Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15805 | 47638;47639;47640 | chr2:178617938;178617937;178617936 | chr2:179482665;179482664;179482663 |
| N2AB | 14164 | 42715;42716;42717 | chr2:178617938;178617937;178617936 | chr2:179482665;179482664;179482663 |
| N2A | 13237 | 39934;39935;39936 | chr2:178617938;178617937;178617936 | chr2:179482665;179482664;179482663 |
| N2B | 6740 | 20443;20444;20445 | chr2:178617938;178617937;178617936 | chr2:179482665;179482664;179482663 |
| Novex-1 | 6865 | 20818;20819;20820 | chr2:178617938;178617937;178617936 | chr2:179482665;179482664;179482663 |
| Novex-2 | 6932 | 21019;21020;21021 | chr2:178617938;178617937;178617936 | chr2:179482665;179482664;179482663 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | rs952794266  |
-1.033 | 1.0 | D | 0.683 | 0.602 | 0.417843521124 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| W/C | rs952794266 |
-1.033 | 1.0 | D | 0.683 | 0.602 | 0.417843521124 | gnomAD-4.0.0 | 1.59332E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8627E-06 | 0 | 0 |
| W/G | None | None | 1.0 | D | 0.647 | 0.647 | 0.478451964739 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 1.01626E-03 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| W/L | None | None | 1.0 | D | 0.647 | 0.518 | 0.689322686803 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9957 | likely_pathogenic | 0.9964 | pathogenic | -3.12 | Highly Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| W/C | 0.9983 | likely_pathogenic | 0.9982 | pathogenic | -1.349 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | D | 0.700722242 | None | None | I |
| W/D | 0.9982 | likely_pathogenic | 0.9985 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | I |
| W/E | 0.9984 | likely_pathogenic | 0.9988 | pathogenic | -1.784 | Destabilizing | 1.0 | D | 0.742 | deleterious | None | None | None | None | I |
| W/F | 0.799 | likely_pathogenic | 0.7976 | pathogenic | -1.984 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | I |
| W/G | 0.9799 | likely_pathogenic | 0.9821 | pathogenic | -3.3 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.714911329 | None | None | I |
| W/H | 0.995 | likely_pathogenic | 0.995 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| W/I | 0.9946 | likely_pathogenic | 0.9953 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| W/K | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -1.542 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | I |
| W/L | 0.9841 | likely_pathogenic | 0.9865 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.647 | neutral | D | 0.672492469 | None | None | I |
| W/M | 0.9944 | likely_pathogenic | 0.995 | pathogenic | -1.884 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| W/N | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| W/P | 0.997 | likely_pathogenic | 0.9978 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| W/Q | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.896 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | I |
| W/R | 0.9989 | likely_pathogenic | 0.999 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | D | 0.686185997 | None | None | I |
| W/S | 0.9925 | likely_pathogenic | 0.9933 | pathogenic | -2.28 | Highly Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.659083587 | None | None | I |
| W/T | 0.9937 | likely_pathogenic | 0.9953 | pathogenic | -2.173 | Highly Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| W/V | 0.9933 | likely_pathogenic | 0.9944 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| W/Y | 0.9215 | likely_pathogenic | 0.9094 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.557 | neutral | 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.