Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30489 | 91690;91691;91692 | chr2:178551066;178551065;178551064 | chr2:179415793;179415792;179415791 |
| N2AB | 28848 | 86767;86768;86769 | chr2:178551066;178551065;178551064 | chr2:179415793;179415792;179415791 |
| N2A | 27921 | 83986;83987;83988 | chr2:178551066;178551065;178551064 | chr2:179415793;179415792;179415791 |
| N2B | 21424 | 64495;64496;64497 | chr2:178551066;178551065;178551064 | chr2:179415793;179415792;179415791 |
| Novex-1 | 21549 | 64870;64871;64872 | chr2:178551066;178551065;178551064 | chr2:179415793;179415792;179415791 |
| Novex-2 | 21616 | 65071;65072;65073 | chr2:178551066;178551065;178551064 | chr2:179415793;179415792;179415791 |
| 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/V | rs755183656  |
-0.665 | 1.0 | D | 0.804 | 0.539 | 0.831952419182 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs755183656 |
-0.665 | 1.0 | D | 0.804 | 0.539 | 0.831952419182 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs755183656 |
-0.665 | 1.0 | D | 0.804 | 0.539 | 0.831952419182 | gnomAD-4.0.0 | 1.23975E-06 | None | None | None | None | N | None | 2.67123E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3395 | likely_benign | 0.402 | ambiguous | -0.577 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | N | 0.480658992 | None | None | N |
| G/C | 0.5219 | ambiguous | 0.5955 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/D | 0.5977 | likely_pathogenic | 0.6686 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/E | 0.6328 | likely_pathogenic | 0.7054 | pathogenic | -1.171 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.490040287 | None | None | N |
| G/F | 0.8347 | likely_pathogenic | 0.8734 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/H | 0.7614 | likely_pathogenic | 0.8149 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/I | 0.8534 | likely_pathogenic | 0.8917 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| G/K | 0.8402 | likely_pathogenic | 0.8891 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/L | 0.7261 | likely_pathogenic | 0.7741 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/M | 0.7434 | likely_pathogenic | 0.7969 | pathogenic | -0.338 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| G/N | 0.4448 | ambiguous | 0.4815 | ambiguous | -0.632 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/P | 0.9849 | likely_pathogenic | 0.9894 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/Q | 0.6546 | likely_pathogenic | 0.7158 | pathogenic | -0.966 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/R | 0.7266 | likely_pathogenic | 0.7986 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.83 | deleterious | N | 0.514336287 | None | None | N |
| G/S | 0.2069 | likely_benign | 0.2378 | benign | -0.795 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/T | 0.4341 | ambiguous | 0.4942 | ambiguous | -0.886 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/V | 0.7162 | likely_pathogenic | 0.7871 | pathogenic | -0.531 | Destabilizing | 1.0 | D | 0.804 | deleterious | D | 0.541594802 | None | None | N |
| G/W | 0.7331 | likely_pathogenic | 0.7896 | pathogenic | -1.419 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.530360382 | None | None | N |
| G/Y | 0.7394 | likely_pathogenic | 0.7916 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.78 | 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.