Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9767 | 29524;29525;29526 | chr2:178706575;178706574;178706573 | chr2:179571302;179571301;179571300 |
| N2AB | 9450 | 28573;28574;28575 | chr2:178706575;178706574;178706573 | chr2:179571302;179571301;179571300 |
| N2A | 8523 | 25792;25793;25794 | chr2:178706575;178706574;178706573 | chr2:179571302;179571301;179571300 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/R | None | None | 1.0 | None | 0.837 | 0.67 | 0.847472496876 | gnomAD-4.0.0 | 1.59098E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85775E-06 | 0 | 0 |
| G/V | rs2075906507  |
None | 1.0 | None | 0.794 | 0.659 | 0.907400704715 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs2075906507 |
None | 1.0 | None | 0.794 | 0.659 | 0.907400704715 | gnomAD-4.0.0 | 6.57678E-06 | None | None | None | None | I | None | 2.41581E-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 | 0.9045 | likely_pathogenic | 0.7507 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| G/C | 0.9882 | likely_pathogenic | 0.9517 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/D | 0.9918 | likely_pathogenic | 0.9748 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| G/E | 0.9966 | likely_pathogenic | 0.9865 | pathogenic | -0.493 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/F | 0.9973 | likely_pathogenic | 0.9907 | pathogenic | -0.852 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | I |
| G/H | 0.9986 | likely_pathogenic | 0.9937 | pathogenic | -1.144 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| G/I | 0.9977 | likely_pathogenic | 0.9892 | pathogenic | -0.098 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/K | 0.9987 | likely_pathogenic | 0.9948 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/L | 0.9964 | likely_pathogenic | 0.9865 | pathogenic | -0.098 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/M | 0.9982 | likely_pathogenic | 0.9919 | pathogenic | -0.163 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| G/N | 0.9949 | likely_pathogenic | 0.9812 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.9997 | likely_pathogenic | 0.999 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | I |
| G/Q | 0.9966 | likely_pathogenic | 0.9862 | pathogenic | -0.78 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/R | 0.995 | likely_pathogenic | 0.9813 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/S | 0.8989 | likely_pathogenic | 0.7091 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/T | 0.9898 | likely_pathogenic | 0.9604 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/V | 0.9947 | likely_pathogenic | 0.976 | pathogenic | -0.21 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/W | 0.9973 | likely_pathogenic | 0.99 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/Y | 0.998 | likely_pathogenic | 0.9919 | pathogenic | -0.766 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
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.