novex-1 | 15566 | 46921;46922;46923 | chr2:178572616;178572615;178572614 | chr2:179437343;179437342;179437341 |
| Novex-2 | 15633 | 47122;47123;47124 | chr2:178572616;178572615;178572614 | chr2:179437343;179437342;179437341 |
| 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 | rs567446185  |
-0.053 | 1.0 | D | 0.89 | 0.724 | 0.599588325989 | gnomAD-2.1.1 | 1.39602E-04 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.85452E-03 | None | 6.55E-05 | None | 0 | 0 | 1.40924E-04 |
| G/D | rs567446185 |
-0.053 | 1.0 | D | 0.89 | 0.724 | 0.599588325989 | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.35606E-03 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs567446185 |
-0.053 | 1.0 | D | 0.89 | 0.724 | 0.599588325989 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| G/D | rs567446185 |
-0.053 | 1.0 | D | 0.89 | 0.724 | 0.599588325989 | gnomAD-4.0.0 | 3.40928E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 9.15465E-04 | None | 0 | 0 | 0 | 4.39551E-05 | 1.60097E-04 |
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 | 0.7203 | likely_pathogenic | 0.7225 | pathogenic | -0.121 | Destabilizing | 1.0 | D | 0.752 | deleterious | D | 0.631714231 | None | None | I |
| G/C | 0.8778 | likely_pathogenic | 0.8764 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.632925057 | None | None | I |
| G/D | 0.9456 | likely_pathogenic | 0.9451 | pathogenic | -0.393 | Destabilizing | 1.0 | D | 0.89 | deleterious | D | 0.605772511 | None | None | I |
| G/E | 0.9579 | likely_pathogenic | 0.9588 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/F | 0.9847 | likely_pathogenic | 0.9852 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/H | 0.9734 | likely_pathogenic | 0.9731 | pathogenic | -0.345 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/I | 0.9796 | likely_pathogenic | 0.9798 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/K | 0.969 | likely_pathogenic | 0.9706 | pathogenic | -0.4 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/L | 0.9717 | likely_pathogenic | 0.9733 | pathogenic | -0.395 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/M | 0.9828 | likely_pathogenic | 0.9819 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/N | 0.9385 | likely_pathogenic | 0.9351 | pathogenic | -0.174 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9986 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| G/Q | 0.9432 | likely_pathogenic | 0.9422 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.902 | deleterious | None | None | None | None | I |
| G/R | 0.9295 | likely_pathogenic | 0.9305 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.904 | deleterious | D | 0.631916035 | None | None | I |
| G/S | 0.608 | likely_pathogenic | 0.601 | pathogenic | -0.287 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.615089457 | None | None | I |
| G/T | 0.9122 | likely_pathogenic | 0.9104 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | I |
| G/V | 0.9572 | likely_pathogenic | 0.9565 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.632521448 | None | None | I |
| G/W | 0.984 | likely_pathogenic | 0.9836 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/Y | 0.979 | likely_pathogenic | 0.9798 | pathogenic | -0.74 | Destabilizing | 1.0 | D | 0.88 | 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.