Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30595 | 92008;92009;92010 | chr2:178550055;178550054;178550053 | chr2:179414782;179414781;179414780 |
| N2AB | 28954 | 87085;87086;87087 | chr2:178550055;178550054;178550053 | chr2:179414782;179414781;179414780 |
| N2A | 28027 | 84304;84305;84306 | chr2:178550055;178550054;178550053 | chr2:179414782;179414781;179414780 |
| N2B | 21530 | 64813;64814;64815 | chr2:178550055;178550054;178550053 | chr2:179414782;179414781;179414780 |
| Novex-1 | 21655 | 65188;65189;65190 | chr2:178550055;178550054;178550053 | chr2:179414782;179414781;179414780 |
| Novex-2 | 21722 | 65389;65390;65391 | chr2:178550055;178550054;178550053 | chr2:179414782;179414781;179414780 |
| 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 | rs1221459026  |
-2.076 | 1.0 | D | 0.835 | 0.709 | 0.70185832562 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1221459026 |
-2.076 | 1.0 | D | 0.835 | 0.709 | 0.70185832562 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 6.32911E-03 | 0 | 0 | 0 |
| G/D | rs1221459026 |
-2.076 | 1.0 | D | 0.835 | 0.709 | 0.70185832562 | gnomAD-4.0.0 | 2.47862E-06 | None | None | None | None | I | None | 1.33305E-05 | 0 | None | 0 | 0 | None | 0 | 1.65071E-04 | 8.47629E-07 | 0 | 1.60056E-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 | 0.4423 | ambiguous | 0.4891 | ambiguous | -0.636 | Destabilizing | 1.0 | D | 0.755 | deleterious | D | 0.578648531 | None | None | I |
| G/C | 0.8452 | likely_pathogenic | 0.8609 | pathogenic | -0.717 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.655069985 | None | None | I |
| G/D | 0.9203 | likely_pathogenic | 0.9363 | pathogenic | -1.27 | Destabilizing | 1.0 | D | 0.835 | deleterious | D | 0.638647016 | None | None | I |
| G/E | 0.9655 | likely_pathogenic | 0.9704 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/F | 0.9875 | likely_pathogenic | 0.9889 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| G/H | 0.9858 | likely_pathogenic | 0.9873 | pathogenic | -1.456 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/I | 0.9841 | likely_pathogenic | 0.9846 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.9896 | likely_pathogenic | 0.9896 | pathogenic | -1.279 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/L | 0.9711 | likely_pathogenic | 0.9741 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/M | 0.974 | likely_pathogenic | 0.9772 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/N | 0.9456 | likely_pathogenic | 0.9504 | pathogenic | -0.989 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/P | 0.9986 | likely_pathogenic | 0.9989 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | I |
| G/Q | 0.9704 | likely_pathogenic | 0.9727 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/R | 0.9732 | likely_pathogenic | 0.9751 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.654868181 | None | None | I |
| G/S | 0.5385 | ambiguous | 0.5849 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.617318228 | None | None | I |
| G/T | 0.9064 | likely_pathogenic | 0.9151 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/V | 0.9557 | likely_pathogenic | 0.9587 | pathogenic | -0.243 | Destabilizing | 1.0 | D | 0.799 | deleterious | D | 0.655069985 | None | None | I |
| G/W | 0.9831 | likely_pathogenic | 0.9853 | pathogenic | -1.362 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | I |
| G/Y | 0.9835 | likely_pathogenic | 0.9848 | pathogenic | -0.888 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
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.