Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30146 | 90661;90662;90663 | chr2:178552464;178552463;178552462 | chr2:179417191;179417190;179417189 |
| N2AB | 28505 | 85738;85739;85740 | chr2:178552464;178552463;178552462 | chr2:179417191;179417190;179417189 |
| N2A | 27578 | 82957;82958;82959 | chr2:178552464;178552463;178552462 | chr2:179417191;179417190;179417189 |
| N2B | 21081 | 63466;63467;63468 | chr2:178552464;178552463;178552462 | chr2:179417191;179417190;179417189 |
| Novex-1 | 21206 | 63841;63842;63843 | chr2:178552464;178552463;178552462 | chr2:179417191;179417190;179417189 |
| Novex-2 | 21273 | 64042;64043;64044 | chr2:178552464;178552463;178552462 | chr2:179417191;179417190;179417189 |
| 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/E | rs758618786  |
-1.46 | 1.0 | D | 0.845 | 0.751 | 0.862107692015 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/R | rs766581267 |
-0.715 | 1.0 | D | 0.866 | 0.751 | 0.90245311394 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/R | rs766581267 |
-0.715 | 1.0 | D | 0.866 | 0.751 | 0.90245311394 | gnomAD-4.0.0 | 6.17608E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 7.21781E-06 | 0 | 1.66218E-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 | 0.6876 | likely_pathogenic | 0.608 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.776 | deleterious | D | 0.607806606 | None | None | I |
| G/C | 0.7365 | likely_pathogenic | 0.6719 | pathogenic | -0.757 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/D | 0.7626 | likely_pathogenic | 0.6415 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/E | 0.8846 | likely_pathogenic | 0.7989 | pathogenic | -1.269 | Destabilizing | 1.0 | D | 0.845 | deleterious | D | 0.58364184 | None | None | I |
| G/F | 0.9679 | likely_pathogenic | 0.9524 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/H | 0.9087 | likely_pathogenic | 0.8551 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/I | 0.9674 | likely_pathogenic | 0.9486 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/K | 0.9604 | likely_pathogenic | 0.9297 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/L | 0.9417 | likely_pathogenic | 0.9208 | pathogenic | -0.523 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/M | 0.963 | likely_pathogenic | 0.945 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | I |
| G/N | 0.6524 | likely_pathogenic | 0.5577 | ambiguous | -0.676 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/P | 0.9932 | likely_pathogenic | 0.9858 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/Q | 0.8805 | likely_pathogenic | 0.8159 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/R | 0.9131 | likely_pathogenic | 0.8578 | pathogenic | -0.655 | Destabilizing | 1.0 | D | 0.866 | deleterious | D | 0.601275636 | None | None | I |
| G/S | 0.3635 | ambiguous | 0.3076 | benign | -0.804 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | I |
| G/T | 0.8159 | likely_pathogenic | 0.747 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/V | 0.9515 | likely_pathogenic | 0.9254 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.633748326 | None | None | I |
| G/W | 0.92 | likely_pathogenic | 0.8782 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.633950131 | None | None | I |
| G/Y | 0.9377 | likely_pathogenic | 0.9061 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.839 | 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.