Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15923 | 47992;47993;47994 | chr2:178617228;178617227;178617226 | chr2:179481955;179481954;179481953 |
| N2AB | 14282 | 43069;43070;43071 | chr2:178617228;178617227;178617226 | chr2:179481955;179481954;179481953 |
| N2A | 13355 | 40288;40289;40290 | chr2:178617228;178617227;178617226 | chr2:179481955;179481954;179481953 |
| N2B | 6858 | 20797;20798;20799 | chr2:178617228;178617227;178617226 | chr2:179481955;179481954;179481953 |
| Novex-1 | 6983 | 21172;21173;21174 | chr2:178617228;178617227;178617226 | chr2:179481955;179481954;179481953 |
| Novex-2 | 7050 | 21373;21374;21375 | chr2:178617228;178617227;178617226 | chr2:179481955;179481954;179481953 |
| 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/E | rs763457943  |
-0.082 | 0.777 | N | 0.48 | 0.402 | 0.276482976112 | gnomAD-2.1.1 | 1.24E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.69E-05 | None | 0 | 0 | 0 |
| G/E | rs763457943 |
-0.082 | 0.777 | N | 0.48 | 0.402 | 0.276482976112 | gnomAD-4.0.0 | 3.55191E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.34907E-05 | 0 |
| G/R | rs371943746 |
-0.053 | 1.0 | D | 0.747 | 0.395 | 0.414150184683 | gnomAD-2.1.1 | 1.79236E-04 | None | None | None | None | N | None | 9.39227E-04 | 1.75316E-04 | None | 0 | 8.15E-05 | None | 0 | None | 0 | 1.47362E-04 | 0 |
| G/R | rs371943746 |
-0.053 | 1.0 | D | 0.747 | 0.395 | 0.414150184683 | gnomAD-3.1.2 | 4.28291E-04 | None | None | None | None | N | None | 9.67118E-04 | 1.97057E-04 | 1.09649E-02 | 0 | 1.94856E-04 | None | 9.46E-05 | 0 | 1.32606E-04 | 0 | 4.78927E-04 |
| G/R | rs371943746 |
-0.053 | 1.0 | D | 0.747 | 0.395 | 0.414150184683 | gnomAD-4.0.0 | 1.14647E-04 | None | None | None | None | N | None | 8.20744E-04 | 1.67863E-04 | None | 0 | 2.40662E-05 | None | 1.6456E-05 | 1.69205E-04 | 7.23915E-05 | 2.48231E-05 | 2.00743E-04 |
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 | 0.2542 | likely_benign | 0.2866 | benign | -0.221 | Destabilizing | 0.995 | D | 0.585 | neutral | D | 0.597245329 | None | None | N |
| G/C | 0.3922 | ambiguous | 0.4293 | ambiguous | -0.885 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/D | 0.2442 | likely_benign | 0.2693 | benign | -0.209 | Destabilizing | 0.998 | D | 0.711 | prob.delet. | None | None | None | None | N |
| G/E | 0.3861 | ambiguous | 0.4228 | ambiguous | -0.356 | Destabilizing | 0.777 | D | 0.48 | neutral | N | 0.449797439 | None | None | N |
| G/F | 0.7991 | likely_pathogenic | 0.8332 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| G/H | 0.5168 | ambiguous | 0.5775 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/I | 0.7164 | likely_pathogenic | 0.752 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.5568 | ambiguous | 0.6135 | pathogenic | -0.655 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| G/L | 0.7043 | likely_pathogenic | 0.7585 | pathogenic | -0.315 | Destabilizing | 0.999 | D | 0.748 | deleterious | None | None | None | None | N |
| G/M | 0.7169 | likely_pathogenic | 0.7665 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/N | 0.3004 | likely_benign | 0.3638 | ambiguous | -0.335 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| G/P | 0.9417 | likely_pathogenic | 0.9517 | pathogenic | -0.25 | Destabilizing | 0.999 | D | 0.745 | deleterious | None | None | None | None | N |
| G/Q | 0.4789 | ambiguous | 0.539 | ambiguous | -0.565 | Destabilizing | 0.998 | D | 0.749 | deleterious | None | None | None | None | N |
| G/R | 0.465 | ambiguous | 0.502 | ambiguous | -0.299 | Destabilizing | 1.0 | D | 0.747 | deleterious | D | 0.542146401 | None | None | N |
| G/S | 0.1587 | likely_benign | 0.184 | benign | -0.541 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | N |
| G/T | 0.3502 | ambiguous | 0.419 | ambiguous | -0.603 | Destabilizing | 0.999 | D | 0.71 | prob.delet. | None | None | None | None | N |
| G/V | 0.5568 | ambiguous | 0.6026 | pathogenic | -0.25 | Destabilizing | 0.999 | D | 0.742 | deleterious | D | 0.719680724 | None | None | N |
| G/W | 0.6747 | likely_pathogenic | 0.687 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/Y | 0.6505 | likely_pathogenic | 0.6909 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.792 | 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.