Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32930 | 99013;99014;99015 | chr2:178539147;178539146;178539145 | chr2:179403874;179403873;179403872 |
| N2AB | 31289 | 94090;94091;94092 | chr2:178539147;178539146;178539145 | chr2:179403874;179403873;179403872 |
| N2A | 30362 | 91309;91310;91311 | chr2:178539147;178539146;178539145 | chr2:179403874;179403873;179403872 |
| N2B | 23865 | 71818;71819;71820 | chr2:178539147;178539146;178539145 | chr2:179403874;179403873;179403872 |
| Novex-1 | 23990 | 72193;72194;72195 | chr2:178539147;178539146;178539145 | chr2:179403874;179403873;179403872 |
| Novex-2 | 24057 | 72394;72395;72396 | chr2:178539147;178539146;178539145 | chr2:179403874;179403873;179403872 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/K | rs796822435  |
-0.737 | 1.0 | N | 0.823 | 0.421 | 0.444807159249 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/K | rs796822435 |
-0.737 | 1.0 | N | 0.823 | 0.421 | 0.444807159249 | gnomAD-4.0.0 | 1.5913E-06 | None | None | None | None | N | None | 0 | 2.28676E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1787 | likely_benign | 0.1542 | benign | -0.79 | Destabilizing | 0.999 | D | 0.539 | neutral | N | 0.474664148 | None | None | N |
| T/C | 0.6546 | likely_pathogenic | 0.5877 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| T/D | 0.8153 | likely_pathogenic | 0.7195 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| T/E | 0.7158 | likely_pathogenic | 0.604 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| T/F | 0.5523 | ambiguous | 0.4536 | ambiguous | -0.964 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| T/G | 0.509 | ambiguous | 0.4162 | ambiguous | -1.021 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | N |
| T/H | 0.5761 | likely_pathogenic | 0.4586 | ambiguous | -1.31 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| T/I | 0.2959 | likely_benign | 0.2622 | benign | -0.266 | Destabilizing | 1.0 | D | 0.827 | deleterious | N | 0.453144818 | None | None | N |
| T/K | 0.4523 | ambiguous | 0.3397 | benign | -0.775 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.487737394 | None | None | N |
| T/L | 0.1399 | likely_benign | 0.1243 | benign | -0.266 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/M | 0.1348 | likely_benign | 0.1102 | benign | 0.158 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| T/N | 0.2532 | likely_benign | 0.201 | benign | -0.78 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| T/P | 0.7004 | likely_pathogenic | 0.6325 | pathogenic | -0.41 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.497834513 | None | None | N |
| T/Q | 0.4717 | ambiguous | 0.3645 | ambiguous | -1.076 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| T/R | 0.4191 | ambiguous | 0.2999 | benign | -0.417 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.505227077 | None | None | N |
| T/S | 0.2224 | likely_benign | 0.1809 | benign | -0.989 | Destabilizing | 0.999 | D | 0.53 | neutral | N | 0.494394008 | None | None | N |
| T/V | 0.2289 | likely_benign | 0.2087 | benign | -0.41 | Destabilizing | 0.999 | D | 0.611 | neutral | None | None | None | None | N |
| T/W | 0.8804 | likely_pathogenic | 0.7896 | pathogenic | -0.884 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| T/Y | 0.6659 | likely_pathogenic | 0.5463 | ambiguous | -0.633 | Destabilizing | 1.0 | D | 0.836 | 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.