Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26707 | 80344;80345;80346 | chr2:178566013;178566012;178566011 | chr2:179430740;179430739;179430738 |
| N2AB | 25066 | 75421;75422;75423 | chr2:178566013;178566012;178566011 | chr2:179430740;179430739;179430738 |
| N2A | 24139 | 72640;72641;72642 | chr2:178566013;178566012;178566011 | chr2:179430740;179430739;179430738 |
| N2B | 17642 | 53149;53150;53151 | chr2:178566013;178566012;178566011 | chr2:179430740;179430739;179430738 |
| Novex-1 | 17767 | 53524;53525;53526 | chr2:178566013;178566012;178566011 | chr2:179430740;179430739;179430738 |
| Novex-2 | 17834 | 53725;53726;53727 | chr2:178566013;178566012;178566011 | chr2:179430740;179430739;179430738 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | None | None | 1.0 | D | 0.872 | 0.7 | 0.769475359402 | gnomAD-4.0.0 | 1.59183E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85948E-06 | 0 | 0 |
| P/T | None | None | 1.0 | D | 0.819 | 0.703 | None | gnomAD-4.0.0 | 1.59184E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85954E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.818 | likely_pathogenic | 0.8145 | pathogenic | -2.058 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.549570519 | None | None | N |
| P/C | 0.9767 | likely_pathogenic | 0.9808 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -2.912 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| P/E | 0.9971 | likely_pathogenic | 0.9972 | pathogenic | -2.783 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/F | 0.9992 | likely_pathogenic | 0.9994 | pathogenic | -1.325 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| P/G | 0.9847 | likely_pathogenic | 0.9847 | pathogenic | -2.495 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| P/H | 0.995 | likely_pathogenic | 0.9956 | pathogenic | -2.382 | Highly Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.561940783 | None | None | N |
| P/I | 0.9926 | likely_pathogenic | 0.9943 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| P/K | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | -1.937 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| P/L | 0.9714 | likely_pathogenic | 0.9712 | pathogenic | -0.868 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.548810051 | None | None | N |
| P/M | 0.9945 | likely_pathogenic | 0.9957 | pathogenic | -0.69 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| P/N | 0.9968 | likely_pathogenic | 0.9977 | pathogenic | -2.002 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| P/Q | 0.993 | likely_pathogenic | 0.9937 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/R | 0.995 | likely_pathogenic | 0.9949 | pathogenic | -1.567 | Destabilizing | 1.0 | D | 0.867 | deleterious | D | 0.543747622 | None | None | N |
| P/S | 0.9547 | likely_pathogenic | 0.9557 | pathogenic | -2.456 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.521337726 | None | None | N |
| P/T | 0.9635 | likely_pathogenic | 0.9699 | pathogenic | -2.223 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.549824009 | None | None | N |
| P/V | 0.9709 | likely_pathogenic | 0.9759 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9998 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Y | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -1.555 | Destabilizing | 1.0 | D | 0.863 | 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.