Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30855 | 92788;92789;92790 | chr2:178549063;178549062;178549061 | chr2:179413790;179413789;179413788 |
| N2AB | 29214 | 87865;87866;87867 | chr2:178549063;178549062;178549061 | chr2:179413790;179413789;179413788 |
| N2A | 28287 | 85084;85085;85086 | chr2:178549063;178549062;178549061 | chr2:179413790;179413789;179413788 |
| N2B | 21790 | 65593;65594;65595 | chr2:178549063;178549062;178549061 | chr2:179413790;179413789;179413788 |
| Novex-1 | 21915 | 65968;65969;65970 | chr2:178549063;178549062;178549061 | chr2:179413790;179413789;179413788 |
| Novex-2 | 21982 | 66169;66170;66171 | chr2:178549063;178549062;178549061 | chr2:179413790;179413789;179413788 |
| 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/V | rs778812675  |
0.531 | 1.0 | N | 0.889 | 0.613 | 0.643054450715 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.44E-05 | 0 |
| G/V | rs778812675 |
0.531 | 1.0 | N | 0.889 | 0.613 | 0.643054450715 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/V | rs778812675 |
0.531 | 1.0 | N | 0.889 | 0.613 | 0.643054450715 | gnomAD-4.0.0 | 2.47881E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.30557E-05 | 0 | 1.60108E-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 | 0.5782 | likely_pathogenic | 0.627 | pathogenic | -0.504 | Destabilizing | 1.0 | D | 0.591 | neutral | N | 0.480107154 | None | None | N |
| G/C | 0.8476 | likely_pathogenic | 0.8972 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/D | 0.9671 | likely_pathogenic | 0.9741 | pathogenic | -1.277 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/E | 0.9774 | likely_pathogenic | 0.9816 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.883 | deleterious | N | 0.488727981 | None | None | N |
| G/F | 0.993 | likely_pathogenic | 0.9955 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/H | 0.9814 | likely_pathogenic | 0.9874 | pathogenic | -1.445 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/I | 0.9892 | likely_pathogenic | 0.9921 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/K | 0.9899 | likely_pathogenic | 0.9915 | pathogenic | -1.028 | Destabilizing | 1.0 | D | 0.884 | deleterious | None | None | None | None | N |
| G/L | 0.9868 | likely_pathogenic | 0.9905 | pathogenic | 0.193 | Stabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| G/M | 0.9916 | likely_pathogenic | 0.9945 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | N |
| G/N | 0.9552 | likely_pathogenic | 0.9695 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| G/P | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| G/Q | 0.9723 | likely_pathogenic | 0.9785 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/R | 0.9599 | likely_pathogenic | 0.9678 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.486601614 | None | None | N |
| G/S | 0.4783 | ambiguous | 0.5455 | ambiguous | -1.239 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| G/T | 0.9134 | likely_pathogenic | 0.9324 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/V | 0.9746 | likely_pathogenic | 0.9804 | pathogenic | 0.004 | Stabilizing | 1.0 | D | 0.889 | deleterious | N | 0.520216458 | None | None | N |
| G/W | 0.9815 | likely_pathogenic | 0.9877 | pathogenic | -1.245 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.543600632 | None | None | N |
| G/Y | 0.9786 | likely_pathogenic | 0.9859 | pathogenic | -0.681 | Destabilizing | 1.0 | D | 0.854 | 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.