Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24495 | 73708;73709;73710 | chr2:178572649;178572648;178572647 | chr2:179437376;179437375;179437374 |
| N2AB | 22854 | 68785;68786;68787 | chr2:178572649;178572648;178572647 | chr2:179437376;179437375;179437374 |
| N2A | 21927 | 66004;66005;66006 | chr2:178572649;178572648;178572647 | chr2:179437376;179437375;179437374 |
| N2B | 15430 | 46513;46514;46515 | chr2:178572649;178572648;178572647 | chr2:179437376;179437375;179437374 |
| Novex-1 | 15555 | 46888;46889;46890 | chr2:178572649;178572648;178572647 | chr2:179437376;179437375;179437374 |
| Novex-2 | 15622 | 47089;47090;47091 | chr2:178572649;178572648;178572647 | chr2:179437376;179437375;179437374 |
| 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/S | rs1281920947  |
None | 1.0 | D | 0.843 | 0.716 | 0.574978667741 | gnomAD-4.0.0 | 1.36906E-06 | None | None | None | None | I | None | 0 | 0 | None | 3.83259E-05 | 0 | None | 0 | 0 | 0 | 0 | 1.65739E-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 | 0.7752 | likely_pathogenic | 0.7865 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.763 | deleterious | D | 0.602329325 | None | None | I |
| G/C | 0.928 | likely_pathogenic | 0.9352 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.637425472 | None | None | I |
| G/D | 0.9687 | likely_pathogenic | 0.9757 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.620770337 | None | None | I |
| G/E | 0.9796 | likely_pathogenic | 0.9829 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/F | 0.9942 | likely_pathogenic | 0.9955 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/H | 0.9914 | likely_pathogenic | 0.9921 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | I |
| G/I | 0.995 | likely_pathogenic | 0.9964 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| G/K | 0.989 | likely_pathogenic | 0.9903 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | I |
| G/L | 0.9895 | likely_pathogenic | 0.9913 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| G/M | 0.9928 | likely_pathogenic | 0.9944 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | I |
| G/N | 0.9733 | likely_pathogenic | 0.9779 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.9992 | likely_pathogenic | 0.9993 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | I |
| G/Q | 0.9688 | likely_pathogenic | 0.9733 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/R | 0.9642 | likely_pathogenic | 0.9681 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.637223667 | None | None | I |
| G/S | 0.6772 | likely_pathogenic | 0.7072 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.843 | deleterious | D | 0.620568533 | None | None | I |
| G/T | 0.9636 | likely_pathogenic | 0.9706 | pathogenic | -1.11 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/V | 0.9851 | likely_pathogenic | 0.9888 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.766 | deleterious | D | 0.621173946 | None | None | I |
| G/W | 0.9912 | likely_pathogenic | 0.9928 | pathogenic | -1.399 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/Y | 0.9932 | likely_pathogenic | 0.9947 | pathogenic | -0.981 | Destabilizing | 1.0 | D | 0.741 | 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.