Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33032 | 99319;99320;99321 | chr2:178538735;178538734;178538733 | chr2:179403462;179403461;179403460 |
| N2AB | 31391 | 94396;94397;94398 | chr2:178538735;178538734;178538733 | chr2:179403462;179403461;179403460 |
| N2A | 30464 | 91615;91616;91617 | chr2:178538735;178538734;178538733 | chr2:179403462;179403461;179403460 |
| N2B | 23967 | 72124;72125;72126 | chr2:178538735;178538734;178538733 | chr2:179403462;179403461;179403460 |
| Novex-1 | 24092 | 72499;72500;72501 | chr2:178538735;178538734;178538733 | chr2:179403462;179403461;179403460 |
| Novex-2 | 24159 | 72700;72701;72702 | chr2:178538735;178538734;178538733 | chr2:179403462;179403461;179403460 |
| 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 | rs1247520055  |
-1.945 | 1.0 | N | 0.898 | 0.528 | 0.548949488234 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.1489E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/E | rs1247520055 |
-1.945 | 1.0 | N | 0.898 | 0.528 | 0.548949488234 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1247520055 |
-1.945 | 1.0 | N | 0.898 | 0.528 | 0.548949488234 | gnomAD-4.0.0 | 6.57358E-06 | None | None | None | None | N | None | 2.41406E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7116 | likely_pathogenic | 0.7244 | pathogenic | -0.559 | Destabilizing | 1.0 | D | 0.604 | neutral | N | 0.513091612 | None | None | N |
| G/C | 0.9188 | likely_pathogenic | 0.9216 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| G/D | 0.9841 | likely_pathogenic | 0.9806 | pathogenic | -1.57 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/E | 0.9916 | likely_pathogenic | 0.9884 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.898 | deleterious | N | 0.492340784 | None | None | N |
| G/F | 0.9947 | likely_pathogenic | 0.9948 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/H | 0.9923 | likely_pathogenic | 0.9922 | pathogenic | -1.629 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/I | 0.9967 | likely_pathogenic | 0.9963 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| G/K | 0.9982 | likely_pathogenic | 0.9978 | pathogenic | -1.056 | Destabilizing | 1.0 | D | 0.898 | deleterious | None | None | None | None | N |
| G/L | 0.9945 | likely_pathogenic | 0.9941 | pathogenic | 0.357 | Stabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/M | 0.9974 | likely_pathogenic | 0.9972 | pathogenic | 0.273 | Stabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/N | 0.9837 | likely_pathogenic | 0.9805 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| G/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/Q | 0.9927 | likely_pathogenic | 0.9909 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| G/R | 0.991 | likely_pathogenic | 0.9893 | pathogenic | -1.082 | Destabilizing | 1.0 | D | 0.885 | deleterious | N | 0.502860942 | None | None | N |
| G/S | 0.732 | likely_pathogenic | 0.7214 | pathogenic | -1.347 | Destabilizing | 1.0 | D | 0.658 | neutral | None | None | None | None | N |
| G/T | 0.9772 | likely_pathogenic | 0.9744 | pathogenic | -1.133 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| G/V | 0.9892 | likely_pathogenic | 0.9882 | pathogenic | 0.095 | Stabilizing | 1.0 | D | 0.897 | deleterious | N | 0.520181956 | None | None | N |
| G/W | 0.9876 | likely_pathogenic | 0.9873 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | N |
| G/Y | 0.9868 | likely_pathogenic | 0.9878 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.86 | 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.