Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2459 | 7600;7601;7602 | chr2:178773681;178773680;178773679 | chr2:179638408;179638407;179638406 |
| N2AB | 2459 | 7600;7601;7602 | chr2:178773681;178773680;178773679 | chr2:179638408;179638407;179638406 |
| N2A | 2459 | 7600;7601;7602 | chr2:178773681;178773680;178773679 | chr2:179638408;179638407;179638406 |
| N2B | 2413 | 7462;7463;7464 | chr2:178773681;178773680;178773679 | chr2:179638408;179638407;179638406 |
| Novex-1 | 2413 | 7462;7463;7464 | chr2:178773681;178773680;178773679 | chr2:179638408;179638407;179638406 |
| Novex-2 | 2413 | 7462;7463;7464 | chr2:178773681;178773680;178773679 | chr2:179638408;179638407;179638406 |
| Novex-3 | 2459 | 7600;7601;7602 | chr2:178773681;178773680;178773679 | chr2:179638408;179638407;179638406 |
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/S | rs374967916  |
-0.807 | 1.0 | D | 0.795 | 0.77 | None | gnomAD-2.1.1 | 2.13E-05 | None | None | None | None | N | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.89E-05 | 0 |
| G/S | rs374967916 |
-0.807 | 1.0 | D | 0.795 | 0.77 | None | gnomAD-3.1.2 | 5.91E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.17612E-04 | 0 | 0 |
| G/S | rs374967916 |
-0.807 | 1.0 | D | 0.795 | 0.77 | None | gnomAD-4.0.0 | 4.08941E-05 | None | None | None | None | N | None | 1.33458E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25436E-05 | 0 | 4.80123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6172 | likely_pathogenic | 0.6167 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.756 | deleterious | D | 0.707792347 | None | None | N |
| G/C | 0.8474 | likely_pathogenic | 0.8471 | pathogenic | -0.897 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.764970069 | None | None | N |
| G/D | 0.8264 | likely_pathogenic | 0.8383 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.656523663 | None | None | N |
| G/E | 0.8909 | likely_pathogenic | 0.8981 | pathogenic | -1.026 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/F | 0.9757 | likely_pathogenic | 0.9752 | pathogenic | -1.123 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/H | 0.9588 | likely_pathogenic | 0.9627 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/I | 0.9732 | likely_pathogenic | 0.974 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/K | 0.9609 | likely_pathogenic | 0.964 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.802 | deleterious | None | None | None | None | N |
| G/L | 0.9588 | likely_pathogenic | 0.9585 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/M | 0.9544 | likely_pathogenic | 0.955 | pathogenic | -0.422 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/N | 0.8133 | likely_pathogenic | 0.8248 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/P | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/Q | 0.9339 | likely_pathogenic | 0.9381 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/R | 0.9363 | likely_pathogenic | 0.9412 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.839 | deleterious | D | 0.642085025 | None | None | N |
| G/S | 0.4705 | ambiguous | 0.4838 | ambiguous | -0.767 | Destabilizing | 1.0 | D | 0.795 | deleterious | D | 0.648299723 | None | None | N |
| G/T | 0.8325 | likely_pathogenic | 0.8412 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/V | 0.9344 | likely_pathogenic | 0.9362 | pathogenic | -0.466 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.765210259 | None | None | N |
| G/W | 0.9548 | likely_pathogenic | 0.9561 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Y | 0.9522 | likely_pathogenic | 0.9534 | pathogenic | -0.94 | Destabilizing | 1.0 | D | 0.812 | 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.