Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29854 | 89785;89786;89787 | chr2:178553340;178553339;178553338 | chr2:179418067;179418066;179418065 |
| N2AB | 28213 | 84862;84863;84864 | chr2:178553340;178553339;178553338 | chr2:179418067;179418066;179418065 |
| N2A | 27286 | 82081;82082;82083 | chr2:178553340;178553339;178553338 | chr2:179418067;179418066;179418065 |
| N2B | 20789 | 62590;62591;62592 | chr2:178553340;178553339;178553338 | chr2:179418067;179418066;179418065 |
| Novex-1 | 20914 | 62965;62966;62967 | chr2:178553340;178553339;178553338 | chr2:179418067;179418066;179418065 |
| Novex-2 | 20981 | 63166;63167;63168 | chr2:178553340;178553339;178553338 | chr2:179418067;179418066;179418065 |
| 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/D | rs1307295832  |
-0.984 | 1.0 | D | 0.88 | 0.778 | 0.615685111792 | gnomAD-2.1.1 | 4.13E-06 | None | None | None | None | I | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs1307295832 |
-0.984 | 1.0 | D | 0.88 | 0.778 | 0.615685111792 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs1307295832 |
-0.984 | 1.0 | D | 0.88 | 0.778 | 0.615685111792 | gnomAD-4.0.0 | 6.2402E-06 | None | None | None | None | I | None | 1.33579E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 7.64587E-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 | 0.5762 | likely_pathogenic | 0.5044 | ambiguous | -0.489 | Destabilizing | 1.0 | D | 0.785 | deleterious | D | 0.627076272 | None | None | I |
| G/C | 0.6568 | likely_pathogenic | 0.6017 | pathogenic | -0.932 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.633021472 | None | None | I |
| G/D | 0.6912 | likely_pathogenic | 0.6337 | pathogenic | -0.991 | Destabilizing | 1.0 | D | 0.88 | deleterious | D | 0.593190951 | None | None | I |
| G/E | 0.726 | likely_pathogenic | 0.653 | pathogenic | -1.158 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| G/F | 0.946 | likely_pathogenic | 0.9273 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/H | 0.8069 | likely_pathogenic | 0.7708 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/I | 0.958 | likely_pathogenic | 0.9401 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/K | 0.7591 | likely_pathogenic | 0.6986 | pathogenic | -1.034 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | I |
| G/L | 0.8992 | likely_pathogenic | 0.8636 | pathogenic | -0.594 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/M | 0.9022 | likely_pathogenic | 0.8654 | pathogenic | -0.457 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/N | 0.662 | likely_pathogenic | 0.6198 | pathogenic | -0.678 | Destabilizing | 1.0 | D | 0.856 | deleterious | None | None | None | None | I |
| G/P | 0.9945 | likely_pathogenic | 0.9909 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| G/Q | 0.6785 | likely_pathogenic | 0.6185 | pathogenic | -1.024 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | I |
| G/R | 0.62 | likely_pathogenic | 0.542 | ambiguous | -0.503 | Destabilizing | 1.0 | D | 0.882 | deleterious | D | 0.639118474 | None | None | I |
| G/S | 0.3416 | ambiguous | 0.2926 | benign | -0.794 | Destabilizing | 1.0 | D | 0.857 | deleterious | D | 0.602961509 | None | None | I |
| G/T | 0.7275 | likely_pathogenic | 0.6565 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | I |
| G/V | 0.9067 | likely_pathogenic | 0.868 | pathogenic | -0.525 | Destabilizing | 1.0 | D | 0.842 | deleterious | D | 0.66485839 | None | None | I |
| G/W | 0.8855 | likely_pathogenic | 0.8444 | pathogenic | -1.341 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | I |
| G/Y | 0.9009 | likely_pathogenic | 0.8717 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.855 | deleterious | 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.