Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21932 | 66019;66020;66021 | chr2:178583009;178583008;178583007 | chr2:179447736;179447735;179447734 |
| N2AB | 20291 | 61096;61097;61098 | chr2:178583009;178583008;178583007 | chr2:179447736;179447735;179447734 |
| N2A | 19364 | 58315;58316;58317 | chr2:178583009;178583008;178583007 | chr2:179447736;179447735;179447734 |
| N2B | 12867 | 38824;38825;38826 | chr2:178583009;178583008;178583007 | chr2:179447736;179447735;179447734 |
| Novex-1 | 12992 | 39199;39200;39201 | chr2:178583009;178583008;178583007 | chr2:179447736;179447735;179447734 |
| Novex-2 | 13059 | 39400;39401;39402 | chr2:178583009;178583008;178583007 | chr2:179447736;179447735;179447734 |
| 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 | rs373636513  |
-0.674 | 1.0 | D | 0.821 | 0.762 | 0.839466504555 | gnomAD-2.1.1 | 5.3E-05 | None | None | None | None | N | None | 0 | 2.95E-05 | None | 0 | 2.85063E-04 | None | 2.0004E-04 | None | 0 | 0 | 1.69033E-04 |
| G/R | rs373636513 |
-0.674 | 1.0 | D | 0.821 | 0.762 | 0.839466504555 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 3.88199E-04 | None | 0 | 0 | 0 | 4.1425E-04 | 0 |
| G/R | rs373636513 |
-0.674 | 1.0 | D | 0.821 | 0.762 | 0.839466504555 | gnomAD-4.0.0 | 2.11938E-05 | None | None | None | None | N | None | 0 | 1.68282E-05 | None | 0 | 1.57636E-04 | None | 0 | 0 | 0 | 2.23749E-04 | 9.66931E-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 | 0.5505 | ambiguous | 0.4937 | ambiguous | -0.832 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | D | 0.548699291 | None | None | N |
| G/C | 0.8702 | likely_pathogenic | 0.8356 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.768 | deleterious | None | None | None | None | N |
| G/D | 0.9672 | likely_pathogenic | 0.9612 | pathogenic | -1.355 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/E | 0.978 | likely_pathogenic | 0.9762 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.828 | deleterious | D | 0.63185352 | None | None | N |
| G/F | 0.9926 | likely_pathogenic | 0.9916 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/H | 0.9878 | likely_pathogenic | 0.9857 | pathogenic | -1.484 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| G/I | 0.9925 | likely_pathogenic | 0.9895 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/K | 0.9801 | likely_pathogenic | 0.9785 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/L | 0.9846 | likely_pathogenic | 0.978 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/M | 0.9884 | likely_pathogenic | 0.9834 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| G/N | 0.9716 | likely_pathogenic | 0.9653 | pathogenic | -0.992 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Q | 0.9636 | likely_pathogenic | 0.9597 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/R | 0.9419 | likely_pathogenic | 0.938 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.631651716 | None | None | N |
| G/S | 0.5911 | likely_pathogenic | 0.5493 | ambiguous | -1.316 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/T | 0.9393 | likely_pathogenic | 0.9208 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/V | 0.9748 | likely_pathogenic | 0.9668 | pathogenic | -0.446 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.615834159 | None | None | N |
| G/W | 0.9894 | likely_pathogenic | 0.9876 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| G/Y | 0.9922 | likely_pathogenic | 0.9902 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.775 | 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.