Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7296 | 22111;22112;22113 | chr2:178723121;178723120;178723119 | chr2:179587848;179587847;179587846 |
| N2AB | 6979 | 21160;21161;21162 | chr2:178723121;178723120;178723119 | chr2:179587848;179587847;179587846 |
| N2A | 6052 | 18379;18380;18381 | chr2:178723121;178723120;178723119 | chr2:179587848;179587847;179587846 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs767681708  |
-0.444 | 0.989 | D | 0.635 | 0.641 | 0.535294132878 | 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 |
| D/E | rs767681708 |
-0.444 | 0.989 | D | 0.635 | 0.641 | 0.535294132878 | gnomAD-4.0.0 | 8.89577E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07945E-05 | 0 | 1.65706E-05 |
| D/H | rs1391650834 |
-0.585 | 1.0 | D | 0.767 | 0.653 | 0.692857881624 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| D/H | rs1391650834 |
-0.585 | 1.0 | D | 0.767 | 0.653 | 0.692857881624 | gnomAD-4.0.0 | 1.59174E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77408E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8675 | likely_pathogenic | 0.8704 | pathogenic | -0.242 | Destabilizing | 0.198 | N | 0.552 | neutral | D | 0.567258155 | None | None | N |
| D/C | 0.9556 | likely_pathogenic | 0.9565 | pathogenic | -0.04 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| D/E | 0.7111 | likely_pathogenic | 0.7088 | pathogenic | -0.606 | Destabilizing | 0.989 | D | 0.635 | neutral | D | 0.584156172 | None | None | N |
| D/F | 0.9557 | likely_pathogenic | 0.9545 | pathogenic | 0.33 | Stabilizing | 0.999 | D | 0.871 | deleterious | None | None | None | None | N |
| D/G | 0.8645 | likely_pathogenic | 0.8752 | pathogenic | -0.611 | Destabilizing | 0.956 | D | 0.703 | prob.neutral | D | 0.633859049 | None | None | N |
| D/H | 0.8272 | likely_pathogenic | 0.8261 | pathogenic | 0.111 | Stabilizing | 1.0 | D | 0.767 | deleterious | D | 0.592271216 | None | None | N |
| D/I | 0.9502 | likely_pathogenic | 0.9486 | pathogenic | 0.733 | Stabilizing | 0.998 | D | 0.867 | deleterious | None | None | None | None | N |
| D/K | 0.9698 | likely_pathogenic | 0.9689 | pathogenic | 0.059 | Stabilizing | 0.995 | D | 0.789 | deleterious | None | None | None | None | N |
| D/L | 0.9464 | likely_pathogenic | 0.9487 | pathogenic | 0.733 | Stabilizing | 0.995 | D | 0.834 | deleterious | None | None | None | None | N |
| D/M | 0.972 | likely_pathogenic | 0.9735 | pathogenic | 1.054 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/N | 0.5732 | likely_pathogenic | 0.6096 | pathogenic | -0.623 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | D | 0.602790065 | None | None | N |
| D/P | 0.9938 | likely_pathogenic | 0.9953 | pathogenic | 0.435 | Stabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| D/Q | 0.9368 | likely_pathogenic | 0.9329 | pathogenic | -0.422 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | None | None | None | None | N |
| D/R | 0.9755 | likely_pathogenic | 0.9748 | pathogenic | 0.231 | Stabilizing | 0.998 | D | 0.855 | deleterious | None | None | None | None | N |
| D/S | 0.7892 | likely_pathogenic | 0.8038 | pathogenic | -0.797 | Destabilizing | 0.967 | D | 0.653 | neutral | None | None | None | None | N |
| D/T | 0.924 | likely_pathogenic | 0.9275 | pathogenic | -0.471 | Destabilizing | 0.983 | D | 0.759 | deleterious | None | None | None | None | N |
| D/V | 0.8863 | likely_pathogenic | 0.8821 | pathogenic | 0.435 | Stabilizing | 0.978 | D | 0.829 | deleterious | D | 0.650282019 | None | None | N |
| D/W | 0.9894 | likely_pathogenic | 0.9902 | pathogenic | 0.544 | Stabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| D/Y | 0.756 | likely_pathogenic | 0.7418 | pathogenic | 0.606 | Stabilizing | 0.999 | D | 0.872 | deleterious | D | 0.612701706 | 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.