Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33373 | 100342;100343;100344 | chr2:178536992;178536991;178536990 | chr2:179401719;179401718;179401717 |
| N2AB | 31732 | 95419;95420;95421 | chr2:178536992;178536991;178536990 | chr2:179401719;179401718;179401717 |
| N2A | 30805 | 92638;92639;92640 | chr2:178536992;178536991;178536990 | chr2:179401719;179401718;179401717 |
| N2B | 24308 | 73147;73148;73149 | chr2:178536992;178536991;178536990 | chr2:179401719;179401718;179401717 |
| Novex-1 | 24433 | 73522;73523;73524 | chr2:178536992;178536991;178536990 | chr2:179401719;179401718;179401717 |
| Novex-2 | 24500 | 73723;73724;73725 | chr2:178536992;178536991;178536990 | chr2:179401719;179401718;179401717 |
| 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/A | None | None | 1.0 | D | 0.75 | 0.631 | 0.490144168196 | gnomAD-4.0.0 | 1.59262E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86015E-06 | 0 | 0 |
| G/S | rs55880786  |
-0.821 | 1.0 | D | 0.857 | 0.666 | None | gnomAD-2.1.1 | 3.23E-05 | None | None | None | None | I | None | 0 | 2.91E-05 | None | 0 | 5.59E-05 | None | 9.86E-05 | None | 0 | 2.67E-05 | 0 |
| G/S | rs55880786 |
-0.821 | 1.0 | D | 0.857 | 0.666 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 2.94E-05 | 0 | 4.78469E-04 |
| G/S | rs55880786 |
-0.821 | 1.0 | D | 0.857 | 0.666 | None | gnomAD-4.0.0 | 2.35552E-05 | None | None | None | None | I | None | 0 | 1.668E-05 | None | 0 | 0 | None | 0 | 8.25627E-04 | 2.28903E-05 | 3.29815E-05 | 3.20246E-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 | 0.9144 | likely_pathogenic | 0.9255 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.75 | deleterious | D | 0.562790157 | None | None | I |
| G/C | 0.9691 | likely_pathogenic | 0.9693 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.869 | deleterious | D | 0.564057604 | None | None | I |
| G/D | 0.9779 | likely_pathogenic | 0.9807 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.917 | deleterious | D | 0.54067343 | None | None | I |
| G/E | 0.9894 | likely_pathogenic | 0.9901 | pathogenic | -0.933 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/F | 0.9958 | likely_pathogenic | 0.9964 | pathogenic | -1.154 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | I |
| G/H | 0.9954 | likely_pathogenic | 0.9955 | pathogenic | -0.869 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/I | 0.9965 | likely_pathogenic | 0.9965 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/K | 0.9974 | likely_pathogenic | 0.9969 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/L | 0.994 | likely_pathogenic | 0.9944 | pathogenic | -0.592 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/M | 0.9977 | likely_pathogenic | 0.9978 | pathogenic | -0.514 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | I |
| G/N | 0.9894 | likely_pathogenic | 0.9889 | pathogenic | -0.685 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9993 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/Q | 0.9912 | likely_pathogenic | 0.9909 | pathogenic | -0.988 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | I |
| G/R | 0.9882 | likely_pathogenic | 0.9871 | pathogenic | -0.576 | Destabilizing | 1.0 | D | 0.921 | deleterious | D | 0.545192881 | None | None | I |
| G/S | 0.8685 | likely_pathogenic | 0.8645 | pathogenic | -0.915 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.551180362 | None | None | I |
| G/T | 0.9857 | likely_pathogenic | 0.9858 | pathogenic | -0.98 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | I |
| G/V | 0.9927 | likely_pathogenic | 0.9924 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.562790157 | None | None | I |
| G/W | 0.9917 | likely_pathogenic | 0.9928 | pathogenic | -1.305 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | I |
| G/Y | 0.994 | likely_pathogenic | 0.9949 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.891 | 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.