Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3077 | 9454;9455;9456 | chr2:178768090;178768089;178768088 | chr2:179632817;179632816;179632815 |
| N2AB | 3077 | 9454;9455;9456 | chr2:178768090;178768089;178768088 | chr2:179632817;179632816;179632815 |
| N2A | 3077 | 9454;9455;9456 | chr2:178768090;178768089;178768088 | chr2:179632817;179632816;179632815 |
| N2B | 3031 | 9316;9317;9318 | chr2:178768090;178768089;178768088 | chr2:179632817;179632816;179632815 |
| Novex-1 | 3031 | 9316;9317;9318 | chr2:178768090;178768089;178768088 | chr2:179632817;179632816;179632815 |
| Novex-2 | 3031 | 9316;9317;9318 | chr2:178768090;178768089;178768088 | chr2:179632817;179632816;179632815 |
| Novex-3 | 3077 | 9454;9455;9456 | chr2:178768090;178768089;178768088 | chr2:179632817;179632816;179632815 |
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/C | None | None | 1.0 | D | 0.889 | 0.916 | 0.887454508191 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9984 | likely_pathogenic | 0.998 | pathogenic | -1.938 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| F/C | 0.9979 | likely_pathogenic | 0.9977 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.798242963 | None | None | N |
| F/D | 0.9999 | likely_pathogenic | 0.9998 | pathogenic | -2.997 | Highly Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| F/E | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -2.752 | Highly Destabilizing | 1.0 | D | 0.901 | deleterious | None | None | None | None | N |
| F/G | 0.9992 | likely_pathogenic | 0.9989 | pathogenic | -2.39 | Highly Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | N |
| F/H | 0.9989 | likely_pathogenic | 0.9988 | pathogenic | -1.682 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| F/I | 0.9719 | likely_pathogenic | 0.9632 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.6116238 | None | None | N |
| F/K | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.799 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | N |
| F/L | 0.9874 | likely_pathogenic | 0.9832 | pathogenic | -0.46 | Destabilizing | 0.999 | D | 0.686 | prob.neutral | N | 0.495802874 | None | None | N |
| F/M | 0.9766 | likely_pathogenic | 0.975 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| F/N | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.525 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| F/P | 1.0 | likely_pathogenic | 1.0 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.921 | deleterious | None | None | None | None | N |
| F/Q | 0.9997 | likely_pathogenic | 0.9996 | pathogenic | -2.238 | Highly Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| F/R | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -1.898 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| F/S | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | -2.91 | Highly Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.798242963 | None | None | N |
| F/T | 0.9994 | likely_pathogenic | 0.9992 | pathogenic | -2.534 | Highly Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| F/V | 0.9816 | likely_pathogenic | 0.9777 | pathogenic | -0.965 | Destabilizing | 1.0 | D | 0.811 | deleterious | D | 0.678753704 | None | None | N |
| F/W | 0.9734 | likely_pathogenic | 0.9707 | pathogenic | -0.034 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| F/Y | 0.901 | likely_pathogenic | 0.8923 | pathogenic | -0.368 | Destabilizing | 0.999 | D | 0.645 | neutral | D | 0.798193975 | 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.