Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4637 | 14134;14135;14136 | chr2:178739324;178739323;178739322 | chr2:179604051;179604050;179604049 |
| N2AB | 4320 | 13183;13184;13185 | chr2:178739324;178739323;178739322 | chr2:179604051;179604050;179604049 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 4274 | 13045;13046;13047 | chr2:178739324;178739323;178739322 | chr2:179604051;179604050;179604049 |
| Novex-1 | 4399 | 13420;13421;13422 | chr2:178739324;178739323;178739322 | chr2:179604051;179604050;179604049 |
| Novex-2 | 4466 | 13621;13622;13623 | chr2:178739324;178739323;178739322 | chr2:179604051;179604050;179604049 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | D | 0.825 | 0.888 | None | gnomAD-4.0.0 | 1.59159E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85853E-06 | 0 | 0 |
| W/L | rs1362989287  |
-2.223 | 1.0 | D | 0.822 | 0.847 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| W/L | rs1362989287 |
-2.223 | 1.0 | D | 0.822 | 0.847 | None | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.3101E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/L | rs1362989287 |
-2.223 | 1.0 | D | 0.822 | 0.847 | None | gnomAD-4.0.0 | 3.84414E-06 | None | None | None | None | N | None | 0 | 5.08613E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9795 | likely_pathogenic | 0.9846 | pathogenic | -3.295 | Highly Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| W/C | 0.9725 | likely_pathogenic | 0.9809 | pathogenic | -1.993 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.730074973 | None | None | N |
| W/D | 0.9977 | likely_pathogenic | 0.9983 | pathogenic | -3.43 | Highly Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| W/E | 0.997 | likely_pathogenic | 0.998 | pathogenic | -3.319 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/F | 0.5014 | ambiguous | 0.5271 | ambiguous | -2.018 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| W/G | 0.931 | likely_pathogenic | 0.9477 | pathogenic | -3.535 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.700830784 | None | None | N |
| W/H | 0.9852 | likely_pathogenic | 0.9886 | pathogenic | -2.341 | Highly Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| W/I | 0.8784 | likely_pathogenic | 0.894 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| W/K | 0.9977 | likely_pathogenic | 0.9984 | pathogenic | -2.662 | Highly Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| W/L | 0.8247 | likely_pathogenic | 0.849 | pathogenic | -2.372 | Highly Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.730102595 | None | None | N |
| W/M | 0.9614 | likely_pathogenic | 0.9686 | pathogenic | -1.839 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| W/N | 0.9959 | likely_pathogenic | 0.9969 | pathogenic | -3.348 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| W/P | 0.9968 | likely_pathogenic | 0.9977 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| W/Q | 0.9975 | likely_pathogenic | 0.9984 | pathogenic | -3.197 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | None | None | None | None | N |
| W/R | 0.994 | likely_pathogenic | 0.9959 | pathogenic | -2.309 | Highly Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.730074973 | None | None | N |
| W/S | 0.9733 | likely_pathogenic | 0.9808 | pathogenic | -3.536 | Highly Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.730074973 | None | None | N |
| W/T | 0.9732 | likely_pathogenic | 0.9802 | pathogenic | -3.358 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| W/V | 0.8991 | likely_pathogenic | 0.9141 | pathogenic | -2.71 | Highly Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| W/Y | 0.7836 | likely_pathogenic | 0.8095 | pathogenic | -1.904 | Destabilizing | 1.0 | D | 0.803 | 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.