Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35978 | 108157;108158;108159 | chr2:178527056;178527055;178527054 | chr2:179391783;179391782;179391781 |
| N2AB | 34337 | 103234;103235;103236 | chr2:178527056;178527055;178527054 | chr2:179391783;179391782;179391781 |
| N2A | 33410 | 100453;100454;100455 | chr2:178527056;178527055;178527054 | chr2:179391783;179391782;179391781 |
| N2B | 26913 | 80962;80963;80964 | chr2:178527056;178527055;178527054 | chr2:179391783;179391782;179391781 |
| Novex-1 | 27038 | 81337;81338;81339 | chr2:178527056;178527055;178527054 | chr2:179391783;179391782;179391781 |
| Novex-2 | 27105 | 81538;81539;81540 | chr2:178527056;178527055;178527054 | chr2:179391783;179391782;179391781 |
| 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 | 0.835 | 0.571 | 0.925565434573 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | -0.948(OBSL1) -0.769(OBSCN) | N | 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 | 0.7226 | likely_pathogenic | 0.7639 | pathogenic | -0.332 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | D | 0.571583586 | None | -0.748(OBSL1) -0.636(OBSCN) | N |
| G/C | 0.8791 | likely_pathogenic | 0.8865 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | -0.837(OBSL1) -0.488(OBSCN) | N |
| G/D | 0.9058 | likely_pathogenic | 0.9214 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | -1.265(OBSL1) -0.962(OBSCN) | N |
| G/E | 0.9284 | likely_pathogenic | 0.9422 | pathogenic | -0.804 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.557199475 | None | -1.427(OBSL1) -1.104(OBSCN) | N |
| G/F | 0.9814 | likely_pathogenic | 0.9838 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | -0.415(OBSL1) -0.125(OBSCN) | N |
| G/H | 0.9631 | likely_pathogenic | 0.9668 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | -0.422(OBSL1) -0.172(OBSCN) | N |
| G/I | 0.9681 | likely_pathogenic | 0.9745 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | -1.055(OBSL1) -0.843(OBSCN) | N |
| G/K | 0.972 | likely_pathogenic | 0.9757 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | -1.564(OBSL1) -1.151(OBSCN) | N |
| G/L | 0.9695 | likely_pathogenic | 0.9746 | pathogenic | -0.509 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | -1.055(OBSL1) -0.843(OBSCN) | N |
| G/M | 0.9865 | likely_pathogenic | 0.9891 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | -0.799(OBSL1) -0.572(OBSCN) | N |
| G/N | 0.9477 | likely_pathogenic | 0.9518 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | -1.088(OBSL1) -0.777(OBSCN) | N |
| G/P | 0.9962 | likely_pathogenic | 0.997 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | -0.948(OBSL1) -0.769(OBSCN) | N |
| G/Q | 0.9338 | likely_pathogenic | 0.9435 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | -1.142(OBSL1) -0.796(OBSCN) | N |
| G/R | 0.8955 | likely_pathogenic | 0.9105 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.634469847 | None | -1.794(OBSL1) -1.458(OBSCN) | N |
| G/S | 0.5861 | likely_pathogenic | 0.6067 | pathogenic | -0.631 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | -0.724(OBSL1) -0.43(OBSCN) | N |
| G/T | 0.9069 | likely_pathogenic | 0.9211 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | -0.878(OBSL1) -0.552(OBSCN) | N |
| G/V | 0.9409 | likely_pathogenic | 0.9531 | pathogenic | -0.419 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.619055898 | None | -0.948(OBSL1) -0.769(OBSCN) | N |
| G/W | 0.9659 | likely_pathogenic | 0.9715 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | -0.446(OBSL1) -0.11(OBSCN) | N |
| G/Y | 0.9711 | likely_pathogenic | 0.9749 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | -0.381(OBSL1) -0.069(OBSCN) | 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.