Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33222 | 99889;99890;99891 | chr2:178537543;178537542;178537541 | chr2:179402270;179402269;179402268 |
| N2AB | 31581 | 94966;94967;94968 | chr2:178537543;178537542;178537541 | chr2:179402270;179402269;179402268 |
| N2A | 30654 | 92185;92186;92187 | chr2:178537543;178537542;178537541 | chr2:179402270;179402269;179402268 |
| N2B | 24157 | 72694;72695;72696 | chr2:178537543;178537542;178537541 | chr2:179402270;179402269;179402268 |
| Novex-1 | 24282 | 73069;73070;73071 | chr2:178537543;178537542;178537541 | chr2:179402270;179402269;179402268 |
| Novex-2 | 24349 | 73270;73271;73272 | chr2:178537543;178537542;178537541 | chr2:179402270;179402269;179402268 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/S | rs926931010  |
-1.894 | 1.0 | D | 0.789 | 0.808 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs926931010 |
-1.894 | 1.0 | D | 0.789 | 0.808 | None | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 1.20703E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs926931010 |
-1.894 | 1.0 | D | 0.789 | 0.808 | None | gnomAD-4.0.0 | 6.09004E-06 | None | None | None | None | N | None | 1.04877E-04 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8346 | likely_pathogenic | 0.721 | pathogenic | -0.469 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.542802298 | None | None | N |
| G/C | 0.9726 | likely_pathogenic | 0.9486 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.590092448 | None | None | N |
| G/D | 0.9957 | likely_pathogenic | 0.9918 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.825 | deleterious | D | 0.588881623 | None | None | N |
| G/E | 0.9971 | likely_pathogenic | 0.9946 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/F | 0.9977 | likely_pathogenic | 0.9967 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/H | 0.999 | likely_pathogenic | 0.9981 | pathogenic | -1.079 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/I | 0.9955 | likely_pathogenic | 0.9919 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/K | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -1.128 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/L | 0.9939 | likely_pathogenic | 0.9909 | pathogenic | -0.119 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| G/M | 0.9983 | likely_pathogenic | 0.9967 | pathogenic | -0.199 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/N | 0.997 | likely_pathogenic | 0.995 | pathogenic | -0.815 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/P | 0.9991 | likely_pathogenic | 0.9983 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Q | 0.9978 | likely_pathogenic | 0.9958 | pathogenic | -0.954 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/R | 0.9959 | likely_pathogenic | 0.9931 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.58968884 | None | None | N |
| G/S | 0.8923 | likely_pathogenic | 0.8094 | pathogenic | -1.02 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.589083427 | None | None | N |
| G/T | 0.9877 | likely_pathogenic | 0.9745 | pathogenic | -0.984 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/V | 0.9896 | likely_pathogenic | 0.9808 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.789 | deleterious | D | 0.58968884 | None | None | N |
| G/W | 0.9974 | likely_pathogenic | 0.9956 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| G/Y | 0.9984 | likely_pathogenic | 0.9976 | pathogenic | -0.743 | Destabilizing | 1.0 | D | 0.781 | 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.