Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18543 | 55852;55853;55854 | chr2:178601370;178601369;178601368 | chr2:179466097;179466096;179466095 |
| N2AB | 16902 | 50929;50930;50931 | chr2:178601370;178601369;178601368 | chr2:179466097;179466096;179466095 |
| N2A | 15975 | 48148;48149;48150 | chr2:178601370;178601369;178601368 | chr2:179466097;179466096;179466095 |
| N2B | 9478 | 28657;28658;28659 | chr2:178601370;178601369;178601368 | chr2:179466097;179466096;179466095 |
| Novex-1 | 9603 | 29032;29033;29034 | chr2:178601370;178601369;178601368 | chr2:179466097;179466096;179466095 |
| Novex-2 | 9670 | 29233;29234;29235 | chr2:178601370;178601369;178601368 | chr2:179466097;179466096;179466095 |
| 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/I | rs374878433  |
-1.344 | 0.999 | D | 0.827 | 0.732 | 0.761581445113 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.69147E-04 | None | 0 | None | 0 | 0 | 0 |
| L/I | rs374878433 |
-1.344 | 0.999 | D | 0.827 | 0.732 | 0.761581445113 | gnomAD-4.0.0 | 4.78086E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57507E-05 | None | 0 | 0 | 2.86192E-06 | 0 | 0 |
| L/V | rs374878433 |
-1.839 | 0.999 | D | 0.833 | 0.742 | None | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| L/V | rs374878433 |
-1.839 | 0.999 | D | 0.833 | 0.742 | None | gnomAD-4.0.0 | 6.37448E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.14477E-05 | 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 | 0.9787 | likely_pathogenic | 0.9768 | pathogenic | -2.763 | Highly Destabilizing | 0.999 | D | 0.824 | deleterious | None | None | None | None | N |
| L/C | 0.9527 | likely_pathogenic | 0.9648 | pathogenic | -2.724 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| L/D | 0.9993 | likely_pathogenic | 0.999 | pathogenic | -2.86 | Highly Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| L/E | 0.9975 | likely_pathogenic | 0.9963 | pathogenic | -2.673 | Highly Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| L/F | 0.9106 | likely_pathogenic | 0.9155 | pathogenic | -1.947 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.64593874 | None | None | N |
| L/G | 0.9934 | likely_pathogenic | 0.9915 | pathogenic | -3.275 | Highly Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| L/H | 0.9952 | likely_pathogenic | 0.994 | pathogenic | -2.6 | Highly Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.662765318 | None | None | N |
| L/I | 0.4083 | ambiguous | 0.4493 | ambiguous | -1.295 | Destabilizing | 0.999 | D | 0.827 | deleterious | D | 0.623570571 | None | None | N |
| L/K | 0.9947 | likely_pathogenic | 0.9931 | pathogenic | -2.175 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| L/M | 0.5427 | ambiguous | 0.5762 | pathogenic | -1.475 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| L/N | 0.9949 | likely_pathogenic | 0.9937 | pathogenic | -2.475 | Highly Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| L/P | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -1.764 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.662765318 | None | None | N |
| L/Q | 0.9904 | likely_pathogenic | 0.9882 | pathogenic | -2.422 | Highly Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| L/R | 0.9892 | likely_pathogenic | 0.9859 | pathogenic | -1.769 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.646745957 | None | None | N |
| L/S | 0.9965 | likely_pathogenic | 0.9955 | pathogenic | -3.271 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| L/T | 0.9736 | likely_pathogenic | 0.9725 | pathogenic | -2.928 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| L/V | 0.5021 | ambiguous | 0.5445 | ambiguous | -1.764 | Destabilizing | 0.999 | D | 0.833 | deleterious | D | 0.586999279 | None | None | N |
| L/W | 0.9953 | likely_pathogenic | 0.9945 | pathogenic | -2.17 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| L/Y | 0.9932 | likely_pathogenic | 0.9929 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.829 | 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.