Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32470 | 97633;97634;97635 | chr2:178542348;178542347;178542346 | chr2:179407075;179407074;179407073 |
| N2AB | 30829 | 92710;92711;92712 | chr2:178542348;178542347;178542346 | chr2:179407075;179407074;179407073 |
| N2A | 29902 | 89929;89930;89931 | chr2:178542348;178542347;178542346 | chr2:179407075;179407074;179407073 |
| N2B | 23405 | 70438;70439;70440 | chr2:178542348;178542347;178542346 | chr2:179407075;179407074;179407073 |
| Novex-1 | 23530 | 70813;70814;70815 | chr2:178542348;178542347;178542346 | chr2:179407075;179407074;179407073 |
| Novex-2 | 23597 | 71014;71015;71016 | chr2:178542348;178542347;178542346 | chr2:179407075;179407074;179407073 |
| 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 | None | None | 1.0 | D | 0.847 | 0.868 | 0.939055563146 | gnomAD-4.0.0 | 1.36866E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79909E-06 | 0 | 0 |
| Y/D | rs766707276  |
-3.977 | 1.0 | D | 0.83 | 0.853 | 0.954535357779 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| Y/D | rs766707276 |
-3.977 | 1.0 | D | 0.83 | 0.853 | 0.954535357779 | gnomAD-4.0.0 | 2.73734E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5982E-06 | 0 | 0 |
| Y/F | None | None | 0.999 | D | 0.725 | 0.816 | 0.824541419908 | gnomAD-4.0.0 | 6.8433E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99543E-07 | 0 | 0 |
| Y/H | None | None | 1.0 | D | 0.786 | 0.814 | 0.864210700598 | gnomAD-4.0.0 | 6.84334E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99551E-07 | 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 | 0.9911 | likely_pathogenic | 0.988 | pathogenic | -3.115 | Highly Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| Y/C | 0.9556 | likely_pathogenic | 0.928 | pathogenic | -1.825 | Destabilizing | 1.0 | D | 0.847 | deleterious | D | 0.694295043 | None | None | N |
| Y/D | 0.9868 | likely_pathogenic | 0.9849 | pathogenic | -3.387 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.694295043 | None | None | N |
| Y/E | 0.9968 | likely_pathogenic | 0.996 | pathogenic | -3.185 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| Y/F | 0.2831 | likely_benign | 0.2403 | benign | -1.021 | Destabilizing | 0.999 | D | 0.725 | prob.delet. | D | 0.644188557 | None | None | N |
| Y/G | 0.9843 | likely_pathogenic | 0.9803 | pathogenic | -3.533 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/H | 0.9594 | likely_pathogenic | 0.9369 | pathogenic | -2.075 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.694295043 | None | None | N |
| Y/I | 0.9604 | likely_pathogenic | 0.9498 | pathogenic | -1.727 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| Y/K | 0.9961 | likely_pathogenic | 0.9946 | pathogenic | -2.05 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| Y/L | 0.9459 | likely_pathogenic | 0.9297 | pathogenic | -1.727 | Destabilizing | 0.999 | D | 0.764 | deleterious | None | None | None | None | N |
| Y/M | 0.97 | likely_pathogenic | 0.9582 | pathogenic | -1.535 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| Y/N | 0.9406 | likely_pathogenic | 0.9176 | pathogenic | -2.797 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | D | 0.694093238 | None | None | N |
| Y/P | 0.999 | likely_pathogenic | 0.9989 | pathogenic | -2.205 | Highly Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | N |
| Y/Q | 0.996 | likely_pathogenic | 0.9942 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| Y/R | 0.9922 | likely_pathogenic | 0.9888 | pathogenic | -1.773 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| Y/S | 0.9797 | likely_pathogenic | 0.9721 | pathogenic | -3.183 | Highly Destabilizing | 1.0 | D | 0.83 | deleterious | D | 0.678043517 | None | None | N |
| Y/T | 0.9874 | likely_pathogenic | 0.9828 | pathogenic | -2.86 | Highly Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| Y/V | 0.9298 | likely_pathogenic | 0.9135 | pathogenic | -2.205 | Highly Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | N |
| Y/W | 0.8694 | likely_pathogenic | 0.8485 | pathogenic | -0.302 | Destabilizing | 1.0 | D | 0.766 | 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.