Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21115 | 63568;63569;63570 | chr2:178588064;178588063;178588062 | chr2:179452791;179452790;179452789 |
| N2AB | 19474 | 58645;58646;58647 | chr2:178588064;178588063;178588062 | chr2:179452791;179452790;179452789 |
| N2A | 18547 | 55864;55865;55866 | chr2:178588064;178588063;178588062 | chr2:179452791;179452790;179452789 |
| N2B | 12050 | 36373;36374;36375 | chr2:178588064;178588063;178588062 | chr2:179452791;179452790;179452789 |
| Novex-1 | 12175 | 36748;36749;36750 | chr2:178588064;178588063;178588062 | chr2:179452791;179452790;179452789 |
| Novex-2 | 12242 | 36949;36950;36951 | chr2:178588064;178588063;178588062 | chr2:179452791;179452790;179452789 |
| 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/R | None | None | 1.0 | N | 0.779 | 0.39 | 0.523650220922 | gnomAD-4.0.0 | 1.59294E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43345E-05 | 0 |
| G/S | rs1559556478  |
None | 1.0 | N | 0.598 | 0.378 | 0.296679040009 | gnomAD-4.0.0 | 4.77882E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 8.35189E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1739 | likely_benign | 0.1769 | benign | -0.434 | Destabilizing | 1.0 | D | 0.553 | neutral | N | 0.49362043 | None | None | N |
| G/C | 0.2838 | likely_benign | 0.2879 | benign | -0.606 | Destabilizing | 1.0 | D | 0.823 | deleterious | N | 0.490473771 | None | None | N |
| G/D | 0.2648 | likely_benign | 0.2429 | benign | -0.574 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | N | 0.458297135 | None | None | N |
| G/E | 0.2504 | likely_benign | 0.2313 | benign | -0.635 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| G/F | 0.5988 | likely_pathogenic | 0.6086 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| G/H | 0.4791 | ambiguous | 0.4621 | ambiguous | -0.989 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | N |
| G/I | 0.2778 | likely_benign | 0.2718 | benign | -0.132 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/K | 0.4381 | ambiguous | 0.4086 | ambiguous | -0.951 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| G/L | 0.4317 | ambiguous | 0.4292 | ambiguous | -0.132 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/M | 0.4794 | ambiguous | 0.483 | ambiguous | -0.22 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/N | 0.2918 | likely_benign | 0.2768 | benign | -0.61 | Destabilizing | 0.98 | D | 0.622 | neutral | None | None | None | None | N |
| G/P | 0.6104 | likely_pathogenic | 0.6123 | pathogenic | -0.191 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/Q | 0.3949 | ambiguous | 0.3844 | ambiguous | -0.751 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/R | 0.4198 | ambiguous | 0.3916 | ambiguous | -0.687 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.48038456 | None | None | N |
| G/S | 0.16 | likely_benign | 0.1586 | benign | -0.857 | Destabilizing | 1.0 | D | 0.598 | neutral | N | 0.471687719 | None | None | N |
| G/T | 0.18 | likely_benign | 0.1875 | benign | -0.831 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/V | 0.2 | likely_benign | 0.2 | benign | -0.191 | Destabilizing | 1.0 | D | 0.808 | deleterious | N | 0.496852736 | None | None | N |
| G/W | 0.5064 | ambiguous | 0.5036 | ambiguous | -1.153 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/Y | 0.4432 | ambiguous | 0.4354 | ambiguous | -0.703 | Destabilizing | 1.0 | D | 0.835 | 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.