Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28566 | 85921;85922;85923 | chr2:178560436;178560435;178560434 | chr2:179425163;179425162;179425161 |
| N2AB | 26925 | 80998;80999;81000 | chr2:178560436;178560435;178560434 | chr2:179425163;179425162;179425161 |
| N2A | 25998 | 78217;78218;78219 | chr2:178560436;178560435;178560434 | chr2:179425163;179425162;179425161 |
| N2B | 19501 | 58726;58727;58728 | chr2:178560436;178560435;178560434 | chr2:179425163;179425162;179425161 |
| Novex-1 | 19626 | 59101;59102;59103 | chr2:178560436;178560435;178560434 | chr2:179425163;179425162;179425161 |
| Novex-2 | 19693 | 59302;59303;59304 | chr2:178560436;178560435;178560434 | chr2:179425163;179425162;179425161 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | None | None | 0.78 | N | 0.681 | 0.2 | 0.266385636622 | gnomAD-4.0.0 | 6.84278E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99478E-07 | 0 | 0 |
| S/F | rs267599031  |
-0.981 | None | N | 0.441 | 0.176 | 0.288352970974 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| S/F | rs267599031 |
-0.981 | None | N | 0.441 | 0.176 | 0.288352970974 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/F | rs267599031 |
-0.981 | None | N | 0.441 | 0.176 | 0.288352970974 | gnomAD-4.0.0 | 1.17761E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.52573E-05 | 0 | 1.60159E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0785 | likely_benign | 0.0747 | benign | -0.478 | Destabilizing | None | N | 0.157 | neutral | N | 0.486014589 | None | None | N |
| S/C | 0.0801 | likely_benign | 0.0753 | benign | -0.81 | Destabilizing | 0.78 | D | 0.681 | prob.neutral | N | 0.49380295 | None | None | N |
| S/D | 0.5897 | likely_pathogenic | 0.5789 | pathogenic | -1.671 | Destabilizing | 0.262 | N | 0.619 | neutral | None | None | None | None | N |
| S/E | 0.6318 | likely_pathogenic | 0.6567 | pathogenic | -1.657 | Destabilizing | 0.149 | N | 0.579 | neutral | None | None | None | None | N |
| S/F | 0.1035 | likely_benign | 0.0844 | benign | -0.986 | Destabilizing | None | N | 0.441 | neutral | N | 0.49075153 | None | None | N |
| S/G | 0.1362 | likely_benign | 0.1249 | benign | -0.669 | Destabilizing | 0.035 | N | 0.478 | neutral | None | None | None | None | N |
| S/H | 0.2771 | likely_benign | 0.2676 | benign | -1.213 | Destabilizing | 0.555 | D | 0.687 | prob.neutral | None | None | None | None | N |
| S/I | 0.2377 | likely_benign | 0.2242 | benign | -0.077 | Destabilizing | 0.081 | N | 0.663 | neutral | None | None | None | None | N |
| S/K | 0.8143 | likely_pathogenic | 0.8296 | pathogenic | -0.637 | Destabilizing | 0.149 | N | 0.587 | neutral | None | None | None | None | N |
| S/L | 0.1723 | likely_benign | 0.1538 | benign | -0.077 | Destabilizing | 0.035 | N | 0.551 | neutral | None | None | None | None | N |
| S/M | 0.1552 | likely_benign | 0.1431 | benign | 0.225 | Stabilizing | 0.555 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/N | 0.165 | likely_benign | 0.146 | benign | -0.972 | Destabilizing | 0.262 | N | 0.609 | neutral | None | None | None | None | N |
| S/P | 0.9789 | likely_pathogenic | 0.9779 | pathogenic | -0.18 | Destabilizing | 0.484 | N | 0.731 | prob.delet. | D | 0.555103928 | None | None | N |
| S/Q | 0.5177 | ambiguous | 0.5214 | ambiguous | -1.263 | Destabilizing | 0.555 | D | 0.653 | neutral | None | None | None | None | N |
| S/R | 0.7874 | likely_pathogenic | 0.8088 | pathogenic | -0.421 | Destabilizing | 0.555 | D | 0.729 | prob.delet. | None | None | None | None | N |
| S/T | 0.0867 | likely_benign | 0.0814 | benign | -0.762 | Destabilizing | 0.052 | N | 0.513 | neutral | D | 0.522564831 | None | None | N |
| S/V | 0.2047 | likely_benign | 0.1934 | benign | -0.18 | Destabilizing | 0.081 | N | 0.595 | neutral | None | None | None | None | N |
| S/W | 0.3333 | likely_benign | 0.2825 | benign | -1.088 | Destabilizing | 0.824 | D | 0.703 | prob.neutral | None | None | None | None | N |
| S/Y | 0.1098 | likely_benign | 0.0957 | benign | -0.687 | Destabilizing | 0.188 | N | 0.717 | prob.delet. | N | 0.500435541 | 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.