Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33761 | 101506;101507;101508 | chr2:178535334;178535333;178535332 | chr2:179400061;179400060;179400059 |
| N2AB | 32120 | 96583;96584;96585 | chr2:178535334;178535333;178535332 | chr2:179400061;179400060;179400059 |
| N2A | 31193 | 93802;93803;93804 | chr2:178535334;178535333;178535332 | chr2:179400061;179400060;179400059 |
| N2B | 24696 | 74311;74312;74313 | chr2:178535334;178535333;178535332 | chr2:179400061;179400060;179400059 |
| Novex-1 | 24821 | 74686;74687;74688 | chr2:178535334;178535333;178535332 | chr2:179400061;179400060;179400059 |
| Novex-2 | 24888 | 74887;74888;74889 | chr2:178535334;178535333;178535332 | chr2:179400061;179400060;179400059 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs774790424  |
-1.027 | 1.0 | N | 0.779 | 0.572 | 0.376570364461 | gnomAD-2.1.1 | 2.14E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.68E-05 | 0 |
| R/Q | rs774790424 |
-1.027 | 1.0 | N | 0.779 | 0.572 | 0.376570364461 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| R/Q | rs774790424 |
-1.027 | 1.0 | N | 0.779 | 0.572 | 0.376570364461 | gnomAD-4.0.0 | 1.23935E-05 | None | None | None | None | N | None | 1.33486E-05 | 0 | None | 0 | 2.22747E-05 | None | 0 | 0 | 1.52563E-05 | 0 | 0 |
| R/W | rs201421156 |
-0.762 | 1.0 | D | 0.801 | 0.655 | None | gnomAD-2.1.1 | 9.27E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.02878E-04 | 0 |
| R/W | rs201421156 |
-0.762 | 1.0 | D | 0.801 | 0.655 | None | gnomAD-3.1.2 | 1.70915E-04 | None | None | None | None | N | None | 2.41E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 3.52796E-04 | 0 | 0 |
| R/W | rs201421156 |
-0.762 | 1.0 | D | 0.801 | 0.655 | None | gnomAD-4.0.0 | 1.92103E-04 | None | None | None | None | N | None | 1.33526E-05 | 1.66722E-05 | None | 0 | 0 | None | 0 | 0 | 2.54272E-04 | 1.09803E-05 | 1.12061E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9931 | likely_pathogenic | 0.9946 | pathogenic | -1.892 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| R/C | 0.8118 | likely_pathogenic | 0.8471 | pathogenic | -1.811 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| R/D | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -0.945 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| R/E | 0.9889 | likely_pathogenic | 0.9904 | pathogenic | -0.72 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | N |
| R/F | 0.998 | likely_pathogenic | 0.9981 | pathogenic | -1.055 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| R/G | 0.9926 | likely_pathogenic | 0.9933 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.735 | prob.delet. | D | 0.547400791 | None | None | N |
| R/H | 0.7822 | likely_pathogenic | 0.8024 | pathogenic | -2.033 | Highly Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| R/I | 0.9868 | likely_pathogenic | 0.9899 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| R/K | 0.7734 | likely_pathogenic | 0.7999 | pathogenic | -1.221 | Destabilizing | 0.996 | D | 0.675 | neutral | None | None | None | None | N |
| R/L | 0.9773 | likely_pathogenic | 0.9781 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | N | 0.505520742 | None | None | N |
| R/M | 0.9926 | likely_pathogenic | 0.9942 | pathogenic | -1.392 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| R/N | 0.9966 | likely_pathogenic | 0.997 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | N |
| R/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.54790777 | None | None | N |
| R/Q | 0.7557 | likely_pathogenic | 0.7709 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.779 | deleterious | N | 0.490566358 | None | None | N |
| R/S | 0.9948 | likely_pathogenic | 0.9955 | pathogenic | -2.165 | Highly Destabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| R/T | 0.9939 | likely_pathogenic | 0.9949 | pathogenic | -1.723 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| R/V | 0.9872 | likely_pathogenic | 0.9901 | pathogenic | -1.189 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| R/W | 0.9584 | likely_pathogenic | 0.9606 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.801 | deleterious | D | 0.529550026 | None | None | N |
| R/Y | 0.9917 | likely_pathogenic | 0.9906 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.851 | 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.