Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25272 | 76039;76040;76041 | chr2:178570318;178570317;178570316 | chr2:179435045;179435044;179435043 |
| N2AB | 23631 | 71116;71117;71118 | chr2:178570318;178570317;178570316 | chr2:179435045;179435044;179435043 |
| N2A | 22704 | 68335;68336;68337 | chr2:178570318;178570317;178570316 | chr2:179435045;179435044;179435043 |
| N2B | 16207 | 48844;48845;48846 | chr2:178570318;178570317;178570316 | chr2:179435045;179435044;179435043 |
| Novex-1 | 16332 | 49219;49220;49221 | chr2:178570318;178570317;178570316 | chr2:179435045;179435044;179435043 |
| Novex-2 | 16399 | 49420;49421;49422 | chr2:178570318;178570317;178570316 | chr2:179435045;179435044;179435043 |
| 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/S | rs377704090  |
-1.056 | 1.0 | N | 0.789 | 0.568 | None | gnomAD-2.1.1 | 7.17E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| G/S | rs377704090 |
-1.056 | 1.0 | N | 0.789 | 0.568 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs377704090 |
-1.056 | 1.0 | N | 0.789 | 0.568 | None | gnomAD-4.0.0 | 4.06007E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.81988E-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 | 0.5288 | ambiguous | 0.5778 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.497940326 | None | None | N |
| G/C | 0.581 | likely_pathogenic | 0.6339 | pathogenic | -0.873 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.551647661 | None | None | N |
| G/D | 0.332 | likely_benign | 0.3977 | ambiguous | -0.944 | Destabilizing | 1.0 | D | 0.806 | deleterious | N | 0.475859598 | None | None | N |
| G/E | 0.5914 | likely_pathogenic | 0.6453 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/F | 0.8925 | likely_pathogenic | 0.9217 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/H | 0.6856 | likely_pathogenic | 0.7549 | pathogenic | -0.793 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/I | 0.9145 | likely_pathogenic | 0.9286 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/K | 0.7882 | likely_pathogenic | 0.8302 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/L | 0.8823 | likely_pathogenic | 0.9092 | pathogenic | -0.524 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/M | 0.8619 | likely_pathogenic | 0.8927 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/N | 0.2774 | likely_benign | 0.3433 | ambiguous | -0.68 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/P | 0.9934 | likely_pathogenic | 0.9951 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/Q | 0.6953 | likely_pathogenic | 0.7335 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/R | 0.7375 | likely_pathogenic | 0.7757 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.523882167 | None | None | N |
| G/S | 0.2443 | likely_benign | 0.2793 | benign | -0.814 | Destabilizing | 1.0 | D | 0.789 | deleterious | N | 0.505155575 | None | None | N |
| G/T | 0.5866 | likely_pathogenic | 0.6498 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/V | 0.8376 | likely_pathogenic | 0.8584 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.539619792 | None | None | N |
| G/W | 0.7868 | likely_pathogenic | 0.8221 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Y | 0.7327 | likely_pathogenic | 0.7959 | pathogenic | -0.972 | Destabilizing | 1.0 | D | 0.791 | 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.