Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31710 | 95353;95354;95355 | chr2:178546108;178546107;178546106 | chr2:179410835;179410834;179410833 |
| N2AB | 30069 | 90430;90431;90432 | chr2:178546108;178546107;178546106 | chr2:179410835;179410834;179410833 |
| N2A | 29142 | 87649;87650;87651 | chr2:178546108;178546107;178546106 | chr2:179410835;179410834;179410833 |
| N2B | 22645 | 68158;68159;68160 | chr2:178546108;178546107;178546106 | chr2:179410835;179410834;179410833 |
| Novex-1 | 22770 | 68533;68534;68535 | chr2:178546108;178546107;178546106 | chr2:179410835;179410834;179410833 |
| Novex-2 | 22837 | 68734;68735;68736 | chr2:178546108;178546107;178546106 | chr2:179410835;179410834;179410833 |
| 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/S | rs770979567  |
-1.127 | 1.0 | N | 0.819 | 0.429 | 0.264081493735 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.18E-06 | 0 |
| G/S | rs770979567 |
-1.127 | 1.0 | N | 0.819 | 0.429 | 0.264081493735 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs770979567 |
-1.127 | 1.0 | N | 0.819 | 0.429 | 0.264081493735 | gnomAD-4.0.0 | 3.11743E-06 | None | None | None | None | N | None | 0 | 1.67966E-05 | None | 0 | 0 | None | 0 | 1.66113E-04 | 2.55574E-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 | 0.3829 | ambiguous | 0.4431 | ambiguous | -0.746 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | N | 0.497827151 | None | None | N |
| G/C | 0.7738 | likely_pathogenic | 0.8097 | pathogenic | -1.211 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.549065724 | None | None | N |
| G/D | 0.9007 | likely_pathogenic | 0.9254 | pathogenic | -1.681 | Destabilizing | 1.0 | D | 0.834 | deleterious | N | 0.467415084 | None | None | N |
| G/E | 0.8787 | likely_pathogenic | 0.9055 | pathogenic | -1.756 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/F | 0.9323 | likely_pathogenic | 0.9508 | pathogenic | -1.213 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | N |
| G/H | 0.9427 | likely_pathogenic | 0.9565 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/I | 0.8877 | likely_pathogenic | 0.9244 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| G/K | 0.9326 | likely_pathogenic | 0.9493 | pathogenic | -1.185 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/L | 0.8294 | likely_pathogenic | 0.8764 | pathogenic | -0.485 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| G/M | 0.9063 | likely_pathogenic | 0.9331 | pathogenic | -0.48 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | N |
| G/N | 0.8876 | likely_pathogenic | 0.9126 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| G/P | 0.9856 | likely_pathogenic | 0.9895 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/Q | 0.8744 | likely_pathogenic | 0.9071 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/R | 0.8864 | likely_pathogenic | 0.9081 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.833 | deleterious | N | 0.518591205 | None | None | N |
| G/S | 0.3359 | likely_benign | 0.3546 | ambiguous | -1.153 | Destabilizing | 1.0 | D | 0.819 | deleterious | N | 0.466664161 | None | None | N |
| G/T | 0.7455 | likely_pathogenic | 0.7694 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/V | 0.8116 | likely_pathogenic | 0.8618 | pathogenic | -0.534 | Destabilizing | 1.0 | D | 0.833 | deleterious | D | 0.548558745 | None | None | N |
| G/W | 0.9297 | likely_pathogenic | 0.9438 | pathogenic | -1.48 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/Y | 0.9216 | likely_pathogenic | 0.9435 | pathogenic | -1.086 | Destabilizing | 1.0 | D | 0.807 | 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.