Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26905 | 80938;80939;80940 | chr2:178565419;178565418;178565417 | chr2:179430146;179430145;179430144 |
| N2AB | 25264 | 76015;76016;76017 | chr2:178565419;178565418;178565417 | chr2:179430146;179430145;179430144 |
| N2A | 24337 | 73234;73235;73236 | chr2:178565419;178565418;178565417 | chr2:179430146;179430145;179430144 |
| N2B | 17840 | 53743;53744;53745 | chr2:178565419;178565418;178565417 | chr2:179430146;179430145;179430144 |
| Novex-1 | 17965 | 54118;54119;54120 | chr2:178565419;178565418;178565417 | chr2:179430146;179430145;179430144 |
| Novex-2 | 18032 | 54319;54320;54321 | chr2:178565419;178565418;178565417 | chr2:179430146;179430145;179430144 |
| 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 | rs772844758  |
-0.781 | 0.999 | D | 0.771 | 0.871 | 0.81387883301 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 9.95E-05 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/R | rs772844758 |
-0.781 | 0.999 | D | 0.771 | 0.871 | 0.81387883301 | gnomAD-4.0.0 | 1.59195E-06 | None | None | None | None | I | None | 0 | 0 | None | 4.76963E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs772844758 |
-1.025 | 0.997 | D | 0.795 | 0.868 | 0.585504228005 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| G/S | rs772844758 |
-1.025 | 0.997 | D | 0.795 | 0.868 | 0.585504228005 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs772844758 |
-1.025 | 0.997 | D | 0.795 | 0.868 | 0.585504228005 | gnomAD-4.0.0 | 6.40897E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.19695E-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 | 0.6892 | likely_pathogenic | 0.6614 | pathogenic | -0.54 | Destabilizing | 0.604 | D | 0.542 | neutral | D | 0.538159005 | None | None | I |
| G/C | 0.9473 | likely_pathogenic | 0.9357 | pathogenic | -0.768 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | D | 0.662992149 | None | None | I |
| G/D | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.065 | Destabilizing | 0.999 | D | 0.801 | deleterious | D | 0.619991686 | None | None | I |
| G/E | 0.9977 | likely_pathogenic | 0.997 | pathogenic | -1.175 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | I |
| G/F | 0.9967 | likely_pathogenic | 0.9964 | pathogenic | -0.993 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | I |
| G/H | 0.9987 | likely_pathogenic | 0.9985 | pathogenic | -1.116 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| G/I | 0.9948 | likely_pathogenic | 0.9942 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/K | 0.9991 | likely_pathogenic | 0.9988 | pathogenic | -1.315 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | I |
| G/L | 0.9937 | likely_pathogenic | 0.9927 | pathogenic | -0.385 | Destabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | I |
| G/M | 0.9979 | likely_pathogenic | 0.9973 | pathogenic | -0.342 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| G/N | 0.9977 | likely_pathogenic | 0.9969 | pathogenic | -0.855 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | I |
| G/P | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -0.398 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | I |
| G/Q | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/R | 0.9948 | likely_pathogenic | 0.9936 | pathogenic | -0.897 | Destabilizing | 0.999 | D | 0.771 | deleterious | D | 0.66258854 | None | None | I |
| G/S | 0.8424 | likely_pathogenic | 0.8056 | pathogenic | -0.994 | Destabilizing | 0.997 | D | 0.795 | deleterious | D | 0.62019349 | None | None | I |
| G/T | 0.9829 | likely_pathogenic | 0.9775 | pathogenic | -1.042 | Destabilizing | 0.999 | D | 0.758 | deleterious | None | None | None | None | I |
| G/V | 0.9869 | likely_pathogenic | 0.9845 | pathogenic | -0.398 | Destabilizing | 0.997 | D | 0.763 | deleterious | D | 0.646337015 | None | None | I |
| G/W | 0.996 | likely_pathogenic | 0.9953 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | I |
| G/Y | 0.9972 | likely_pathogenic | 0.9967 | pathogenic | -0.928 | Destabilizing | 1.0 | D | 0.756 | 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.