Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18762 | 56509;56510;56511 | chr2:178599617;178599616;178599615 | chr2:179464344;179464343;179464342 |
| N2AB | 17121 | 51586;51587;51588 | chr2:178599617;178599616;178599615 | chr2:179464344;179464343;179464342 |
| N2A | 16194 | 48805;48806;48807 | chr2:178599617;178599616;178599615 | chr2:179464344;179464343;179464342 |
| N2B | 9697 | 29314;29315;29316 | chr2:178599617;178599616;178599615 | chr2:179464344;179464343;179464342 |
| Novex-1 | 9822 | 29689;29690;29691 | chr2:178599617;178599616;178599615 | chr2:179464344;179464343;179464342 |
| Novex-2 | 9889 | 29890;29891;29892 | chr2:178599617;178599616;178599615 | chr2:179464344;179464343;179464342 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/C | rs2052736042  |
None | 1.0 | D | 0.874 | 0.898 | 0.844248507264 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07297E-04 | 0 |
| Y/C | rs2052736042 |
None | 1.0 | D | 0.874 | 0.898 | 0.844248507264 | gnomAD-4.0.0 | 2.48257E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.48484E-07 | 3.31397E-05 | 0 |
| Y/H | None | None | 1.0 | D | 0.805 | 0.905 | 0.730229562664 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| Y/N | None | None | 1.0 | D | 0.885 | 0.906 | 0.88941892458 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.9961 | likely_pathogenic | 0.9939 | pathogenic | -2.693 | Highly Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| Y/C | 0.9037 | likely_pathogenic | 0.8609 | pathogenic | -2.146 | Highly Destabilizing | 1.0 | D | 0.874 | deleterious | D | 0.623474156 | None | None | N |
| Y/D | 0.9968 | likely_pathogenic | 0.9959 | pathogenic | -3.233 | Highly Destabilizing | 1.0 | D | 0.887 | deleterious | D | 0.639493517 | None | None | N |
| Y/E | 0.9986 | likely_pathogenic | 0.9981 | pathogenic | -2.994 | Highly Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| Y/F | 0.1583 | likely_benign | 0.1477 | benign | -0.991 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | D | 0.570178085 | None | None | N |
| Y/G | 0.9923 | likely_pathogenic | 0.9888 | pathogenic | -3.152 | Highly Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| Y/H | 0.9415 | likely_pathogenic | 0.9173 | pathogenic | -2.145 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.639291712 | None | None | N |
| Y/I | 0.9378 | likely_pathogenic | 0.916 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| Y/K | 0.9981 | likely_pathogenic | 0.997 | pathogenic | -2.458 | Highly Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| Y/L | 0.8545 | likely_pathogenic | 0.8158 | pathogenic | -1.178 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/M | 0.9731 | likely_pathogenic | 0.9604 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| Y/N | 0.9832 | likely_pathogenic | 0.976 | pathogenic | -3.405 | Highly Destabilizing | 1.0 | D | 0.885 | deleterious | D | 0.639493517 | None | None | N |
| Y/P | 0.9982 | likely_pathogenic | 0.9976 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| Y/Q | 0.997 | likely_pathogenic | 0.9952 | pathogenic | -2.98 | Highly Destabilizing | 1.0 | D | 0.864 | deleterious | None | None | None | None | N |
| Y/R | 0.9923 | likely_pathogenic | 0.9887 | pathogenic | -2.524 | Highly Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| Y/S | 0.989 | likely_pathogenic | 0.983 | pathogenic | -3.754 | Highly Destabilizing | 1.0 | D | 0.888 | deleterious | D | 0.639493517 | None | None | N |
| Y/T | 0.9956 | likely_pathogenic | 0.9929 | pathogenic | -3.369 | Highly Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | None | None | N |
| Y/V | 0.9232 | likely_pathogenic | 0.8975 | pathogenic | -1.698 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| Y/W | 0.7342 | likely_pathogenic | 0.6794 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.796 | 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.