Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19661 | 59206;59207;59208 | chr2:178593227;178593226;178593225 | chr2:179457954;179457953;179457952 |
| N2AB | 18020 | 54283;54284;54285 | chr2:178593227;178593226;178593225 | chr2:179457954;179457953;179457952 |
| N2A | 17093 | 51502;51503;51504 | chr2:178593227;178593226;178593225 | chr2:179457954;179457953;179457952 |
| N2B | 10596 | 32011;32012;32013 | chr2:178593227;178593226;178593225 | chr2:179457954;179457953;179457952 |
| Novex-1 | 10721 | 32386;32387;32388 | chr2:178593227;178593226;178593225 | chr2:179457954;179457953;179457952 |
| Novex-2 | 10788 | 32587;32588;32589 | chr2:178593227;178593226;178593225 | chr2:179457954;179457953;179457952 |
| 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/D | rs397517640  |
-0.465 | 1.0 | D | 0.935 | 0.616 | 0.609492077976 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | I | None | 4.13E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 5.48E-05 | 0 |
| G/D | rs397517640 |
-0.465 | 1.0 | D | 0.935 | 0.616 | 0.609492077976 | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | I | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| G/D | rs397517640 |
-0.465 | 1.0 | D | 0.935 | 0.616 | 0.609492077976 | gnomAD-4.0.0 | 1.85957E-05 | None | None | None | None | I | None | 2.6708E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.37369E-05 | 0 | 0 |
| G/S | None | None | 1.0 | D | 0.883 | 0.622 | 0.568997365865 | gnomAD-4.0.0 | 3.18415E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71883E-06 | 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 | 0.877 | likely_pathogenic | 0.839 | pathogenic | -0.613 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.558510969 | None | None | I |
| G/C | 0.9407 | likely_pathogenic | 0.9206 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.571134722 | None | None | I |
| G/D | 0.9682 | likely_pathogenic | 0.953 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.935 | deleterious | D | 0.541167183 | None | None | I |
| G/E | 0.9839 | likely_pathogenic | 0.9768 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | I |
| G/F | 0.9928 | likely_pathogenic | 0.9894 | pathogenic | -1.129 | Destabilizing | 1.0 | D | 0.908 | deleterious | None | None | None | None | I |
| G/H | 0.9895 | likely_pathogenic | 0.9847 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | I |
| G/I | 0.9914 | likely_pathogenic | 0.988 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/K | 0.9882 | likely_pathogenic | 0.9845 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/L | 0.9887 | likely_pathogenic | 0.9841 | pathogenic | -0.568 | Destabilizing | 1.0 | D | 0.899 | deleterious | None | None | None | None | I |
| G/M | 0.9937 | likely_pathogenic | 0.9905 | pathogenic | -0.51 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | I |
| G/N | 0.9799 | likely_pathogenic | 0.9713 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/P | 0.9983 | likely_pathogenic | 0.9979 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/Q | 0.9815 | likely_pathogenic | 0.9747 | pathogenic | -1.09 | Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | I |
| G/R | 0.9648 | likely_pathogenic | 0.9544 | pathogenic | -0.679 | Destabilizing | 1.0 | D | 0.934 | deleterious | D | 0.552269999 | None | None | I |
| G/S | 0.7998 | likely_pathogenic | 0.7394 | pathogenic | -0.99 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.55825748 | None | None | I |
| G/T | 0.9604 | likely_pathogenic | 0.9456 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | I |
| G/V | 0.9836 | likely_pathogenic | 0.9774 | pathogenic | -0.546 | Destabilizing | 1.0 | D | 0.91 | deleterious | D | 0.547154664 | None | None | I |
| G/W | 0.9833 | likely_pathogenic | 0.9767 | pathogenic | -1.315 | Destabilizing | 1.0 | D | 0.896 | deleterious | None | None | None | None | I |
| G/Y | 0.9882 | likely_pathogenic | 0.9833 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.907 | 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.