Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20005 | 60238;60239;60240 | chr2:178591806;178591805;178591804 | chr2:179456533;179456532;179456531 |
| N2AB | 18364 | 55315;55316;55317 | chr2:178591806;178591805;178591804 | chr2:179456533;179456532;179456531 |
| N2A | 17437 | 52534;52535;52536 | chr2:178591806;178591805;178591804 | chr2:179456533;179456532;179456531 |
| N2B | 10940 | 33043;33044;33045 | chr2:178591806;178591805;178591804 | chr2:179456533;179456532;179456531 |
| Novex-1 | 11065 | 33418;33419;33420 | chr2:178591806;178591805;178591804 | chr2:179456533;179456532;179456531 |
| Novex-2 | 11132 | 33619;33620;33621 | chr2:178591806;178591805;178591804 | chr2:179456533;179456532;179456531 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs1280304121  |
None | 1.0 | N | 0.725 | 0.489 | 0.393623145366 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| G/A | rs1280304121 |
None | 1.0 | N | 0.725 | 0.489 | 0.393623145366 | gnomAD-4.0.0 | 6.57497E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07125E-04 | 0 |
| G/D | rs1280304121 |
-0.581 | 1.0 | N | 0.834 | 0.519 | 0.416075642716 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 8.92E-06 | 0 |
| G/D | rs1280304121 |
-0.581 | 1.0 | N | 0.834 | 0.519 | 0.416075642716 | gnomAD-4.0.0 | 4.10644E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79921E-06 | 4.63843E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9054 | likely_pathogenic | 0.9312 | pathogenic | -0.321 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.513818265 | None | None | I |
| G/C | 0.963 | likely_pathogenic | 0.9747 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.832 | deleterious | D | 0.530227453 | None | None | I |
| G/D | 0.9903 | likely_pathogenic | 0.9931 | pathogenic | -0.661 | Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.505322342 | None | None | I |
| G/E | 0.9944 | likely_pathogenic | 0.9955 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/F | 0.9955 | likely_pathogenic | 0.9967 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/H | 0.9945 | likely_pathogenic | 0.9961 | pathogenic | -0.632 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/I | 0.9957 | likely_pathogenic | 0.9966 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/K | 0.9953 | likely_pathogenic | 0.9957 | pathogenic | -0.843 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/L | 0.9934 | likely_pathogenic | 0.9952 | pathogenic | -0.411 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/M | 0.9959 | likely_pathogenic | 0.9969 | pathogenic | -0.371 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/N | 0.9853 | likely_pathogenic | 0.9897 | pathogenic | -0.456 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/Q | 0.9921 | likely_pathogenic | 0.9935 | pathogenic | -0.76 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | I |
| G/R | 0.982 | likely_pathogenic | 0.9847 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.875 | deleterious | N | 0.49635912 | None | None | I |
| G/S | 0.8699 | likely_pathogenic | 0.9086 | pathogenic | -0.608 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.507208446 | None | None | I |
| G/T | 0.9845 | likely_pathogenic | 0.9885 | pathogenic | -0.699 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/V | 0.9918 | likely_pathogenic | 0.994 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.861 | deleterious | N | 0.518453074 | None | None | I |
| G/W | 0.9876 | likely_pathogenic | 0.9905 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/Y | 0.9926 | likely_pathogenic | 0.9947 | pathogenic | -0.859 | Destabilizing | 1.0 | D | 0.83 | deleterious | 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.