Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28317 | 85174;85175;85176 | chr2:178561183;178561182;178561181 | chr2:179425910;179425909;179425908 |
| N2AB | 26676 | 80251;80252;80253 | chr2:178561183;178561182;178561181 | chr2:179425910;179425909;179425908 |
| N2A | 25749 | 77470;77471;77472 | chr2:178561183;178561182;178561181 | chr2:179425910;179425909;179425908 |
| N2B | 19252 | 57979;57980;57981 | chr2:178561183;178561182;178561181 | chr2:179425910;179425909;179425908 |
| Novex-1 | 19377 | 58354;58355;58356 | chr2:178561183;178561182;178561181 | chr2:179425910;179425909;179425908 |
| Novex-2 | 19444 | 58555;58556;58557 | chr2:178561183;178561182;178561181 | chr2:179425910;179425909;179425908 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | None | None | 1.0 | D | 0.87 | 0.757 | 0.857739518973 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.66327E-05 |
| L/I | rs1167807939  |
None | 0.999 | D | 0.83 | 0.673 | 0.80943609516 | 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 |
| L/I | rs1167807939 |
None | 0.999 | D | 0.83 | 0.673 | 0.80943609516 | gnomAD-4.0.0 | 6.57324E-06 | None | None | None | None | N | None | 2.41383E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.9444 | likely_pathogenic | 0.9434 | pathogenic | -2.649 | Highly Destabilizing | 0.999 | D | 0.833 | deleterious | None | None | None | None | N |
| L/C | 0.8656 | likely_pathogenic | 0.8803 | pathogenic | -2.155 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| L/D | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -2.687 | Highly Destabilizing | 1.0 | D | 0.854 | deleterious | None | None | None | None | N |
| L/E | 0.9957 | likely_pathogenic | 0.9946 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | N |
| L/F | 0.8793 | likely_pathogenic | 0.882 | pathogenic | -1.658 | Destabilizing | 1.0 | D | 0.87 | deleterious | D | 0.664744077 | None | None | N |
| L/G | 0.9844 | likely_pathogenic | 0.9854 | pathogenic | -3.206 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| L/H | 0.9935 | likely_pathogenic | 0.9931 | pathogenic | -2.541 | Highly Destabilizing | 1.0 | D | 0.802 | deleterious | D | 0.681570655 | None | None | N |
| L/I | 0.4589 | ambiguous | 0.434 | ambiguous | -1.042 | Destabilizing | 0.999 | D | 0.83 | deleterious | D | 0.600818435 | None | None | N |
| L/K | 0.9934 | likely_pathogenic | 0.9927 | pathogenic | -1.923 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| L/M | 0.4036 | ambiguous | 0.3928 | ambiguous | -1.128 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/N | 0.992 | likely_pathogenic | 0.9907 | pathogenic | -2.265 | Highly Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| L/P | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.665551294 | None | None | N |
| L/Q | 0.9857 | likely_pathogenic | 0.9821 | pathogenic | -2.14 | Highly Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| L/R | 0.9886 | likely_pathogenic | 0.9879 | pathogenic | -1.631 | Destabilizing | 1.0 | D | 0.848 | deleterious | D | 0.656032543 | None | None | N |
| L/S | 0.9946 | likely_pathogenic | 0.9939 | pathogenic | -3.053 | Highly Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| L/T | 0.9708 | likely_pathogenic | 0.9672 | pathogenic | -2.669 | Highly Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| L/V | 0.5375 | ambiguous | 0.5045 | ambiguous | -1.558 | Destabilizing | 0.999 | D | 0.84 | deleterious | D | 0.600929158 | None | None | N |
| L/W | 0.9893 | likely_pathogenic | 0.9899 | pathogenic | -1.95 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| L/Y | 0.9847 | likely_pathogenic | 0.985 | pathogenic | -1.686 | Destabilizing | 1.0 | D | 0.827 | 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.