Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18675 | 56248;56249;56250 | chr2:178600881;178600880;178600879 | chr2:179465608;179465607;179465606 |
| N2AB | 17034 | 51325;51326;51327 | chr2:178600881;178600880;178600879 | chr2:179465608;179465607;179465606 |
| N2A | 16107 | 48544;48545;48546 | chr2:178600881;178600880;178600879 | chr2:179465608;179465607;179465606 |
| N2B | 9610 | 29053;29054;29055 | chr2:178600881;178600880;178600879 | chr2:179465608;179465607;179465606 |
| Novex-1 | 9735 | 29428;29429;29430 | chr2:178600881;178600880;178600879 | chr2:179465608;179465607;179465606 |
| Novex-2 | 9802 | 29629;29630;29631 | chr2:178600881;178600880;178600879 | chr2:179465608;179465607;179465606 |
| 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/C | rs1478453765  |
-0.721 | 1.0 | N | 0.855 | 0.384 | 0.745503425957 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.29719E-04 | 0 |
| G/C | rs1478453765 |
-0.721 | 1.0 | N | 0.855 | 0.384 | 0.745503425957 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.89E-05 | 0 | 0 |
| G/C | rs1478453765 |
-0.721 | 1.0 | N | 0.855 | 0.384 | 0.745503425957 | gnomAD-4.0.0 | 2.63186E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.88599E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4493 | ambiguous | 0.4339 | ambiguous | -0.451 | Destabilizing | 0.963 | D | 0.653 | prob.neutral | N | 0.490673338 | None | None | N |
| G/C | 0.7115 | likely_pathogenic | 0.6793 | pathogenic | -0.867 | Destabilizing | 1.0 | D | 0.855 | deleterious | N | 0.49279704 | None | None | N |
| G/D | 0.8451 | likely_pathogenic | 0.8397 | pathogenic | -0.956 | Destabilizing | 0.999 | D | 0.815 | deleterious | N | 0.467567192 | None | None | N |
| G/E | 0.8219 | likely_pathogenic | 0.8102 | pathogenic | -1.05 | Destabilizing | 0.998 | D | 0.845 | deleterious | None | None | None | None | N |
| G/F | 0.8769 | likely_pathogenic | 0.8584 | pathogenic | -0.905 | Destabilizing | 0.999 | D | 0.908 | deleterious | None | None | None | None | N |
| G/H | 0.9301 | likely_pathogenic | 0.9182 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.7595 | likely_pathogenic | 0.7538 | pathogenic | -0.266 | Destabilizing | 0.992 | D | 0.841 | deleterious | None | None | None | None | N |
| G/K | 0.9216 | likely_pathogenic | 0.9156 | pathogenic | -1.188 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | N |
| G/L | 0.7906 | likely_pathogenic | 0.7601 | pathogenic | -0.266 | Destabilizing | 0.992 | D | 0.853 | deleterious | None | None | None | None | N |
| G/M | 0.8763 | likely_pathogenic | 0.8546 | pathogenic | -0.347 | Destabilizing | 0.999 | D | 0.887 | deleterious | None | None | None | None | N |
| G/N | 0.872 | likely_pathogenic | 0.8573 | pathogenic | -0.855 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| G/P | 0.9297 | likely_pathogenic | 0.9187 | pathogenic | -0.288 | Destabilizing | 0.999 | D | 0.892 | deleterious | None | None | None | None | N |
| G/Q | 0.8796 | likely_pathogenic | 0.8585 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| G/R | 0.876 | likely_pathogenic | 0.8645 | pathogenic | -0.779 | Destabilizing | 0.997 | D | 0.893 | deleterious | N | 0.508701738 | None | None | N |
| G/S | 0.4644 | ambiguous | 0.4265 | ambiguous | -1.026 | Destabilizing | 0.997 | D | 0.761 | deleterious | N | 0.460801584 | None | None | N |
| G/T | 0.6653 | likely_pathogenic | 0.6454 | pathogenic | -1.042 | Destabilizing | 0.996 | D | 0.847 | deleterious | None | None | None | None | N |
| G/V | 0.6692 | likely_pathogenic | 0.6658 | pathogenic | -0.288 | Destabilizing | 0.465 | N | 0.681 | prob.neutral | N | 0.458332822 | None | None | N |
| G/W | 0.864 | likely_pathogenic | 0.8533 | pathogenic | -1.214 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/Y | 0.8602 | likely_pathogenic | 0.847 | pathogenic | -0.81 | Destabilizing | 0.999 | D | 0.907 | 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.