Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20551 | 61876;61877;61878 | chr2:178590074;178590073;178590072 | chr2:179454801;179454800;179454799 |
| N2AB | 18910 | 56953;56954;56955 | chr2:178590074;178590073;178590072 | chr2:179454801;179454800;179454799 |
| N2A | 17983 | 54172;54173;54174 | chr2:178590074;178590073;178590072 | chr2:179454801;179454800;179454799 |
| N2B | 11486 | 34681;34682;34683 | chr2:178590074;178590073;178590072 | chr2:179454801;179454800;179454799 |
| Novex-1 | 11611 | 35056;35057;35058 | chr2:178590074;178590073;178590072 | chr2:179454801;179454800;179454799 |
| Novex-2 | 11678 | 35257;35258;35259 | chr2:178590074;178590073;178590072 | chr2:179454801;179454800;179454799 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs765205726  |
-0.577 | 1.0 | D | 0.843 | 0.692 | 0.748375124449 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.61E-05 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs765205726 |
-0.577 | 1.0 | D | 0.843 | 0.692 | 0.748375124449 | gnomAD-4.0.0 | 3.1853E-06 | None | None | None | None | N | None | 5.66444E-05 | 0 | None | 0 | 2.78056E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 1.0 | D | 0.739 | 0.713 | 0.701891041808 | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86051E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.714 | likely_pathogenic | 0.7162 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/D | 0.9984 | likely_pathogenic | 0.9992 | pathogenic | -2.094 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.627624554 | None | None | N |
| A/E | 0.9952 | likely_pathogenic | 0.9972 | pathogenic | -2.093 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/F | 0.9692 | likely_pathogenic | 0.9801 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/G | 0.3609 | ambiguous | 0.3835 | ambiguous | -1.377 | Destabilizing | 1.0 | D | 0.562 | neutral | D | 0.560125361 | None | None | N |
| A/H | 0.9972 | likely_pathogenic | 0.9983 | pathogenic | -1.699 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/I | 0.7878 | likely_pathogenic | 0.8638 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/K | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| A/L | 0.741 | likely_pathogenic | 0.7767 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| A/M | 0.8843 | likely_pathogenic | 0.9193 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/N | 0.9949 | likely_pathogenic | 0.9973 | pathogenic | -1.244 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| A/P | 0.9946 | likely_pathogenic | 0.997 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.601884638 | None | None | N |
| A/Q | 0.988 | likely_pathogenic | 0.9922 | pathogenic | -1.387 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/R | 0.993 | likely_pathogenic | 0.9954 | pathogenic | -1.1 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| A/S | 0.4458 | ambiguous | 0.5497 | ambiguous | -1.525 | Destabilizing | 1.0 | D | 0.567 | neutral | D | 0.578728893 | None | None | N |
| A/T | 0.6116 | likely_pathogenic | 0.7639 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.610797976 | None | None | N |
| A/V | 0.4629 | ambiguous | 0.5862 | pathogenic | -0.597 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.500542852 | None | None | N |
| A/W | 0.9985 | likely_pathogenic | 0.9991 | pathogenic | -1.655 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/Y | 0.9936 | likely_pathogenic | 0.9959 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.855 | 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.