Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28383 | 85372;85373;85374 | chr2:178560985;178560984;178560983 | chr2:179425712;179425711;179425710 |
| N2AB | 26742 | 80449;80450;80451 | chr2:178560985;178560984;178560983 | chr2:179425712;179425711;179425710 |
| N2A | 25815 | 77668;77669;77670 | chr2:178560985;178560984;178560983 | chr2:179425712;179425711;179425710 |
| N2B | 19318 | 58177;58178;58179 | chr2:178560985;178560984;178560983 | chr2:179425712;179425711;179425710 |
| Novex-1 | 19443 | 58552;58553;58554 | chr2:178560985;178560984;178560983 | chr2:179425712;179425711;179425710 |
| Novex-2 | 19510 | 58753;58754;58755 | chr2:178560985;178560984;178560983 | chr2:179425712;179425711;179425710 |
| 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/R | rs1333175409  |
-1.183 | 1.0 | D | 0.851 | 0.714 | 0.849895481816 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs1333175409 |
-1.183 | 1.0 | D | 0.851 | 0.714 | 0.849895481816 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/R | rs1333175409 |
-1.183 | 1.0 | D | 0.851 | 0.714 | 0.849895481816 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8286 | likely_pathogenic | 0.8264 | pathogenic | -0.284 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.580412972 | None | None | I |
| G/C | 0.9537 | likely_pathogenic | 0.9576 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| G/D | 0.995 | likely_pathogenic | 0.995 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/E | 0.9963 | likely_pathogenic | 0.9962 | pathogenic | -0.971 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.64432969 | None | None | I |
| G/F | 0.9959 | likely_pathogenic | 0.9962 | pathogenic | -0.929 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | I |
| G/H | 0.9985 | likely_pathogenic | 0.9985 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | I |
| G/I | 0.9932 | likely_pathogenic | 0.9939 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.836 | deleterious | None | None | None | None | I |
| G/K | 0.9984 | likely_pathogenic | 0.9983 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | I |
| G/L | 0.9939 | likely_pathogenic | 0.994 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | I |
| G/M | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -0.471 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| G/N | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/P | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/Q | 0.9969 | likely_pathogenic | 0.997 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| G/R | 0.9938 | likely_pathogenic | 0.9934 | pathogenic | -0.578 | Destabilizing | 1.0 | D | 0.851 | deleterious | D | 0.647962167 | None | None | I |
| G/S | 0.8821 | likely_pathogenic | 0.8847 | pathogenic | -0.691 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | I |
| G/T | 0.983 | likely_pathogenic | 0.9848 | pathogenic | -0.771 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/V | 0.9807 | likely_pathogenic | 0.9818 | pathogenic | -0.285 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.647962167 | None | None | I |
| G/W | 0.9946 | likely_pathogenic | 0.9946 | pathogenic | -1.148 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | D | 0.648365776 | None | None | I |
| G/Y | 0.9966 | likely_pathogenic | 0.9967 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.824 | 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.