Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29509 | 88750;88751;88752 | chr2:178554934;178554933;178554932 | chr2:179419661;179419660;179419659 |
| N2AB | 27868 | 83827;83828;83829 | chr2:178554934;178554933;178554932 | chr2:179419661;179419660;179419659 |
| N2A | 26941 | 81046;81047;81048 | chr2:178554934;178554933;178554932 | chr2:179419661;179419660;179419659 |
| N2B | 20444 | 61555;61556;61557 | chr2:178554934;178554933;178554932 | chr2:179419661;179419660;179419659 |
| Novex-1 | 20569 | 61930;61931;61932 | chr2:178554934;178554933;178554932 | chr2:179419661;179419660;179419659 |
| Novex-2 | 20636 | 62131;62132;62133 | chr2:178554934;178554933;178554932 | chr2:179419661;179419660;179419659 |
| 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/R | None | None | 1.0 | D | 0.826 | 0.766 | 0.882723044967 | gnomAD-4.0.0 | 1.59127E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85789E-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 | 0.4585 | ambiguous | 0.5193 | ambiguous | -0.782 | Destabilizing | 1.0 | D | 0.744 | deleterious | D | 0.570290603 | None | None | N |
| G/C | 0.8064 | likely_pathogenic | 0.8455 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/D | 0.9289 | likely_pathogenic | 0.9393 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| G/E | 0.9629 | likely_pathogenic | 0.9683 | pathogenic | -1.238 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.610494372 | None | None | N |
| G/F | 0.9854 | likely_pathogenic | 0.9877 | pathogenic | -1.147 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/H | 0.9757 | likely_pathogenic | 0.98 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| G/I | 0.9795 | likely_pathogenic | 0.9846 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/K | 0.9727 | likely_pathogenic | 0.9777 | pathogenic | -1.268 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/L | 0.9737 | likely_pathogenic | 0.9781 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/M | 0.9842 | likely_pathogenic | 0.9878 | pathogenic | -0.265 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/N | 0.9448 | likely_pathogenic | 0.9541 | pathogenic | -0.96 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/P | 0.9973 | likely_pathogenic | 0.9973 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Q | 0.9463 | likely_pathogenic | 0.9564 | pathogenic | -1.137 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/R | 0.9109 | likely_pathogenic | 0.9289 | pathogenic | -0.951 | Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.610292568 | None | None | N |
| G/S | 0.4744 | ambiguous | 0.5268 | ambiguous | -1.244 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/T | 0.8954 | likely_pathogenic | 0.918 | pathogenic | -1.216 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/V | 0.9462 | likely_pathogenic | 0.9592 | pathogenic | -0.477 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.610494372 | None | None | N |
| G/W | 0.9824 | likely_pathogenic | 0.986 | pathogenic | -1.508 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/Y | 0.982 | likely_pathogenic | 0.9857 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.797 | 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.