Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32651 | 98176;98177;98178 | chr2:178540215;178540214;178540213 | chr2:179404942;179404941;179404940 |
| N2AB | 31010 | 93253;93254;93255 | chr2:178540215;178540214;178540213 | chr2:179404942;179404941;179404940 |
| N2A | 30083 | 90472;90473;90474 | chr2:178540215;178540214;178540213 | chr2:179404942;179404941;179404940 |
| N2B | 23586 | 70981;70982;70983 | chr2:178540215;178540214;178540213 | chr2:179404942;179404941;179404940 |
| Novex-1 | 23711 | 71356;71357;71358 | chr2:178540215;178540214;178540213 | chr2:179404942;179404941;179404940 |
| Novex-2 | 23778 | 71557;71558;71559 | chr2:178540215;178540214;178540213 | chr2:179404942;179404941;179404940 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | rs990374887  |
-1.521 | 0.999 | N | 0.662 | 0.416 | 0.293147016451 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| N/D | rs990374887 |
-1.521 | 0.999 | N | 0.662 | 0.416 | 0.293147016451 | gnomAD-4.0.0 | 2.05259E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69842E-06 | 0 | 0 |
| N/K | rs777633696 |
-0.372 | 1.0 | N | 0.753 | 0.376 | 0.151104730317 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| N/K | rs777633696 |
-0.372 | 1.0 | N | 0.753 | 0.376 | 0.151104730317 | gnomAD-4.0.0 | 6.84196E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99473E-07 | 0 | 0 |
| N/S | None | None | 0.999 | N | 0.628 | 0.343 | 0.21737058555 | gnomAD-4.0.0 | 6.84198E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99476E-07 | 0 | 0 |
| N/T | rs794729548 |
None | 0.999 | N | 0.716 | 0.372 | 0.335414705075 | gnomAD-4.0.0 | 2.73679E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59791E-06 | 0 | 0 |
| N/Y | rs990374887 |
None | 1.0 | N | 0.788 | 0.502 | 0.587962498257 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79895E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.9267 | likely_pathogenic | 0.935 | pathogenic | -0.97 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| N/C | 0.7821 | likely_pathogenic | 0.7845 | pathogenic | -0.06 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| N/D | 0.888 | likely_pathogenic | 0.9017 | pathogenic | -0.951 | Destabilizing | 0.999 | D | 0.662 | neutral | N | 0.467623029 | None | None | N |
| N/E | 0.9902 | likely_pathogenic | 0.9916 | pathogenic | -0.783 | Destabilizing | 0.999 | D | 0.732 | prob.delet. | None | None | None | None | N |
| N/F | 0.987 | likely_pathogenic | 0.9901 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| N/G | 0.918 | likely_pathogenic | 0.9185 | pathogenic | -1.374 | Destabilizing | 0.999 | D | 0.613 | neutral | None | None | None | None | N |
| N/H | 0.7697 | likely_pathogenic | 0.8256 | pathogenic | -1.074 | Destabilizing | 1.0 | D | 0.781 | deleterious | N | 0.497164954 | None | None | N |
| N/I | 0.9185 | likely_pathogenic | 0.9192 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.789 | deleterious | N | 0.497279597 | None | None | N |
| N/K | 0.9924 | likely_pathogenic | 0.9937 | pathogenic | -0.304 | Destabilizing | 1.0 | D | 0.753 | deleterious | N | 0.515518641 | None | None | N |
| N/L | 0.8859 | likely_pathogenic | 0.8933 | pathogenic | 0.092 | Stabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| N/M | 0.9371 | likely_pathogenic | 0.9468 | pathogenic | 0.533 | Stabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| N/P | 0.977 | likely_pathogenic | 0.9762 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.784 | deleterious | None | None | None | None | N |
| N/Q | 0.9705 | likely_pathogenic | 0.9748 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| N/R | 0.9832 | likely_pathogenic | 0.9861 | pathogenic | -0.512 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | N |
| N/S | 0.2825 | likely_benign | 0.2924 | benign | -1.107 | Destabilizing | 0.999 | D | 0.628 | neutral | N | 0.464127029 | None | None | N |
| N/T | 0.6118 | likely_pathogenic | 0.6246 | pathogenic | -0.73 | Destabilizing | 0.999 | D | 0.716 | prob.delet. | N | 0.435593633 | None | None | N |
| N/V | 0.8915 | likely_pathogenic | 0.8992 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| N/W | 0.9959 | likely_pathogenic | 0.9968 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| N/Y | 0.9221 | likely_pathogenic | 0.9409 | pathogenic | -0.11 | Destabilizing | 1.0 | D | 0.788 | deleterious | N | 0.508190024 | 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.