Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30701 | 92326;92327;92328 | chr2:178549621;178549620;178549619 | chr2:179414348;179414347;179414346 |
| N2AB | 29060 | 87403;87404;87405 | chr2:178549621;178549620;178549619 | chr2:179414348;179414347;179414346 |
| N2A | 28133 | 84622;84623;84624 | chr2:178549621;178549620;178549619 | chr2:179414348;179414347;179414346 |
| N2B | 21636 | 65131;65132;65133 | chr2:178549621;178549620;178549619 | chr2:179414348;179414347;179414346 |
| Novex-1 | 21761 | 65506;65507;65508 | chr2:178549621;178549620;178549619 | chr2:179414348;179414347;179414346 |
| Novex-2 | 21828 | 65707;65708;65709 | chr2:178549621;178549620;178549619 | chr2:179414348;179414347;179414346 |
| 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/A | rs2154148355  |
None | 1.0 | D | 0.78 | 0.712 | 0.478144874143 | gnomAD-4.0.0 | 1.59146E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77316E-05 | 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 | 0.7884 | likely_pathogenic | 0.8117 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.544192149 | None | None | I |
| G/C | 0.9177 | likely_pathogenic | 0.9186 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.884 | deleterious | D | 0.568336792 | None | None | I |
| G/D | 0.9552 | likely_pathogenic | 0.9579 | pathogenic | -0.937 | Destabilizing | 1.0 | D | 0.93 | deleterious | D | 0.556308923 | None | None | I |
| G/E | 0.9789 | likely_pathogenic | 0.9801 | pathogenic | -1.062 | Destabilizing | 1.0 | D | 0.926 | deleterious | None | None | None | None | I |
| G/F | 0.9916 | likely_pathogenic | 0.9923 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | I |
| G/H | 0.9815 | likely_pathogenic | 0.9819 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | I |
| G/I | 0.9897 | likely_pathogenic | 0.9908 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.912 | deleterious | None | None | None | None | I |
| G/K | 0.9867 | likely_pathogenic | 0.9873 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/L | 0.9809 | likely_pathogenic | 0.9837 | pathogenic | -0.567 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | I |
| G/M | 0.9898 | likely_pathogenic | 0.9915 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/N | 0.9624 | likely_pathogenic | 0.9643 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/P | 0.9977 | likely_pathogenic | 0.9981 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/Q | 0.9683 | likely_pathogenic | 0.9696 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | I |
| G/R | 0.9534 | likely_pathogenic | 0.9557 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.934 | deleterious | D | 0.556055434 | None | None | I |
| G/S | 0.6705 | likely_pathogenic | 0.6783 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.555294965 | None | None | I |
| G/T | 0.9429 | likely_pathogenic | 0.9437 | pathogenic | -1.089 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/V | 0.9776 | likely_pathogenic | 0.9804 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.532835844 | None | None | I |
| G/W | 0.9844 | likely_pathogenic | 0.9865 | pathogenic | -1.346 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/Y | 0.9863 | likely_pathogenic | 0.9873 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.905 | 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.