Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30014 | 90265;90266;90267 | chr2:178552860;178552859;178552858 | chr2:179417587;179417586;179417585 |
| N2AB | 28373 | 85342;85343;85344 | chr2:178552860;178552859;178552858 | chr2:179417587;179417586;179417585 |
| N2A | 27446 | 82561;82562;82563 | chr2:178552860;178552859;178552858 | chr2:179417587;179417586;179417585 |
| N2B | 20949 | 63070;63071;63072 | chr2:178552860;178552859;178552858 | chr2:179417587;179417586;179417585 |
| Novex-1 | 21074 | 63445;63446;63447 | chr2:178552860;178552859;178552858 | chr2:179417587;179417586;179417585 |
| Novex-2 | 21141 | 63646;63647;63648 | chr2:178552860;178552859;178552858 | chr2:179417587;179417586;179417585 |
| 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 | rs1359003253  |
-0.753 | 1.0 | D | 0.896 | 0.742 | 0.828329613222 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| G/E | rs1359003253 |
-0.753 | 1.0 | D | 0.896 | 0.742 | 0.828329613222 | gnomAD-4.0.0 | 2.25791E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.87823E-05 | 0 | 1.6564E-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 | 0.8923 | likely_pathogenic | 0.8264 | pathogenic | -0.7 | Destabilizing | 1.0 | D | 0.745 | deleterious | D | 0.564025286 | None | None | I |
| G/C | 0.9581 | likely_pathogenic | 0.9286 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/D | 0.9754 | likely_pathogenic | 0.9612 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/E | 0.9874 | likely_pathogenic | 0.9789 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.896 | deleterious | D | 0.575381592 | None | None | I |
| G/F | 0.9942 | likely_pathogenic | 0.9905 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/H | 0.9932 | likely_pathogenic | 0.9886 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/I | 0.9942 | likely_pathogenic | 0.9894 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/K | 0.9932 | likely_pathogenic | 0.9888 | pathogenic | -1.246 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | I |
| G/L | 0.991 | likely_pathogenic | 0.9862 | pathogenic | -0.638 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| G/M | 0.9953 | likely_pathogenic | 0.9918 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/N | 0.9816 | likely_pathogenic | 0.9724 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.9983 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | I |
| G/Q | 0.987 | likely_pathogenic | 0.9795 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.903 | deleterious | None | None | None | None | I |
| G/R | 0.979 | likely_pathogenic | 0.9656 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.557695411 | None | None | I |
| G/S | 0.8096 | likely_pathogenic | 0.7273 | pathogenic | -1.095 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| G/T | 0.9663 | likely_pathogenic | 0.9472 | pathogenic | -1.159 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/V | 0.9879 | likely_pathogenic | 0.979 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.541819655 | None | None | I |
| G/W | 0.9904 | likely_pathogenic | 0.9824 | pathogenic | -1.364 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/Y | 0.9911 | likely_pathogenic | 0.985 | pathogenic | -1.038 | Destabilizing | 1.0 | D | 0.879 | 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.