Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3258 | 9997;9998;9999 | chr2:178764743;178764742;178764741 | chr2:179629470;179629469;179629468 |
| N2AB | 3258 | 9997;9998;9999 | chr2:178764743;178764742;178764741 | chr2:179629470;179629469;179629468 |
| N2A | 3258 | 9997;9998;9999 | chr2:178764743;178764742;178764741 | chr2:179629470;179629469;179629468 |
| N2B | 3212 | 9859;9860;9861 | chr2:178764743;178764742;178764741 | chr2:179629470;179629469;179629468 |
| Novex-1 | 3212 | 9859;9860;9861 | chr2:178764743;178764742;178764741 | chr2:179629470;179629469;179629468 |
| Novex-2 | 3212 | 9859;9860;9861 | chr2:178764743;178764742;178764741 | chr2:179629470;179629469;179629468 |
| Novex-3 | 3258 | 9997;9998;9999 | chr2:178764743;178764742;178764741 | chr2:179629470;179629469;179629468 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/I | None | None | 0.994 | D | 0.693 | 0.711 | 0.62097610211 | gnomAD-4.0.0 | 1.59075E-06 | None | None | None | None | N | None | 0 | 2.28666E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9966 | likely_pathogenic | 0.9987 | pathogenic | -2.141 | Highly Destabilizing | 0.992 | D | 0.795 | deleterious | None | None | None | None | N |
| F/C | 0.9808 | likely_pathogenic | 0.9941 | pathogenic | -1.039 | Destabilizing | 0.391 | N | 0.687 | prob.neutral | D | 0.76101889 | None | None | N |
| F/D | 0.9997 | likely_pathogenic | 0.9999 | pathogenic | -3.002 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/E | 0.9996 | likely_pathogenic | 0.9998 | pathogenic | -2.742 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| F/G | 0.9982 | likely_pathogenic | 0.9993 | pathogenic | -2.62 | Highly Destabilizing | 0.999 | D | 0.872 | deleterious | None | None | None | None | N |
| F/H | 0.995 | likely_pathogenic | 0.9982 | pathogenic | -1.79 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| F/I | 0.8568 | likely_pathogenic | 0.9296 | pathogenic | -0.569 | Destabilizing | 0.994 | D | 0.693 | prob.neutral | D | 0.553320064 | None | None | N |
| F/K | 0.9995 | likely_pathogenic | 0.9998 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| F/L | 0.9742 | likely_pathogenic | 0.989 | pathogenic | -0.569 | Destabilizing | 0.989 | D | 0.644 | neutral | N | 0.463947873 | None | None | N |
| F/M | 0.9504 | likely_pathogenic | 0.9757 | pathogenic | -0.365 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| F/N | 0.9985 | likely_pathogenic | 0.9995 | pathogenic | -2.417 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/P | 0.9999 | likely_pathogenic | 1.0 | pathogenic | -1.107 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| F/Q | 0.999 | likely_pathogenic | 0.9996 | pathogenic | -2.142 | Highly Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| F/R | 0.9983 | likely_pathogenic | 0.9993 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| F/S | 0.9976 | likely_pathogenic | 0.9994 | pathogenic | -2.846 | Highly Destabilizing | 0.998 | D | 0.847 | deleterious | D | 0.761369786 | None | None | N |
| F/T | 0.9982 | likely_pathogenic | 0.9995 | pathogenic | -2.454 | Highly Destabilizing | 0.999 | D | 0.847 | deleterious | None | None | None | None | N |
| F/V | 0.9136 | likely_pathogenic | 0.9648 | pathogenic | -1.107 | Destabilizing | 0.989 | D | 0.749 | deleterious | D | 0.632697525 | None | None | N |
| F/W | 0.957 | likely_pathogenic | 0.9779 | pathogenic | 0.034 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| F/Y | 0.6858 | likely_pathogenic | 0.8133 | pathogenic | -0.347 | Destabilizing | 0.998 | D | 0.614 | neutral | D | 0.724102032 | None | None | N |
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.