Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31284 | 94075;94076;94077 | chr2:178547776;178547775;178547774 | chr2:179412503;179412502;179412501 |
| N2AB | 29643 | 89152;89153;89154 | chr2:178547776;178547775;178547774 | chr2:179412503;179412502;179412501 |
| N2A | 28716 | 86371;86372;86373 | chr2:178547776;178547775;178547774 | chr2:179412503;179412502;179412501 |
| N2B | 22219 | 66880;66881;66882 | chr2:178547776;178547775;178547774 | chr2:179412503;179412502;179412501 |
| Novex-1 | 22344 | 67255;67256;67257 | chr2:178547776;178547775;178547774 | chr2:179412503;179412502;179412501 |
| Novex-2 | 22411 | 67456;67457;67458 | chr2:178547776;178547775;178547774 | chr2:179412503;179412502;179412501 |
| 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/E | None | None | 1.0 | D | 0.805 | 0.755 | 0.821109752754 | gnomAD-4.0.0 | 1.59103E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85776E-06 | 0 | 0 |
| G/R | rs1553527764  |
-0.229 | 1.0 | D | 0.813 | 0.742 | 0.866104205152 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| G/R | rs1553527764 |
-0.229 | 1.0 | D | 0.813 | 0.742 | 0.866104205152 | gnomAD-4.0.0 | 6.8417E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9942E-07 | 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 | 0.5473 | ambiguous | 0.5212 | ambiguous | -0.57 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | D | 0.568201121 | None | None | I |
| G/C | 0.8063 | likely_pathogenic | 0.8078 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| G/D | 0.8942 | likely_pathogenic | 0.8862 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | I |
| G/E | 0.9258 | likely_pathogenic | 0.934 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.62187044 | None | None | I |
| G/F | 0.9809 | likely_pathogenic | 0.9849 | pathogenic | -0.758 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| G/H | 0.9589 | likely_pathogenic | 0.96 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| G/I | 0.9762 | likely_pathogenic | 0.9832 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/K | 0.9525 | likely_pathogenic | 0.9571 | pathogenic | -0.976 | Destabilizing | 1.0 | D | 0.806 | deleterious | None | None | None | None | I |
| G/L | 0.9653 | likely_pathogenic | 0.9689 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| G/M | 0.9738 | likely_pathogenic | 0.9763 | pathogenic | -0.036 | Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | I |
| G/N | 0.9052 | likely_pathogenic | 0.8991 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| G/P | 0.9973 | likely_pathogenic | 0.9981 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/Q | 0.9087 | likely_pathogenic | 0.9122 | pathogenic | -0.864 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | I |
| G/R | 0.8724 | likely_pathogenic | 0.8948 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.813 | deleterious | D | 0.621668636 | None | None | I |
| G/S | 0.4339 | ambiguous | 0.4083 | ambiguous | -1.194 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | I |
| G/T | 0.8762 | likely_pathogenic | 0.8865 | pathogenic | -1.07 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/V | 0.9403 | likely_pathogenic | 0.9573 | pathogenic | -0.108 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.62187044 | None | None | I |
| G/W | 0.962 | likely_pathogenic | 0.9722 | pathogenic | -1.274 | Destabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| G/Y | 0.9744 | likely_pathogenic | 0.9775 | pathogenic | -0.748 | Destabilizing | 1.0 | D | 0.755 | 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.