Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19795 | 59608;59609;59610 | chr2:178592622;178592621;178592620 | chr2:179457349;179457348;179457347 |
| N2AB | 18154 | 54685;54686;54687 | chr2:178592622;178592621;178592620 | chr2:179457349;179457348;179457347 |
| N2A | 17227 | 51904;51905;51906 | chr2:178592622;178592621;178592620 | chr2:179457349;179457348;179457347 |
| N2B | 10730 | 32413;32414;32415 | chr2:178592622;178592621;178592620 | chr2:179457349;179457348;179457347 |
| Novex-1 | 10855 | 32788;32789;32790 | chr2:178592622;178592621;178592620 | chr2:179457349;179457348;179457347 |
| Novex-2 | 10922 | 32989;32990;32991 | chr2:178592622;178592621;178592620 | chr2:179457349;179457348;179457347 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | rs776032119  |
-1.262 | 1.0 | N | 0.744 | 0.449 | 0.301455362545 | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.03348E-04 | None | 0 | None | 0 | 0 | 0 |
| E/G | rs776032119 |
-1.262 | 1.0 | N | 0.744 | 0.449 | 0.301455362545 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93949E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/G | rs776032119 |
-1.262 | 1.0 | N | 0.744 | 0.449 | 0.301455362545 | gnomAD-4.0.0 | 2.56374E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.86594E-05 | None | 0 | 0 | 0 | 0 | 0 |
| E/K | None | None | 0.999 | N | 0.613 | 0.379 | 0.283761946502 | gnomAD-4.0.0 | 1.59241E-06 | None | None | None | None | N | None | 0 | 0 | None | 4.76917E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5008 | ambiguous | 0.633 | pathogenic | -0.811 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.45738191 | None | None | N |
| E/C | 0.9646 | likely_pathogenic | 0.9791 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| E/D | 0.3731 | ambiguous | 0.3775 | ambiguous | -1.029 | Destabilizing | 0.999 | D | 0.551 | neutral | N | 0.43380883 | None | None | N |
| E/F | 0.9425 | likely_pathogenic | 0.9653 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| E/G | 0.4905 | ambiguous | 0.6166 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.494745432 | None | None | N |
| E/H | 0.8822 | likely_pathogenic | 0.9299 | pathogenic | -0.582 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/I | 0.7094 | likely_pathogenic | 0.8194 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| E/K | 0.6423 | likely_pathogenic | 0.792 | pathogenic | -0.955 | Destabilizing | 0.999 | D | 0.613 | neutral | N | 0.50677058 | None | None | N |
| E/L | 0.7564 | likely_pathogenic | 0.8416 | pathogenic | 0.08 | Stabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| E/M | 0.79 | likely_pathogenic | 0.8743 | pathogenic | 0.402 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| E/N | 0.7239 | likely_pathogenic | 0.7945 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| E/P | 0.9037 | likely_pathogenic | 0.9638 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| E/Q | 0.382 | ambiguous | 0.5199 | ambiguous | -1.084 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.453210125 | None | None | N |
| E/R | 0.7815 | likely_pathogenic | 0.8817 | pathogenic | -0.602 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| E/S | 0.6058 | likely_pathogenic | 0.7083 | pathogenic | -1.505 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| E/T | 0.5914 | likely_pathogenic | 0.7158 | pathogenic | -1.251 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| E/V | 0.5006 | ambiguous | 0.6423 | pathogenic | -0.197 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.484221794 | None | None | N |
| E/W | 0.9809 | likely_pathogenic | 0.99 | pathogenic | -0.151 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| E/Y | 0.9081 | likely_pathogenic | 0.9442 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.801 | 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.