Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32634 | 98125;98126;98127 | chr2:178540266;178540265;178540264 | chr2:179404993;179404992;179404991 |
| N2AB | 30993 | 93202;93203;93204 | chr2:178540266;178540265;178540264 | chr2:179404993;179404992;179404991 |
| N2A | 30066 | 90421;90422;90423 | chr2:178540266;178540265;178540264 | chr2:179404993;179404992;179404991 |
| N2B | 23569 | 70930;70931;70932 | chr2:178540266;178540265;178540264 | chr2:179404993;179404992;179404991 |
| Novex-1 | 23694 | 71305;71306;71307 | chr2:178540266;178540265;178540264 | chr2:179404993;179404992;179404991 |
| Novex-2 | 23761 | 71506;71507;71508 | chr2:178540266;178540265;178540264 | chr2:179404993;179404992;179404991 |
| 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/A | rs752930173  |
-0.602 | 1.0 | N | 0.609 | 0.479 | 0.405012372841 | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 1.23967E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs752930173 |
-0.602 | 1.0 | N | 0.609 | 0.479 | 0.405012372841 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 9.65E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs752930173 |
-0.602 | 1.0 | N | 0.609 | 0.479 | 0.405012372841 | gnomAD-4.0.0 | 6.81655E-06 | None | None | None | None | N | None | 1.06812E-04 | 1.66672E-05 | None | 0 | 0 | None | 0 | 0 | 8.4761E-07 | 0 | 1.60092E-05 |
| G/D | None | -2.079 | 1.0 | N | 0.843 | 0.6 | 0.489518205163 | gnomAD-2.1.1 | 7.13E-06 | None | None | None | None | N | None | 8.26E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | None | -2.079 | 1.0 | N | 0.843 | 0.6 | 0.489518205163 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | None | -2.079 | 1.0 | N | 0.843 | 0.6 | 0.489518205163 | gnomAD-4.0.0 | 1.85906E-06 | None | None | None | None | N | None | 2.6703E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60092E-05 |
| G/V | rs752930173 |
None | 1.0 | D | 0.897 | 0.518 | 0.705542449344 | gnomAD-4.0.0 | 6.84189E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99462E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.7787 | likely_pathogenic | 0.7733 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.609 | neutral | N | 0.486922734 | None | None | N |
| G/C | 0.9533 | likely_pathogenic | 0.9466 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.529678611 | None | None | N |
| G/D | 0.9809 | likely_pathogenic | 0.9818 | pathogenic | -1.748 | Destabilizing | 1.0 | D | 0.843 | deleterious | N | 0.507420073 | None | None | N |
| G/E | 0.9902 | likely_pathogenic | 0.9905 | pathogenic | -1.743 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| G/F | 0.9976 | likely_pathogenic | 0.9974 | pathogenic | -1.058 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| G/H | 0.9939 | likely_pathogenic | 0.9937 | pathogenic | -1.52 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/I | 0.9976 | likely_pathogenic | 0.9978 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| G/K | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.892 | deleterious | None | None | None | None | N |
| G/L | 0.9965 | likely_pathogenic | 0.9967 | pathogenic | -0.298 | Destabilizing | 1.0 | D | 0.894 | deleterious | None | None | None | None | N |
| G/M | 0.9974 | likely_pathogenic | 0.9974 | pathogenic | -0.333 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/N | 0.9857 | likely_pathogenic | 0.9854 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/P | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | N |
| G/Q | 0.9907 | likely_pathogenic | 0.9905 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.868 | deleterious | None | None | None | None | N |
| G/R | 0.9875 | likely_pathogenic | 0.989 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.879 | deleterious | N | 0.50516512 | None | None | N |
| G/S | 0.7141 | likely_pathogenic | 0.7192 | pathogenic | -1.438 | Destabilizing | 1.0 | D | 0.664 | neutral | N | 0.484489971 | None | None | N |
| G/T | 0.9805 | likely_pathogenic | 0.9803 | pathogenic | -1.353 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| G/V | 0.9935 | likely_pathogenic | 0.9939 | pathogenic | -0.442 | Destabilizing | 1.0 | D | 0.897 | deleterious | D | 0.528411163 | None | None | N |
| G/W | 0.9926 | likely_pathogenic | 0.9931 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/Y | 0.9928 | likely_pathogenic | 0.9921 | pathogenic | -1.067 | Destabilizing | 1.0 | D | 0.859 | 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.