Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20374 | 61345;61346;61347 | chr2:178590605;178590604;178590603 | chr2:179455332;179455331;179455330 |
| N2AB | 18733 | 56422;56423;56424 | chr2:178590605;178590604;178590603 | chr2:179455332;179455331;179455330 |
| N2A | 17806 | 53641;53642;53643 | chr2:178590605;178590604;178590603 | chr2:179455332;179455331;179455330 |
| N2B | 11309 | 34150;34151;34152 | chr2:178590605;178590604;178590603 | chr2:179455332;179455331;179455330 |
| Novex-1 | 11434 | 34525;34526;34527 | chr2:178590605;178590604;178590603 | chr2:179455332;179455331;179455330 |
| Novex-2 | 11501 | 34726;34727;34728 | chr2:178590605;178590604;178590603 | chr2:179455332;179455331;179455330 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs372969669  |
-0.855 | 1.0 | N | 0.909 | 0.389 | None | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | I | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/L | rs372969669 |
-0.855 | 1.0 | N | 0.909 | 0.389 | None | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs372969669 |
-0.855 | 1.0 | N | 0.909 | 0.389 | None | gnomAD-4.0.0 | 1.31551E-05 | None | None | None | None | I | None | 4.82928E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1353471700 |
-1.934 | 1.0 | N | 0.873 | 0.334 | 0.437850553699 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.49E-05 | 0 |
| P/S | rs1353471700 |
-1.934 | 1.0 | N | 0.873 | 0.334 | 0.437850553699 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| P/S | rs1353471700 |
-1.934 | 1.0 | N | 0.873 | 0.334 | 0.437850553699 | gnomAD-4.0.0 | 2.56508E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.57001E-05 | 0 | 2.39543E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1861 | likely_benign | 0.1348 | benign | -1.733 | Destabilizing | 1.0 | D | 0.857 | deleterious | N | 0.483363364 | None | None | I |
| P/C | 0.7634 | likely_pathogenic | 0.7098 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| P/D | 0.9582 | likely_pathogenic | 0.9258 | pathogenic | -2.096 | Highly Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| P/E | 0.8513 | likely_pathogenic | 0.7584 | pathogenic | -2.085 | Highly Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| P/F | 0.8676 | likely_pathogenic | 0.7993 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| P/G | 0.7835 | likely_pathogenic | 0.6717 | pathogenic | -2.06 | Highly Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| P/H | 0.719 | likely_pathogenic | 0.5814 | pathogenic | -1.623 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| P/I | 0.7427 | likely_pathogenic | 0.6677 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| P/K | 0.846 | likely_pathogenic | 0.7439 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| P/L | 0.5165 | ambiguous | 0.3365 | benign | -0.912 | Destabilizing | 1.0 | D | 0.909 | deleterious | N | 0.51015187 | None | None | I |
| P/M | 0.7192 | likely_pathogenic | 0.6393 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| P/N | 0.8859 | likely_pathogenic | 0.814 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | I |
| P/Q | 0.619 | likely_pathogenic | 0.4668 | ambiguous | -1.473 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.490273188 | None | None | I |
| P/R | 0.7531 | likely_pathogenic | 0.6173 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.911 | deleterious | N | 0.486007227 | None | None | I |
| P/S | 0.4784 | ambiguous | 0.3267 | benign | -1.73 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.470105018 | None | None | I |
| P/T | 0.5484 | ambiguous | 0.4067 | ambiguous | -1.623 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.509644891 | None | None | I |
| P/V | 0.608 | likely_pathogenic | 0.5295 | ambiguous | -1.154 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | I |
| P/W | 0.9584 | likely_pathogenic | 0.9239 | pathogenic | -1.539 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| P/Y | 0.8922 | likely_pathogenic | 0.8231 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | I |
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.