Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21885 | 65878;65879;65880 | chr2:178583150;178583149;178583148 | chr2:179447877;179447876;179447875 |
| N2AB | 20244 | 60955;60956;60957 | chr2:178583150;178583149;178583148 | chr2:179447877;179447876;179447875 |
| N2A | 19317 | 58174;58175;58176 | chr2:178583150;178583149;178583148 | chr2:179447877;179447876;179447875 |
| N2B | 12820 | 38683;38684;38685 | chr2:178583150;178583149;178583148 | chr2:179447877;179447876;179447875 |
| Novex-1 | 12945 | 39058;39059;39060 | chr2:178583150;178583149;178583148 | chr2:179447877;179447876;179447875 |
| Novex-2 | 13012 | 39259;39260;39261 | chr2:178583150;178583149;178583148 | chr2:179447877;179447876;179447875 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs766178095  |
-0.443 | 1.0 | N | 0.872 | 0.43 | 0.448399296293 | gnomAD-2.1.1 | 7.19E-06 | None | None | None | None | N | None | 8.29E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/P | rs766178095 |
-0.443 | 1.0 | N | 0.872 | 0.43 | 0.448399296293 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs766178095 |
-0.443 | 1.0 | N | 0.872 | 0.43 | 0.448399296293 | gnomAD-4.0.0 | 1.3153E-05 | None | None | None | None | N | None | 4.82719E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7146 | likely_pathogenic | 0.7023 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/D | 0.9948 | likely_pathogenic | 0.9938 | pathogenic | -0.781 | Destabilizing | 0.999 | D | 0.905 | deleterious | N | 0.483141666 | None | None | N |
| A/E | 0.994 | likely_pathogenic | 0.9927 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| A/F | 0.9303 | likely_pathogenic | 0.9078 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.928 | deleterious | None | None | None | None | N |
| A/G | 0.3382 | likely_benign | 0.3268 | benign | -1.088 | Destabilizing | 0.434 | N | 0.4 | neutral | N | 0.453427616 | None | None | N |
| A/H | 0.994 | likely_pathogenic | 0.9931 | pathogenic | -1.222 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| A/I | 0.7746 | likely_pathogenic | 0.7228 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/K | 0.9965 | likely_pathogenic | 0.996 | pathogenic | -1.01 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| A/L | 0.7634 | likely_pathogenic | 0.7194 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/M | 0.802 | likely_pathogenic | 0.7601 | pathogenic | -0.257 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/N | 0.9858 | likely_pathogenic | 0.9837 | pathogenic | -0.695 | Destabilizing | 1.0 | D | 0.906 | deleterious | None | None | None | None | N |
| A/P | 0.9942 | likely_pathogenic | 0.9927 | pathogenic | -0.438 | Destabilizing | 1.0 | D | 0.872 | deleterious | N | 0.483141666 | None | None | N |
| A/Q | 0.9865 | likely_pathogenic | 0.9853 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.9902 | likely_pathogenic | 0.9891 | pathogenic | -0.703 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/S | 0.4218 | ambiguous | 0.407 | ambiguous | -1.084 | Destabilizing | 0.996 | D | 0.711 | prob.delet. | N | 0.471278382 | None | None | N |
| A/T | 0.4393 | ambiguous | 0.3955 | ambiguous | -1.008 | Destabilizing | 0.999 | D | 0.865 | deleterious | N | 0.455883152 | None | None | N |
| A/V | 0.4287 | ambiguous | 0.3852 | ambiguous | -0.438 | Destabilizing | 0.999 | D | 0.806 | deleterious | N | 0.453493456 | None | None | N |
| A/W | 0.9975 | likely_pathogenic | 0.9967 | pathogenic | -1.322 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| A/Y | 0.9837 | likely_pathogenic | 0.98 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.932 | 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.