Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32843 | 98752;98753;98754 | chr2:178539538;178539537;178539536 | chr2:179404265;179404264;179404263 |
| N2AB | 31202 | 93829;93830;93831 | chr2:178539538;178539537;178539536 | chr2:179404265;179404264;179404263 |
| N2A | 30275 | 91048;91049;91050 | chr2:178539538;178539537;178539536 | chr2:179404265;179404264;179404263 |
| N2B | 23778 | 71557;71558;71559 | chr2:178539538;178539537;178539536 | chr2:179404265;179404264;179404263 |
| Novex-1 | 23903 | 71932;71933;71934 | chr2:178539538;178539537;178539536 | chr2:179404265;179404264;179404263 |
| Novex-2 | 23970 | 72133;72134;72135 | chr2:178539538;178539537;178539536 | chr2:179404265;179404264;179404263 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/C | None | None | 1.0 | N | 0.695 | 0.601 | 0.307648195649 | gnomAD-4.0.0 | 1.59116E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77254E-05 | None | 0 | 0 | 0 | 0 | 0 |
| W/G | rs765326523  |
-2.913 | 1.0 | N | 0.69 | 0.592 | 0.349204839081 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| W/G | rs765326523 |
-2.913 | 1.0 | N | 0.69 | 0.592 | 0.349204839081 | gnomAD-4.0.0 | 1.59114E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43271E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| W/A | 0.9767 | likely_pathogenic | 0.948 | pathogenic | -3.091 | Highly Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| W/C | 0.9889 | likely_pathogenic | 0.9735 | pathogenic | -1.309 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | N | 0.521493451 | None | None | N |
| W/D | 0.9947 | likely_pathogenic | 0.9894 | pathogenic | -1.778 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| W/E | 0.9968 | likely_pathogenic | 0.9928 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| W/F | 0.6553 | likely_pathogenic | 0.5761 | pathogenic | -1.918 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| W/G | 0.9479 | likely_pathogenic | 0.8923 | pathogenic | -3.286 | Highly Destabilizing | 1.0 | D | 0.69 | prob.neutral | N | 0.520732982 | None | None | N |
| W/H | 0.9881 | likely_pathogenic | 0.9766 | pathogenic | -1.551 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| W/I | 0.9798 | likely_pathogenic | 0.9579 | pathogenic | -2.378 | Highly Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| W/K | 0.9987 | likely_pathogenic | 0.997 | pathogenic | -1.637 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/L | 0.9441 | likely_pathogenic | 0.8949 | pathogenic | -2.378 | Highly Destabilizing | 1.0 | D | 0.69 | prob.neutral | N | 0.505386978 | None | None | N |
| W/M | 0.9865 | likely_pathogenic | 0.9714 | pathogenic | -1.776 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| W/N | 0.9908 | likely_pathogenic | 0.9815 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | None | None | None | None | N |
| W/P | 0.991 | likely_pathogenic | 0.982 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| W/Q | 0.9984 | likely_pathogenic | 0.9957 | pathogenic | -1.987 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| W/R | 0.9967 | likely_pathogenic | 0.9925 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.753 | deleterious | D | 0.538330258 | None | None | N |
| W/S | 0.9416 | likely_pathogenic | 0.878 | pathogenic | -2.411 | Highly Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.515364158 | None | None | N |
| W/T | 0.9614 | likely_pathogenic | 0.9161 | pathogenic | -2.294 | Highly Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | N |
| W/V | 0.9671 | likely_pathogenic | 0.9318 | pathogenic | -2.633 | Highly Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | N |
| W/Y | 0.7949 | likely_pathogenic | 0.7445 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.609 | neutral | 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.