Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20255 | 60988;60989;60990 | chr2:178590962;178590961;178590960 | chr2:179455689;179455688;179455687 |
| N2AB | 18614 | 56065;56066;56067 | chr2:178590962;178590961;178590960 | chr2:179455689;179455688;179455687 |
| N2A | 17687 | 53284;53285;53286 | chr2:178590962;178590961;178590960 | chr2:179455689;179455688;179455687 |
| N2B | 11190 | 33793;33794;33795 | chr2:178590962;178590961;178590960 | chr2:179455689;179455688;179455687 |
| Novex-1 | 11315 | 34168;34169;34170 | chr2:178590962;178590961;178590960 | chr2:179455689;179455688;179455687 |
| Novex-2 | 11382 | 34369;34370;34371 | chr2:178590962;178590961;178590960 | chr2:179455689;179455688;179455687 |
| 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/S | rs1248970109  |
-1.411 | 1.0 | N | 0.824 | 0.405 | 0.298745278005 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs1248970109 |
-1.411 | 1.0 | N | 0.824 | 0.405 | 0.298745278005 | 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 |
| G/S | rs1248970109 |
-1.411 | 1.0 | N | 0.824 | 0.405 | 0.298745278005 | gnomAD-4.0.0 | 2.56367E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.4273E-05 | None | 0 | 0 | 2.39451E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8145 | likely_pathogenic | 0.8333 | pathogenic | -0.848 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | D | 0.540574979 | None | None | N |
| G/C | 0.9638 | likely_pathogenic | 0.9614 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.859 | deleterious | D | 0.541588937 | None | None | N |
| G/D | 0.993 | likely_pathogenic | 0.9936 | pathogenic | -1.719 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.541081958 | None | None | N |
| G/E | 0.9961 | likely_pathogenic | 0.996 | pathogenic | -1.729 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| G/F | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/H | 0.9964 | likely_pathogenic | 0.9966 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9959 | likely_pathogenic | 0.9954 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| G/K | 0.9988 | likely_pathogenic | 0.9988 | pathogenic | -1.458 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| G/L | 0.993 | likely_pathogenic | 0.9926 | pathogenic | -0.324 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| G/M | 0.9967 | likely_pathogenic | 0.9965 | pathogenic | -0.305 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/N | 0.9918 | likely_pathogenic | 0.9915 | pathogenic | -1.202 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9991 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | N |
| G/Q | 0.9961 | likely_pathogenic | 0.9961 | pathogenic | -1.34 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/R | 0.9967 | likely_pathogenic | 0.9967 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.528711695 | None | None | N |
| G/S | 0.443 | ambiguous | 0.4856 | ambiguous | -1.435 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.424616996 | None | None | N |
| G/T | 0.9601 | likely_pathogenic | 0.9626 | pathogenic | -1.377 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| G/V | 0.993 | likely_pathogenic | 0.9929 | pathogenic | -0.458 | Destabilizing | 1.0 | D | 0.909 | deleterious | D | 0.541081958 | None | None | N |
| G/W | 0.9956 | likely_pathogenic | 0.9952 | pathogenic | -1.416 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/Y | 0.9968 | likely_pathogenic | 0.9967 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.881 | 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.