Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22640 | 68143;68144;68145 | chr2:178579112;178579111;178579110 | chr2:179443839;179443838;179443837 |
| N2AB | 20999 | 63220;63221;63222 | chr2:178579112;178579111;178579110 | chr2:179443839;179443838;179443837 |
| N2A | 20072 | 60439;60440;60441 | chr2:178579112;178579111;178579110 | chr2:179443839;179443838;179443837 |
| N2B | 13575 | 40948;40949;40950 | chr2:178579112;178579111;178579110 | chr2:179443839;179443838;179443837 |
| Novex-1 | 13700 | 41323;41324;41325 | chr2:178579112;178579111;178579110 | chr2:179443839;179443838;179443837 |
| Novex-2 | 13767 | 41524;41525;41526 | chr2:178579112;178579111;178579110 | chr2:179443839;179443838;179443837 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1060500506  |
None | 0.489 | D | 0.652 | 0.729 | 0.755074697178 | gnomAD-4.0.0 | 1.16343E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43939E-05 | 0 | 1.657E-05 |
| V/F | rs750093105 |
None | 0.99 | D | 0.739 | 0.689 | 0.921470471804 | gnomAD-4.0.0 | 1.36873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.05127E-05 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs750093105 |
-0.909 | 0.904 | N | 0.626 | 0.449 | 0.709371828926 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/I | rs750093105 |
-0.909 | 0.904 | N | 0.626 | 0.449 | 0.709371828926 | gnomAD-4.0.0 | 1.16342E-05 | None | None | None | None | N | None | 0 | 2.23694E-05 | None | 0 | 0 | None | 0 | 0 | 1.43938E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.8252 | likely_pathogenic | 0.8064 | pathogenic | -1.882 | Destabilizing | 0.489 | N | 0.652 | neutral | D | 0.608999584 | None | None | N |
| V/C | 0.9834 | likely_pathogenic | 0.979 | pathogenic | -1.409 | Destabilizing | 0.998 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/D | 0.995 | likely_pathogenic | 0.9945 | pathogenic | -2.406 | Highly Destabilizing | 0.942 | D | 0.753 | deleterious | D | 0.609604997 | None | None | N |
| V/E | 0.9891 | likely_pathogenic | 0.9883 | pathogenic | -2.376 | Highly Destabilizing | 0.978 | D | 0.729 | prob.delet. | None | None | None | None | N |
| V/F | 0.9483 | likely_pathogenic | 0.9474 | pathogenic | -1.428 | Destabilizing | 0.99 | D | 0.739 | prob.delet. | D | 0.608999584 | None | None | N |
| V/G | 0.9262 | likely_pathogenic | 0.9141 | pathogenic | -2.224 | Highly Destabilizing | 0.014 | N | 0.583 | neutral | D | 0.609604997 | None | None | N |
| V/H | 0.9975 | likely_pathogenic | 0.9973 | pathogenic | -1.761 | Destabilizing | 0.998 | D | 0.735 | prob.delet. | None | None | None | None | N |
| V/I | 0.1418 | likely_benign | 0.142 | benign | -1.007 | Destabilizing | 0.904 | D | 0.626 | neutral | N | 0.511675802 | None | None | N |
| V/K | 0.9923 | likely_pathogenic | 0.9923 | pathogenic | -1.59 | Destabilizing | 0.956 | D | 0.731 | prob.delet. | None | None | None | None | N |
| V/L | 0.9008 | likely_pathogenic | 0.904 | pathogenic | -1.007 | Destabilizing | 0.795 | D | 0.657 | neutral | D | 0.606981542 | None | None | N |
| V/M | 0.864 | likely_pathogenic | 0.8514 | pathogenic | -0.841 | Destabilizing | 0.993 | D | 0.744 | deleterious | None | None | None | None | N |
| V/N | 0.977 | likely_pathogenic | 0.9729 | pathogenic | -1.509 | Destabilizing | 0.956 | D | 0.749 | deleterious | None | None | None | None | N |
| V/P | 0.9769 | likely_pathogenic | 0.9735 | pathogenic | -1.268 | Destabilizing | 0.978 | D | 0.732 | prob.delet. | None | None | None | None | N |
| V/Q | 0.9917 | likely_pathogenic | 0.9917 | pathogenic | -1.689 | Destabilizing | 0.978 | D | 0.739 | prob.delet. | None | None | None | None | N |
| V/R | 0.9866 | likely_pathogenic | 0.9876 | pathogenic | -1.053 | Destabilizing | 0.978 | D | 0.757 | deleterious | None | None | None | None | N |
| V/S | 0.9415 | likely_pathogenic | 0.933 | pathogenic | -1.977 | Destabilizing | 0.915 | D | 0.71 | prob.delet. | None | None | None | None | N |
| V/T | 0.7635 | likely_pathogenic | 0.7318 | pathogenic | -1.849 | Destabilizing | 0.926 | D | 0.72 | prob.delet. | None | None | None | None | N |
| V/W | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -1.683 | Destabilizing | 0.998 | D | 0.693 | prob.neutral | None | None | None | None | N |
| V/Y | 0.9927 | likely_pathogenic | 0.9925 | pathogenic | -1.411 | Destabilizing | 0.993 | D | 0.741 | 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.