Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24782 | 74569;74570;74571 | chr2:178571788;178571787;178571786 | chr2:179436515;179436514;179436513 |
| N2AB | 23141 | 69646;69647;69648 | chr2:178571788;178571787;178571786 | chr2:179436515;179436514;179436513 |
| N2A | 22214 | 66865;66866;66867 | chr2:178571788;178571787;178571786 | chr2:179436515;179436514;179436513 |
| N2B | 15717 | 47374;47375;47376 | chr2:178571788;178571787;178571786 | chr2:179436515;179436514;179436513 |
| Novex-1 | 15842 | 47749;47750;47751 | chr2:178571788;178571787;178571786 | chr2:179436515;179436514;179436513 |
| Novex-2 | 15909 | 47950;47951;47952 | chr2:178571788;178571787;178571786 | chr2:179436515;179436514;179436513 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs1463579400  |
None | 1.0 | D | 0.574 | 0.702 | 0.556695477184 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 1.31079E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/E | rs1463579400 |
None | 1.0 | D | 0.574 | 0.702 | 0.556695477184 | gnomAD-4.0.0 | 5.1274E-06 | None | None | None | None | N | None | 0 | 6.78127E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/G | rs1708279198 |
None | 1.0 | D | 0.769 | 0.876 | 0.665323958199 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| D/G | rs1708279198 |
None | 1.0 | D | 0.769 | 0.876 | 0.665323958199 | gnomAD-4.0.0 | 6.57583E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9919 | likely_pathogenic | 0.9903 | pathogenic | 0.215 | Stabilizing | 1.0 | D | 0.838 | deleterious | D | 0.656409381 | None | None | N |
| D/C | 0.998 | likely_pathogenic | 0.9976 | pathogenic | 0.191 | Stabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| D/E | 0.977 | likely_pathogenic | 0.9737 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.574 | neutral | D | 0.617820046 | None | None | N |
| D/F | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | 0.793 | Stabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | N |
| D/G | 0.9888 | likely_pathogenic | 0.9878 | pathogenic | -0.256 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.656611185 | None | None | N |
| D/H | 0.9842 | likely_pathogenic | 0.9812 | pathogenic | 0.341 | Stabilizing | 1.0 | D | 0.833 | deleterious | D | 0.546302615 | None | None | N |
| D/I | 0.9975 | likely_pathogenic | 0.9968 | pathogenic | 1.484 | Stabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| D/K | 0.998 | likely_pathogenic | 0.9977 | pathogenic | -0.142 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| D/L | 0.9967 | likely_pathogenic | 0.996 | pathogenic | 1.484 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/M | 0.9987 | likely_pathogenic | 0.9983 | pathogenic | 1.933 | Stabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| D/N | 0.9579 | likely_pathogenic | 0.9466 | pathogenic | -0.861 | Destabilizing | 1.0 | D | 0.778 | deleterious | D | 0.603718723 | None | None | N |
| D/P | 0.9996 | likely_pathogenic | 0.9996 | pathogenic | 1.091 | Stabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | N |
| D/Q | 0.9979 | likely_pathogenic | 0.9975 | pathogenic | -0.515 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/R | 0.9984 | likely_pathogenic | 0.9982 | pathogenic | -0.131 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/S | 0.9878 | likely_pathogenic | 0.9848 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/T | 0.9962 | likely_pathogenic | 0.9953 | pathogenic | -0.744 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| D/V | 0.9927 | likely_pathogenic | 0.9908 | pathogenic | 1.091 | Stabilizing | 1.0 | D | 0.843 | deleterious | D | 0.657014794 | None | None | N |
| D/W | 0.9995 | likely_pathogenic | 0.9994 | pathogenic | 0.772 | Stabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| D/Y | 0.9816 | likely_pathogenic | 0.9764 | pathogenic | 1.022 | Stabilizing | 1.0 | D | 0.856 | deleterious | D | 0.65681299 | 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.