Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26717 | 80374;80375;80376 | chr2:178565983;178565982;178565981 | chr2:179430710;179430709;179430708 |
| N2AB | 25076 | 75451;75452;75453 | chr2:178565983;178565982;178565981 | chr2:179430710;179430709;179430708 |
| N2A | 24149 | 72670;72671;72672 | chr2:178565983;178565982;178565981 | chr2:179430710;179430709;179430708 |
| N2B | 17652 | 53179;53180;53181 | chr2:178565983;178565982;178565981 | chr2:179430710;179430709;179430708 |
| Novex-1 | 17777 | 53554;53555;53556 | chr2:178565983;178565982;178565981 | chr2:179430710;179430709;179430708 |
| Novex-2 | 17844 | 53755;53756;53757 | chr2:178565983;178565982;178565981 | chr2:179430710;179430709;179430708 |
| 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/S | rs538799672  |
-1.081 | 0.999 | N | 0.541 | 0.499 | 0.276065633971 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.93424E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs538799672 |
-1.081 | 0.999 | N | 0.541 | 0.499 | 0.276065633971 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| N/S | rs538799672 |
-1.081 | 0.999 | N | 0.541 | 0.499 | 0.276065633971 | gnomAD-4.0.0 | 2.56246E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.8539E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.556 | ambiguous | 0.5503 | ambiguous | -1.117 | Destabilizing | 0.999 | D | 0.802 | deleterious | None | None | None | None | N |
| N/C | 0.3502 | ambiguous | 0.3473 | ambiguous | -0.351 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| N/D | 0.4993 | ambiguous | 0.4951 | ambiguous | -1.112 | Destabilizing | 0.999 | D | 0.567 | neutral | N | 0.482395922 | None | None | N |
| N/E | 0.8359 | likely_pathogenic | 0.8486 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| N/F | 0.6979 | likely_pathogenic | 0.7322 | pathogenic | -0.958 | Destabilizing | 1.0 | D | 0.914 | deleterious | None | None | None | None | N |
| N/G | 0.4147 | ambiguous | 0.3764 | ambiguous | -1.438 | Destabilizing | 1.0 | D | 0.544 | neutral | None | None | None | None | N |
| N/H | 0.1535 | likely_benign | 0.1519 | benign | -1.062 | Destabilizing | 1.0 | D | 0.666 | neutral | N | 0.464281744 | None | None | N |
| N/I | 0.763 | likely_pathogenic | 0.7947 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.909 | deleterious | N | 0.498387036 | None | None | N |
| N/K | 0.8049 | likely_pathogenic | 0.8041 | pathogenic | -0.288 | Destabilizing | 1.0 | D | 0.648 | neutral | N | 0.468188779 | None | None | N |
| N/L | 0.6863 | likely_pathogenic | 0.6949 | pathogenic | -0.297 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| N/M | 0.6755 | likely_pathogenic | 0.6882 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| N/P | 0.9948 | likely_pathogenic | 0.9941 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| N/Q | 0.6456 | likely_pathogenic | 0.6562 | pathogenic | -1.117 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| N/R | 0.7718 | likely_pathogenic | 0.775 | pathogenic | -0.167 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| N/S | 0.1508 | likely_benign | 0.1401 | benign | -1.064 | Destabilizing | 0.999 | D | 0.541 | neutral | N | 0.51622793 | None | None | N |
| N/T | 0.404 | ambiguous | 0.4103 | ambiguous | -0.772 | Destabilizing | 0.999 | D | 0.597 | neutral | N | 0.482142432 | None | None | N |
| N/V | 0.7333 | likely_pathogenic | 0.7652 | pathogenic | -0.543 | Destabilizing | 0.999 | D | 0.898 | deleterious | None | None | None | None | N |
| N/W | 0.8849 | likely_pathogenic | 0.893 | pathogenic | -0.659 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| N/Y | 0.2399 | likely_benign | 0.2539 | benign | -0.438 | Destabilizing | 1.0 | D | 0.901 | deleterious | N | 0.472938947 | 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.