Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25126 | 75601;75602;75603 | chr2:178570756;178570755;178570754 | chr2:179435483;179435482;179435481 |
| N2AB | 23485 | 70678;70679;70680 | chr2:178570756;178570755;178570754 | chr2:179435483;179435482;179435481 |
| N2A | 22558 | 67897;67898;67899 | chr2:178570756;178570755;178570754 | chr2:179435483;179435482;179435481 |
| N2B | 16061 | 48406;48407;48408 | chr2:178570756;178570755;178570754 | chr2:179435483;179435482;179435481 |
| Novex-1 | 16186 | 48781;48782;48783 | chr2:178570756;178570755;178570754 | chr2:179435483;179435482;179435481 |
| Novex-2 | 16253 | 48982;48983;48984 | chr2:178570756;178570755;178570754 | chr2:179435483;179435482;179435481 |
| 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 | rs776574546  |
-0.807 | 0.898 | D | 0.565 | 0.684 | 0.600903938228 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs776574546 |
-0.807 | 0.898 | D | 0.565 | 0.684 | 0.600903938228 | gnomAD-4.0.0 | 1.36859E-06 | None | None | None | None | N | None | 2.99007E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99578E-07 | 0 | 0 |
| G/S | rs761767394 |
-0.655 | 1.0 | D | 0.817 | 0.725 | 0.654939258183 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/S | rs761767394 |
-0.655 | 1.0 | D | 0.817 | 0.725 | 0.654939258183 | gnomAD-4.0.0 | 4.77514E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.578E-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 | 0.5532 | ambiguous | 0.6024 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.73 | prob.delet. | D | 0.60200249 | None | None | N |
| G/C | 0.6557 | likely_pathogenic | 0.7148 | pathogenic | -0.898 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.634878789 | None | None | N |
| G/D | 0.664 | likely_pathogenic | 0.7654 | pathogenic | -0.864 | Destabilizing | 0.898 | D | 0.565 | neutral | D | 0.581582719 | None | None | N |
| G/E | 0.7007 | likely_pathogenic | 0.7845 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/F | 0.9481 | likely_pathogenic | 0.9615 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/H | 0.7811 | likely_pathogenic | 0.8412 | pathogenic | -0.606 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/I | 0.9549 | likely_pathogenic | 0.9634 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | N |
| G/K | 0.7181 | likely_pathogenic | 0.796 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| G/L | 0.8838 | likely_pathogenic | 0.9074 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/M | 0.9068 | likely_pathogenic | 0.9262 | pathogenic | -0.426 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| G/N | 0.6293 | likely_pathogenic | 0.6816 | pathogenic | -0.513 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9906 | likely_pathogenic | 0.9936 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/Q | 0.6785 | likely_pathogenic | 0.7525 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/R | 0.5872 | likely_pathogenic | 0.6628 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.62495643 | None | None | N |
| G/S | 0.3134 | likely_benign | 0.3577 | ambiguous | -0.618 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.601800686 | None | None | N |
| G/T | 0.6843 | likely_pathogenic | 0.7386 | pathogenic | -0.735 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/V | 0.8958 | likely_pathogenic | 0.914 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.650696346 | None | None | N |
| G/W | 0.8521 | likely_pathogenic | 0.8889 | pathogenic | -1.32 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/Y | 0.905 | likely_pathogenic | 0.9304 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.83 | 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.