Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15941 | 48046;48047;48048 | chr2:178617174;178617173;178617172 | chr2:179481901;179481900;179481899 |
| N2AB | 14300 | 43123;43124;43125 | chr2:178617174;178617173;178617172 | chr2:179481901;179481900;179481899 |
| N2A | 13373 | 40342;40343;40344 | chr2:178617174;178617173;178617172 | chr2:179481901;179481900;179481899 |
| N2B | 6876 | 20851;20852;20853 | chr2:178617174;178617173;178617172 | chr2:179481901;179481900;179481899 |
| Novex-1 | 7001 | 21226;21227;21228 | chr2:178617174;178617173;178617172 | chr2:179481901;179481900;179481899 |
| Novex-2 | 7068 | 21427;21428;21429 | chr2:178617174;178617173;178617172 | chr2:179481901;179481900;179481899 |
| 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 | None | None | 1.0 | D | 0.768 | 0.68 | 0.455265801863 | gnomAD-4.0.0 | 1.62144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.46994E-05 | 0 |
| G/D | None | None | 1.0 | D | 0.929 | 0.679 | 0.464528537357 | gnomAD-4.0.0 | 1.62144E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.90748E-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 | 0.7959 | likely_pathogenic | 0.7332 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.768 | deleterious | D | 0.78787106 | None | None | N |
| G/C | 0.9239 | likely_pathogenic | 0.8993 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.789277969 | None | None | N |
| G/D | 0.9459 | likely_pathogenic | 0.928 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.660010944 | None | None | N |
| G/E | 0.963 | likely_pathogenic | 0.953 | pathogenic | -1.276 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/F | 0.9854 | likely_pathogenic | 0.9791 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | N |
| G/H | 0.9824 | likely_pathogenic | 0.9756 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/I | 0.9852 | likely_pathogenic | 0.9788 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | N |
| G/K | 0.9771 | likely_pathogenic | 0.97 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.92 | deleterious | None | None | None | None | N |
| G/L | 0.9806 | likely_pathogenic | 0.9703 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| G/M | 0.9878 | likely_pathogenic | 0.9814 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/N | 0.9714 | likely_pathogenic | 0.9559 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| G/P | 0.9987 | likely_pathogenic | 0.9981 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/Q | 0.9672 | likely_pathogenic | 0.9584 | pathogenic | -1.174 | Destabilizing | 1.0 | D | 0.929 | deleterious | None | None | None | None | N |
| G/R | 0.9414 | likely_pathogenic | 0.9308 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.931 | deleterious | D | 0.755188364 | None | None | N |
| G/S | 0.756 | likely_pathogenic | 0.6813 | pathogenic | -1.009 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.734544335 | None | None | N |
| G/T | 0.9414 | likely_pathogenic | 0.9198 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| G/V | 0.9666 | likely_pathogenic | 0.9542 | pathogenic | -0.647 | Destabilizing | 1.0 | D | 0.901 | deleterious | D | 0.7184448 | None | None | N |
| G/W | 0.9722 | likely_pathogenic | 0.9679 | pathogenic | -1.412 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/Y | 0.979 | likely_pathogenic | 0.9718 | pathogenic | -1.091 | Destabilizing | 1.0 | D | 0.903 | 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.