Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22341 | 67246;67247;67248 | chr2:178580358;178580357;178580356 | chr2:179445085;179445084;179445083 |
| N2AB | 20700 | 62323;62324;62325 | chr2:178580358;178580357;178580356 | chr2:179445085;179445084;179445083 |
| N2A | 19773 | 59542;59543;59544 | chr2:178580358;178580357;178580356 | chr2:179445085;179445084;179445083 |
| N2B | 13276 | 40051;40052;40053 | chr2:178580358;178580357;178580356 | chr2:179445085;179445084;179445083 |
| Novex-1 | 13401 | 40426;40427;40428 | chr2:178580358;178580357;178580356 | chr2:179445085;179445084;179445083 |
| Novex-2 | 13468 | 40627;40628;40629 | chr2:178580358;178580357;178580356 | chr2:179445085;179445084;179445083 |
| 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 | rs2047417746  |
None | 1.0 | D | 0.869 | 0.849 | 0.571380689955 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs2047417746 |
None | 1.0 | D | 0.869 | 0.849 | 0.571380689955 | gnomAD-4.0.0 | 6.57687E-06 | None | None | None | None | I | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs554588683 |
-0.122 | 1.0 | D | 0.817 | 0.837 | 0.501559347837 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/S | rs554588683 |
-0.122 | 1.0 | D | 0.817 | 0.837 | 0.501559347837 | gnomAD-4.0.0 | 1.0952E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.25961E-05 | 0 | 3.31532E-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 | 0.7406 | likely_pathogenic | 0.7082 | pathogenic | -0.188 | Destabilizing | 1.0 | D | 0.767 | deleterious | D | 0.5892281 | None | None | I |
| G/C | 0.8693 | likely_pathogenic | 0.8393 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.622709812 | None | None | I |
| G/D | 0.8893 | likely_pathogenic | 0.8515 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.604843852 | None | None | I |
| G/E | 0.9183 | likely_pathogenic | 0.8905 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/F | 0.9844 | likely_pathogenic | 0.9811 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | I |
| G/H | 0.9621 | likely_pathogenic | 0.9443 | pathogenic | -0.428 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/I | 0.9793 | likely_pathogenic | 0.973 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | I |
| G/K | 0.9599 | likely_pathogenic | 0.9444 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/L | 0.9625 | likely_pathogenic | 0.9497 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/M | 0.9764 | likely_pathogenic | 0.967 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/N | 0.8911 | likely_pathogenic | 0.8462 | pathogenic | -0.319 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/P | 0.9978 | likely_pathogenic | 0.9977 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/Q | 0.9069 | likely_pathogenic | 0.8686 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/R | 0.9102 | likely_pathogenic | 0.8791 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.894 | deleterious | D | 0.605449265 | None | None | I |
| G/S | 0.536 | ambiguous | 0.486 | ambiguous | -0.401 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.572603326 | None | None | I |
| G/T | 0.9089 | likely_pathogenic | 0.8837 | pathogenic | -0.521 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/V | 0.9643 | likely_pathogenic | 0.9544 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.606054678 | None | None | I |
| G/W | 0.9679 | likely_pathogenic | 0.9594 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/Y | 0.9713 | likely_pathogenic | 0.9606 | pathogenic | -0.849 | Destabilizing | 1.0 | D | 0.862 | 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.