Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20305 | 61138;61139;61140 | chr2:178590812;178590811;178590810 | chr2:179455539;179455538;179455537 |
| N2AB | 18664 | 56215;56216;56217 | chr2:178590812;178590811;178590810 | chr2:179455539;179455538;179455537 |
| N2A | 17737 | 53434;53435;53436 | chr2:178590812;178590811;178590810 | chr2:179455539;179455538;179455537 |
| N2B | 11240 | 33943;33944;33945 | chr2:178590812;178590811;178590810 | chr2:179455539;179455538;179455537 |
| Novex-1 | 11365 | 34318;34319;34320 | chr2:178590812;178590811;178590810 | chr2:179455539;179455538;179455537 |
| Novex-2 | 11432 | 34519;34520;34521 | chr2:178590812;178590811;178590810 | chr2:179455539;179455538;179455537 |
| 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 | rs750920394  |
0.472 | 1.0 | D | 0.891 | 0.494 | 0.909972638629 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| G/V | rs750920394 |
0.472 | 1.0 | D | 0.891 | 0.494 | 0.909972638629 | gnomAD-4.0.0 | 1.60877E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43732E-05 | 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 | 0.4959 | ambiguous | 0.5185 | ambiguous | -0.523 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.500583218 | None | None | N |
| G/C | 0.6866 | likely_pathogenic | 0.7206 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.524411919 | None | None | N |
| G/D | 0.9404 | likely_pathogenic | 0.952 | pathogenic | -1.53 | Destabilizing | 1.0 | D | 0.847 | deleterious | N | 0.509888835 | None | None | N |
| G/E | 0.9615 | likely_pathogenic | 0.9674 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/F | 0.9741 | likely_pathogenic | 0.9769 | pathogenic | -0.586 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.9191 | likely_pathogenic | 0.9367 | pathogenic | -1.6 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.9764 | likely_pathogenic | 0.9819 | pathogenic | 0.312 | Stabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/K | 0.9691 | likely_pathogenic | 0.9708 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/L | 0.9695 | likely_pathogenic | 0.9748 | pathogenic | 0.312 | Stabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/M | 0.973 | likely_pathogenic | 0.9775 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/N | 0.8698 | likely_pathogenic | 0.8758 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9996 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/Q | 0.9273 | likely_pathogenic | 0.9341 | pathogenic | -0.913 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/R | 0.8999 | likely_pathogenic | 0.906 | pathogenic | -1.019 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.498746339 | None | None | N |
| G/S | 0.3903 | ambiguous | 0.4252 | ambiguous | -1.272 | Destabilizing | 1.0 | D | 0.668 | neutral | N | 0.480210784 | None | None | N |
| G/T | 0.8621 | likely_pathogenic | 0.8905 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/V | 0.9417 | likely_pathogenic | 0.956 | pathogenic | 0.078 | Stabilizing | 1.0 | D | 0.891 | deleterious | D | 0.549642517 | None | None | N |
| G/W | 0.9419 | likely_pathogenic | 0.9553 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/Y | 0.9327 | likely_pathogenic | 0.9443 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.849 | 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.