Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30687 | 92284;92285;92286 | chr2:178549663;178549662;178549661 | chr2:179414390;179414389;179414388 |
| N2AB | 29046 | 87361;87362;87363 | chr2:178549663;178549662;178549661 | chr2:179414390;179414389;179414388 |
| N2A | 28119 | 84580;84581;84582 | chr2:178549663;178549662;178549661 | chr2:179414390;179414389;179414388 |
| N2B | 21622 | 65089;65090;65091 | chr2:178549663;178549662;178549661 | chr2:179414390;179414389;179414388 |
| Novex-1 | 21747 | 65464;65465;65466 | chr2:178549663;178549662;178549661 | chr2:179414390;179414389;179414388 |
| Novex-2 | 21814 | 65665;65666;65667 | chr2:178549663;178549662;178549661 | chr2:179414390;179414389;179414388 |
| 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/D | rs767929728  |
-0.953 | 0.898 | N | 0.609 | 0.359 | 0.380564188046 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| G/D | rs767929728 |
-0.953 | 0.898 | N | 0.609 | 0.359 | 0.380564188046 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs767929728 |
-0.953 | 0.898 | N | 0.609 | 0.359 | 0.380564188046 | gnomAD-4.0.0 | 7.68679E-06 | None | None | None | None | N | None | 3.38272E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78618E-06 | 2.68053E-05 | 0 |
| G/S | rs375190050 |
-0.917 | 1.0 | N | 0.796 | 0.542 | None | gnomAD-2.1.1 | 1.79E-05 | None | None | None | None | N | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| G/S | rs375190050 |
-0.917 | 1.0 | N | 0.796 | 0.542 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/S | rs375190050 |
-0.917 | 1.0 | N | 0.796 | 0.542 | None | gnomAD-4.0.0 | 2.97465E-05 | None | None | None | None | N | None | 4.00545E-05 | 1.66772E-05 | None | 0 | 0 | None | 0 | 0 | 3.39049E-05 | 3.29431E-05 | 1.60128E-05 |
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 | 0.4673 | ambiguous | 0.5386 | ambiguous | -0.622 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | N | 0.513411235 | None | None | N |
| G/C | 0.5348 | ambiguous | 0.5635 | ambiguous | -0.977 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.553293502 | None | None | N |
| G/D | 0.3699 | ambiguous | 0.4685 | ambiguous | -1.123 | Destabilizing | 0.898 | D | 0.609 | neutral | N | 0.480961707 | None | None | N |
| G/E | 0.5173 | ambiguous | 0.6217 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/F | 0.8982 | likely_pathogenic | 0.9265 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/H | 0.5842 | likely_pathogenic | 0.6486 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/I | 0.9021 | likely_pathogenic | 0.9232 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/K | 0.5956 | likely_pathogenic | 0.6743 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/L | 0.8679 | likely_pathogenic | 0.8936 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/M | 0.8622 | likely_pathogenic | 0.8926 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | N |
| G/N | 0.3408 | ambiguous | 0.4001 | ambiguous | -0.79 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/P | 0.9913 | likely_pathogenic | 0.9934 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | N |
| G/Q | 0.5201 | ambiguous | 0.5856 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/R | 0.472 | ambiguous | 0.554 | ambiguous | -0.612 | Destabilizing | 1.0 | D | 0.892 | deleterious | D | 0.525528009 | None | None | N |
| G/S | 0.2065 | likely_benign | 0.2468 | benign | -0.927 | Destabilizing | 1.0 | D | 0.796 | deleterious | N | 0.504661822 | None | None | N |
| G/T | 0.5407 | ambiguous | 0.6033 | pathogenic | -1.022 | Destabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| G/V | 0.8383 | likely_pathogenic | 0.8716 | pathogenic | -0.609 | Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.541430218 | None | None | N |
| G/W | 0.778 | likely_pathogenic | 0.8167 | pathogenic | -1.422 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Y | 0.7704 | likely_pathogenic | 0.8252 | pathogenic | -1.098 | Destabilizing | 1.0 | D | 0.865 | 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.