Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25896 | 77911;77912;77913 | chr2:178568446;178568445;178568444 | chr2:179433173;179433172;179433171 |
| N2AB | 24255 | 72988;72989;72990 | chr2:178568446;178568445;178568444 | chr2:179433173;179433172;179433171 |
| N2A | 23328 | 70207;70208;70209 | chr2:178568446;178568445;178568444 | chr2:179433173;179433172;179433171 |
| N2B | 16831 | 50716;50717;50718 | chr2:178568446;178568445;178568444 | chr2:179433173;179433172;179433171 |
| Novex-1 | 16956 | 51091;51092;51093 | chr2:178568446;178568445;178568444 | chr2:179433173;179433172;179433171 |
| Novex-2 | 17023 | 51292;51293;51294 | chr2:178568446;178568445;178568444 | chr2:179433173;179433172;179433171 |
| 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/V | rs766283033  |
0.256 | 1.0 | N | 0.751 | 0.489 | 0.506006782367 | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.16661E-04 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs766283033 |
0.256 | 1.0 | N | 0.751 | 0.489 | 0.506006782367 | gnomAD-4.0.0 | 1.11464E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.66852E-04 | None | 0 | 0 | 2.85969E-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 | 0.4823 | ambiguous | 0.5505 | ambiguous | -0.454 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.502463625 | None | None | N |
| G/C | 0.7971 | likely_pathogenic | 0.877 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/D | 0.8571 | likely_pathogenic | 0.9041 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/E | 0.8642 | likely_pathogenic | 0.9146 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.75 | deleterious | N | 0.48395136 | None | None | N |
| G/F | 0.9208 | likely_pathogenic | 0.9475 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| G/H | 0.965 | likely_pathogenic | 0.9786 | pathogenic | -0.716 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/I | 0.8726 | likely_pathogenic | 0.9234 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| G/K | 0.9664 | likely_pathogenic | 0.9775 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/L | 0.8787 | likely_pathogenic | 0.9155 | pathogenic | -0.468 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | N |
| G/M | 0.924 | likely_pathogenic | 0.9543 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/N | 0.905 | likely_pathogenic | 0.9398 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | N |
| G/P | 0.8404 | likely_pathogenic | 0.8504 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/Q | 0.9477 | likely_pathogenic | 0.9675 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| G/R | 0.9618 | likely_pathogenic | 0.9752 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | N | 0.469823578 | None | None | N |
| G/S | 0.5433 | ambiguous | 0.6429 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| G/T | 0.8362 | likely_pathogenic | 0.8918 | pathogenic | -0.964 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| G/V | 0.8357 | likely_pathogenic | 0.8947 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.494475199 | None | None | N |
| G/W | 0.9075 | likely_pathogenic | 0.9431 | pathogenic | -1.207 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| G/Y | 0.8747 | likely_pathogenic | 0.9142 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.698 | prob.neutral | 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.