Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23661 | 71206;71207;71208 | chr2:178575151;178575150;178575149 | chr2:179439878;179439877;179439876 |
| N2AB | 22020 | 66283;66284;66285 | chr2:178575151;178575150;178575149 | chr2:179439878;179439877;179439876 |
| N2A | 21093 | 63502;63503;63504 | chr2:178575151;178575150;178575149 | chr2:179439878;179439877;179439876 |
| N2B | 14596 | 44011;44012;44013 | chr2:178575151;178575150;178575149 | chr2:179439878;179439877;179439876 |
| Novex-1 | 14721 | 44386;44387;44388 | chr2:178575151;178575150;178575149 | chr2:179439878;179439877;179439876 |
| Novex-2 | 14788 | 44587;44588;44589 | chr2:178575151;178575150;178575149 | chr2:179439878;179439877;179439876 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/L | rs1060500459  |
-0.035 | 1.0 | D | 0.686 | 0.741 | 0.691170790121 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.98E-06 | 0 |
| P/L | rs1060500459 |
-0.035 | 1.0 | D | 0.686 | 0.741 | 0.691170790121 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/L | rs1060500459 |
-0.035 | 1.0 | D | 0.686 | 0.741 | 0.691170790121 | gnomAD-4.0.0 | 1.24041E-05 | None | None | None | None | I | None | 0 | 1.66967E-05 | None | 0 | 0 | None | 0 | 0 | 1.44159E-05 | 2.19969E-05 | 0 |
| P/S | rs763795097 |
-0.122 | 1.0 | D | 0.693 | 0.76 | 0.578198000816 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.29E-05 | None | 0 | 0 | 0 |
| P/S | rs763795097 |
-0.122 | 1.0 | D | 0.693 | 0.76 | 0.578198000816 | gnomAD-4.0.0 | 3.18747E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.87002E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9777 | likely_pathogenic | 0.974 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | D | 0.558987128 | None | None | I |
| P/C | 0.9975 | likely_pathogenic | 0.997 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| P/D | 0.9941 | likely_pathogenic | 0.993 | pathogenic | -0.637 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| P/E | 0.9911 | likely_pathogenic | 0.9897 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| P/F | 0.9986 | likely_pathogenic | 0.9984 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/G | 0.9893 | likely_pathogenic | 0.987 | pathogenic | -0.936 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/H | 0.9909 | likely_pathogenic | 0.9893 | pathogenic | -0.486 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| P/I | 0.9885 | likely_pathogenic | 0.9873 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | I |
| P/K | 0.9922 | likely_pathogenic | 0.9911 | pathogenic | -0.747 | Destabilizing | 1.0 | D | 0.685 | prob.neutral | None | None | None | None | I |
| P/L | 0.968 | likely_pathogenic | 0.9655 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | D | 0.608063797 | None | None | I |
| P/M | 0.9918 | likely_pathogenic | 0.9909 | pathogenic | -0.451 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| P/N | 0.9932 | likely_pathogenic | 0.992 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| P/Q | 0.9881 | likely_pathogenic | 0.9861 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.570508018 | None | None | I |
| P/R | 0.9844 | likely_pathogenic | 0.9822 | pathogenic | -0.179 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.6331983 | None | None | I |
| P/S | 0.9918 | likely_pathogenic | 0.9902 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.551896784 | None | None | I |
| P/T | 0.9775 | likely_pathogenic | 0.9741 | pathogenic | -0.805 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.6331983 | None | None | I |
| P/V | 0.9779 | likely_pathogenic | 0.9761 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| P/W | 0.9989 | likely_pathogenic | 0.9986 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | I |
| P/Y | 0.9974 | likely_pathogenic | 0.9968 | pathogenic | -0.674 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | 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.