Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4768 | 14527;14528;14529 | chr2:178738151;178738150;178738149 | chr2:179602878;179602877;179602876 |
| N2AB | 4451 | 13576;13577;13578 | chr2:178738151;178738150;178738149 | chr2:179602878;179602877;179602876 |
| N2A | 3524 | 10795;10796;10797 | chr2:178738151;178738150;178738149 | chr2:179602878;179602877;179602876 |
| N2B | 4405 | 13438;13439;13440 | chr2:178738151;178738150;178738149 | chr2:179602878;179602877;179602876 |
| Novex-1 | 4530 | 13813;13814;13815 | chr2:178738151;178738150;178738149 | chr2:179602878;179602877;179602876 |
| Novex-2 | 4597 | 14014;14015;14016 | chr2:178738151;178738150;178738149 | chr2:179602878;179602877;179602876 |
| 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 | rs727503652  |
-0.532 | 1.0 | D | 0.856 | 0.744 | None | gnomAD-2.1.1 | 6.07E-05 | None | None | None | None | I | None | 1.23977E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 9.37E-05 | 1.40489E-04 |
| G/S | rs727503652 |
-0.532 | 1.0 | D | 0.856 | 0.744 | None | gnomAD-3.1.2 | 7.23E-05 | None | None | None | None | I | None | 9.65E-05 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 7.35E-05 | 0 | 4.78927E-04 |
| G/S | rs727503652 |
-0.532 | 1.0 | D | 0.856 | 0.744 | None | gnomAD-4.0.0 | 5.39142E-05 | None | None | None | None | I | None | 8.00854E-05 | 3.33367E-05 | None | 0 | 8.91703E-05 | None | 0 | 0 | 5.59422E-05 | 4.39213E-05 | 8.00589E-05 |
| G/V | rs2081859448 |
None | 1.0 | D | 0.805 | 0.772 | 0.787935859653 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs2081859448 |
None | 1.0 | D | 0.805 | 0.772 | 0.787935859653 | gnomAD-4.0.0 | 6.57134E-06 | None | None | None | None | I | None | 2.41243E-05 | 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 | 0.6341 | likely_pathogenic | 0.6943 | pathogenic | -0.675 | Destabilizing | 1.0 | D | 0.808 | deleterious | D | 0.644798262 | None | None | I |
| G/C | 0.9411 | likely_pathogenic | 0.9435 | pathogenic | -0.876 | Destabilizing | 1.0 | D | 0.787 | deleterious | D | 0.83535367 | None | None | I |
| G/D | 0.9532 | likely_pathogenic | 0.9573 | pathogenic | -0.752 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.729838108 | None | None | I |
| G/E | 0.9723 | likely_pathogenic | 0.9702 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| G/F | 0.9943 | likely_pathogenic | 0.9939 | pathogenic | -0.985 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/H | 0.992 | likely_pathogenic | 0.991 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | I |
| G/I | 0.9931 | likely_pathogenic | 0.9925 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/K | 0.9917 | likely_pathogenic | 0.989 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/L | 0.9872 | likely_pathogenic | 0.9888 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | I |
| G/M | 0.9902 | likely_pathogenic | 0.9915 | pathogenic | -0.207 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/N | 0.973 | likely_pathogenic | 0.9767 | pathogenic | -0.746 | Destabilizing | 0.98 | D | 0.698 | prob.neutral | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9989 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | I |
| G/Q | 0.9678 | likely_pathogenic | 0.9679 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/R | 0.9679 | likely_pathogenic | 0.9573 | pathogenic | -0.828 | Destabilizing | 1.0 | D | 0.834 | deleterious | D | 0.835302606 | None | None | I |
| G/S | 0.6215 | likely_pathogenic | 0.6404 | pathogenic | -1.099 | Destabilizing | 1.0 | D | 0.856 | deleterious | D | 0.802503295 | None | None | I |
| G/T | 0.9503 | likely_pathogenic | 0.9505 | pathogenic | -1.032 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| G/V | 0.9817 | likely_pathogenic | 0.9812 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.805 | deleterious | D | 0.781556022 | None | None | I |
| G/W | 0.9901 | likely_pathogenic | 0.9852 | pathogenic | -1.361 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | I |
| G/Y | 0.9944 | likely_pathogenic | 0.9941 | pathogenic | -0.906 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
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.