Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3370 | 10333;10334;10335 | chr2:178764183;178764182;178764181 | chr2:179628910;179628909;179628908 |
| N2AB | 3370 | 10333;10334;10335 | chr2:178764183;178764182;178764181 | chr2:179628910;179628909;179628908 |
| N2A | 3370 | 10333;10334;10335 | chr2:178764183;178764182;178764181 | chr2:179628910;179628909;179628908 |
| N2B | 3324 | 10195;10196;10197 | chr2:178764183;178764182;178764181 | chr2:179628910;179628909;179628908 |
| Novex-1 | 3324 | 10195;10196;10197 | chr2:178764183;178764182;178764181 | chr2:179628910;179628909;179628908 |
| Novex-2 | 3324 | 10195;10196;10197 | chr2:178764183;178764182;178764181 | chr2:179628910;179628909;179628908 |
| Novex-3 | 3370 | 10333;10334;10335 | chr2:178764183;178764182;178764181 | chr2:179628910;179628909;179628908 |
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/V | None | None | 1.0 | D | 0.789 | 0.82 | 0.943895591927 | gnomAD-4.0.0 | 1.5906E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85682E-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 | 0.6609 | likely_pathogenic | 0.6499 | pathogenic | -0.25 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.597236272 | None | None | I |
| G/C | 0.9534 | likely_pathogenic | 0.9413 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | I |
| G/D | 0.9743 | likely_pathogenic | 0.9649 | pathogenic | -0.728 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | I |
| G/E | 0.9839 | likely_pathogenic | 0.9809 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.715114977 | None | None | I |
| G/F | 0.9957 | likely_pathogenic | 0.9942 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/H | 0.9951 | likely_pathogenic | 0.9928 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| G/I | 0.988 | likely_pathogenic | 0.9859 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/K | 0.9949 | likely_pathogenic | 0.9932 | pathogenic | -0.895 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| G/L | 0.9878 | likely_pathogenic | 0.986 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.794 | deleterious | None | None | None | None | I |
| G/M | 0.9943 | likely_pathogenic | 0.9926 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | I |
| G/N | 0.981 | likely_pathogenic | 0.9742 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/P | 0.9967 | likely_pathogenic | 0.9961 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| G/Q | 0.9894 | likely_pathogenic | 0.9865 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/R | 0.9823 | likely_pathogenic | 0.9772 | pathogenic | -0.434 | Destabilizing | 1.0 | D | 0.822 | deleterious | D | 0.694780509 | None | None | I |
| G/S | 0.6371 | likely_pathogenic | 0.6102 | pathogenic | -0.626 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/T | 0.9474 | likely_pathogenic | 0.9404 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/V | 0.9661 | likely_pathogenic | 0.9624 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.767953124 | None | None | I |
| G/W | 0.9923 | likely_pathogenic | 0.9893 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | I |
| G/Y | 0.995 | likely_pathogenic | 0.9933 | pathogenic | -0.813 | Destabilizing | 1.0 | D | 0.766 | 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.