Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32087 | 96484;96485;96486 | chr2:178543885;178543884;178543883 | chr2:179408612;179408611;179408610 |
| N2AB | 30446 | 91561;91562;91563 | chr2:178543885;178543884;178543883 | chr2:179408612;179408611;179408610 |
| N2A | 29519 | 88780;88781;88782 | chr2:178543885;178543884;178543883 | chr2:179408612;179408611;179408610 |
| N2B | 23022 | 69289;69290;69291 | chr2:178543885;178543884;178543883 | chr2:179408612;179408611;179408610 |
| Novex-1 | 23147 | 69664;69665;69666 | chr2:178543885;178543884;178543883 | chr2:179408612;179408611;179408610 |
| Novex-2 | 23214 | 69865;69866;69867 | chr2:178543885;178543884;178543883 | chr2:179408612;179408611;179408610 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/S | None | None | 1.0 | D | 0.579 | 0.618 | 0.577073266457 | gnomAD-4.0.0 | 1.5915E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85879E-06 | 0 | 0 |
| A/T | rs1216183725  |
-1.911 | 1.0 | D | 0.783 | 0.642 | 0.625394633995 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/T | rs1216183725 |
-1.911 | 1.0 | D | 0.783 | 0.642 | 0.625394633995 | gnomAD-4.0.0 | 3.18299E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71759E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7805 | likely_pathogenic | 0.7715 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| A/D | 0.998 | likely_pathogenic | 0.9972 | pathogenic | -1.909 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.630178365 | None | None | N |
| A/E | 0.994 | likely_pathogenic | 0.9916 | pathogenic | -1.874 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/F | 0.9731 | likely_pathogenic | 0.9669 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| A/G | 0.3565 | ambiguous | 0.3535 | ambiguous | -1.43 | Destabilizing | 1.0 | D | 0.573 | neutral | D | 0.578930698 | None | None | N |
| A/H | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | -1.596 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/I | 0.6947 | likely_pathogenic | 0.6448 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/K | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| A/L | 0.6204 | likely_pathogenic | 0.5969 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| A/M | 0.7738 | likely_pathogenic | 0.7366 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/N | 0.994 | likely_pathogenic | 0.9913 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/P | 0.9967 | likely_pathogenic | 0.996 | pathogenic | -0.57 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.629976561 | None | None | N |
| A/Q | 0.9907 | likely_pathogenic | 0.9887 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| A/R | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| A/S | 0.5852 | likely_pathogenic | 0.5195 | ambiguous | -1.626 | Destabilizing | 1.0 | D | 0.579 | neutral | D | 0.588015479 | None | None | N |
| A/T | 0.6079 | likely_pathogenic | 0.5278 | ambiguous | -1.494 | Destabilizing | 1.0 | D | 0.783 | deleterious | D | 0.597332426 | None | None | N |
| A/V | 0.3937 | ambiguous | 0.3433 | ambiguous | -0.57 | Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.525485785 | None | None | N |
| A/W | 0.9981 | likely_pathogenic | 0.9977 | pathogenic | -1.466 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| A/Y | 0.9907 | likely_pathogenic | 0.9894 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.89 | 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.