Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33439 | 100540;100541;100542 | chr2:178536432;178536431;178536430 | chr2:179401159;179401158;179401157 |
| N2AB | 31798 | 95617;95618;95619 | chr2:178536432;178536431;178536430 | chr2:179401159;179401158;179401157 |
| N2A | 30871 | 92836;92837;92838 | chr2:178536432;178536431;178536430 | chr2:179401159;179401158;179401157 |
| N2B | 24374 | 73345;73346;73347 | chr2:178536432;178536431;178536430 | chr2:179401159;179401158;179401157 |
| Novex-1 | 24499 | 73720;73721;73722 | chr2:178536432;178536431;178536430 | chr2:179401159;179401158;179401157 |
| Novex-2 | 24566 | 73921;73922;73923 | chr2:178536432;178536431;178536430 | chr2:179401159;179401158;179401157 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/R | rs545443009  |
-1.221 | 1.0 | D | 0.729 | 0.619 | 0.730522101581 | gnomAD-2.1.1 | 5.64E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 4.58235E-04 | None | 0 | 0 | 0 |
| W/R | rs545443009 |
-1.221 | 1.0 | D | 0.729 | 0.619 | 0.730522101581 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06868E-04 | 0 |
| W/R | rs545443009 |
-1.221 | 1.0 | D | 0.729 | 0.619 | 0.730522101581 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| W/R | rs545443009 |
-1.221 | 1.0 | D | 0.729 | 0.619 | 0.730522101581 | gnomAD-4.0.0 | 1.92183E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.07604E-04 | 4.80661E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9884 | likely_pathogenic | 0.9904 | pathogenic | -2.894 | Highly Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| W/C | 0.9955 | likely_pathogenic | 0.996 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | D | 0.538492659 | None | None | N |
| W/D | 0.9947 | likely_pathogenic | 0.996 | pathogenic | -2.371 | Highly Destabilizing | 1.0 | D | 0.728 | prob.delet. | None | None | None | None | N |
| W/E | 0.9972 | likely_pathogenic | 0.9981 | pathogenic | -2.274 | Highly Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/F | 0.6162 | likely_pathogenic | 0.6464 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | N |
| W/G | 0.9659 | likely_pathogenic | 0.9698 | pathogenic | -3.102 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | D | 0.53773219 | None | None | N |
| W/H | 0.9925 | likely_pathogenic | 0.9939 | pathogenic | -1.571 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| W/I | 0.9837 | likely_pathogenic | 0.9861 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| W/K | 0.9991 | likely_pathogenic | 0.9994 | pathogenic | -1.786 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| W/L | 0.9558 | likely_pathogenic | 0.9609 | pathogenic | -2.113 | Highly Destabilizing | 1.0 | D | 0.613 | neutral | N | 0.512991663 | None | None | N |
| W/M | 0.9858 | likely_pathogenic | 0.9872 | pathogenic | -1.556 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| W/N | 0.9944 | likely_pathogenic | 0.9957 | pathogenic | -2.307 | Highly Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| W/P | 0.9924 | likely_pathogenic | 0.9945 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| W/Q | 0.999 | likely_pathogenic | 0.9993 | pathogenic | -2.254 | Highly Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| W/R | 0.9986 | likely_pathogenic | 0.999 | pathogenic | -1.332 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.537478701 | None | None | N |
| W/S | 0.9866 | likely_pathogenic | 0.9884 | pathogenic | -2.611 | Highly Destabilizing | 1.0 | D | 0.724 | prob.delet. | N | 0.518867467 | None | None | N |
| W/T | 0.9886 | likely_pathogenic | 0.9903 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| W/V | 0.9827 | likely_pathogenic | 0.985 | pathogenic | -2.396 | Highly Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | N |
| W/Y | 0.8463 | likely_pathogenic | 0.8689 | pathogenic | -1.452 | Destabilizing | 1.0 | D | 0.567 | neutral | 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.