Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9493 | 28702;28703;28704 | chr2:178709842;178709841;178709840 | chr2:179574569;179574568;179574567 |
| N2AB | 9176 | 27751;27752;27753 | chr2:178709842;178709841;178709840 | chr2:179574569;179574568;179574567 |
| N2A | 8249 | 24970;24971;24972 | chr2:178709842;178709841;178709840 | chr2:179574569;179574568;179574567 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | None | 0.916 | 0.813 | 0.718972263718 | gnomAD-4.0.0 | 4.79011E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.60259E-06 | 0 | 0 |
| P/S | None | None | 1.0 | None | 0.953 | 0.733 | 0.666594129058 | gnomAD-4.0.0 | 1.59664E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.77054E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | rs778959524  |
0.148 | 1.0 | None | 0.951 | 0.723 | 0.691255109571 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| P/T | rs778959524 |
0.148 | 1.0 | None | 0.951 | 0.723 | 0.691255109571 | gnomAD-4.0.0 | 3.1933E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41663E-04 | 0 | 0 | 3.03067E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.7946 | likely_pathogenic | 0.8609 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | N |
| P/C | 0.9899 | likely_pathogenic | 0.9945 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| P/D | 0.9994 | likely_pathogenic | 0.9997 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.954 | deleterious | None | None | None | None | N |
| P/E | 0.998 | likely_pathogenic | 0.999 | pathogenic | -0.566 | Destabilizing | 1.0 | D | 0.952 | deleterious | None | None | None | None | N |
| P/F | 0.999 | likely_pathogenic | 0.9995 | pathogenic | -1.167 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| P/G | 0.991 | likely_pathogenic | 0.9938 | pathogenic | -1.443 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| P/H | 0.9974 | likely_pathogenic | 0.9986 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.911 | deleterious | None | None | None | None | N |
| P/I | 0.9754 | likely_pathogenic | 0.9916 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| P/K | 0.9983 | likely_pathogenic | 0.9994 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.953 | deleterious | None | None | None | None | N |
| P/L | 0.9446 | likely_pathogenic | 0.9734 | pathogenic | -0.63 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| P/M | 0.9942 | likely_pathogenic | 0.9975 | pathogenic | -0.599 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | N |
| P/N | 0.9988 | likely_pathogenic | 0.9994 | pathogenic | -0.56 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | N |
| P/Q | 0.9955 | likely_pathogenic | 0.9978 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.939 | deleterious | None | None | None | None | N |
| P/R | 0.9944 | likely_pathogenic | 0.9972 | pathogenic | -0.372 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| P/S | 0.9795 | likely_pathogenic | 0.9883 | pathogenic | -1.16 | Destabilizing | 1.0 | D | 0.953 | deleterious | None | None | None | None | N |
| P/T | 0.9681 | likely_pathogenic | 0.9874 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.951 | deleterious | None | None | None | None | N |
| P/V | 0.9252 | likely_pathogenic | 0.9686 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| P/W | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| P/Y | 0.9994 | likely_pathogenic | 0.9996 | pathogenic | -0.912 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | 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.