Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28188 | 84787;84788;84789 | chr2:178561570;178561569;178561568 | chr2:179426297;179426296;179426295 |
| N2AB | 26547 | 79864;79865;79866 | chr2:178561570;178561569;178561568 | chr2:179426297;179426296;179426295 |
| N2A | 25620 | 77083;77084;77085 | chr2:178561570;178561569;178561568 | chr2:179426297;179426296;179426295 |
| N2B | 19123 | 57592;57593;57594 | chr2:178561570;178561569;178561568 | chr2:179426297;179426296;179426295 |
| Novex-1 | 19248 | 57967;57968;57969 | chr2:178561570;178561569;178561568 | chr2:179426297;179426296;179426295 |
| Novex-2 | 19315 | 58168;58169;58170 | chr2:178561570;178561569;178561568 | chr2:179426297;179426296;179426295 |
| 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 | None | None | 1.0 | N | 0.667 | 0.466 | 0.490419987736 | gnomAD-4.0.0 | 1.59265E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86013E-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 | 0.7091 | likely_pathogenic | 0.7136 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.596 | neutral | N | 0.502558227 | None | None | N |
| G/C | 0.9346 | likely_pathogenic | 0.9307 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.809 | deleterious | N | 0.517170217 | None | None | N |
| G/D | 0.9898 | likely_pathogenic | 0.9874 | pathogenic | -1.834 | Destabilizing | 1.0 | D | 0.84 | deleterious | N | 0.50412839 | None | None | N |
| G/E | 0.9944 | likely_pathogenic | 0.994 | pathogenic | -1.753 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| G/F | 0.9958 | likely_pathogenic | 0.9952 | pathogenic | -0.709 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/H | 0.9929 | likely_pathogenic | 0.9913 | pathogenic | -1.731 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| G/I | 0.9965 | likely_pathogenic | 0.9959 | pathogenic | 0.094 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/K | 0.9963 | likely_pathogenic | 0.9956 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/L | 0.994 | likely_pathogenic | 0.9939 | pathogenic | 0.094 | Stabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| G/M | 0.9966 | likely_pathogenic | 0.9963 | pathogenic | 0.067 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/N | 0.9806 | likely_pathogenic | 0.9781 | pathogenic | -1.195 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| G/Q | 0.9909 | likely_pathogenic | 0.9897 | pathogenic | -1.169 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/R | 0.9832 | likely_pathogenic | 0.9813 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.881 | deleterious | N | 0.502860942 | None | None | N |
| G/S | 0.7171 | likely_pathogenic | 0.7162 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.667 | neutral | N | 0.473462834 | None | None | N |
| G/T | 0.9772 | likely_pathogenic | 0.9759 | pathogenic | -1.294 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/V | 0.9911 | likely_pathogenic | 0.9899 | pathogenic | -0.129 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.545363329 | None | None | N |
| G/W | 0.992 | likely_pathogenic | 0.9907 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/Y | 0.99 | likely_pathogenic | 0.9885 | pathogenic | -0.88 | Destabilizing | 1.0 | D | 0.853 | 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.