Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7137 | 21634;21635;21636 | chr2:178723691;178723690;178723689 | chr2:179588418;179588417;179588416 |
| N2AB | 6820 | 20683;20684;20685 | chr2:178723691;178723690;178723689 | chr2:179588418;179588417;179588416 |
| N2A | 5893 | 17902;17903;17904 | chr2:178723691;178723690;178723689 | chr2:179588418;179588417;179588416 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 1.0 | D | 0.858 | 0.655 | 0.766497784903 | gnomAD-4.0.0 | 7.00313E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.10692E-07 | 0 | 0 |
| P/L | rs886043853  |
None | 1.0 | D | 0.882 | 0.659 | 0.827666919745 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/L | rs886043853 |
None | 1.0 | D | 0.882 | 0.659 | 0.827666919745 | gnomAD-4.0.0 | 3.16453E-06 | None | None | None | None | N | None | 1.3614E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.71517E-06 | 2.38203E-05 | 0 |
| P/R | rs886043853 |
-0.987 | 1.0 | D | 0.881 | 0.649 | 0.766497784903 | gnomAD-2.1.1 | 4.63E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.9E-06 | 0 |
| P/R | rs886043853 |
-0.987 | 1.0 | D | 0.881 | 0.649 | 0.766497784903 | gnomAD-4.0.0 | 2.80125E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.64277E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.4782 | ambiguous | 0.3586 | ambiguous | -1.418 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.616316335 | None | None | N |
| P/C | 0.9539 | likely_pathogenic | 0.9416 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/D | 0.9976 | likely_pathogenic | 0.9967 | pathogenic | -0.639 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| P/E | 0.9902 | likely_pathogenic | 0.987 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/F | 0.9922 | likely_pathogenic | 0.9882 | pathogenic | -0.948 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/G | 0.9715 | likely_pathogenic | 0.9564 | pathogenic | -1.796 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/H | 0.9856 | likely_pathogenic | 0.9817 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.858 | deleterious | D | 0.649192635 | None | None | N |
| P/I | 0.8588 | likely_pathogenic | 0.825 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | N |
| P/K | 0.9939 | likely_pathogenic | 0.9921 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| P/L | 0.6924 | likely_pathogenic | 0.6271 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.648990831 | None | None | N |
| P/M | 0.9581 | likely_pathogenic | 0.9445 | pathogenic | -0.574 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| P/N | 0.9951 | likely_pathogenic | 0.9933 | pathogenic | -0.847 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| P/Q | 0.977 | likely_pathogenic | 0.9714 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| P/R | 0.9779 | likely_pathogenic | 0.9695 | pathogenic | -0.683 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.649192635 | None | None | N |
| P/S | 0.8963 | likely_pathogenic | 0.8583 | pathogenic | -1.569 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.648789026 | None | None | N |
| P/T | 0.8486 | likely_pathogenic | 0.8117 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.648990831 | None | None | N |
| P/V | 0.7133 | likely_pathogenic | 0.6587 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| P/W | 0.9985 | likely_pathogenic | 0.9978 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| P/Y | 0.9955 | likely_pathogenic | 0.9934 | pathogenic | -0.796 | Destabilizing | 1.0 | D | 0.879 | 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.