Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9976 | 30151;30152;30153 | chr2:178704546;178704545;178704544 | chr2:179569273;179569272;179569271 |
| N2AB | 9659 | 29200;29201;29202 | chr2:178704546;178704545;178704544 | chr2:179569273;179569272;179569271 |
| N2A | 8732 | 26419;26420;26421 | chr2:178704546;178704545;178704544 | chr2:179569273;179569272;179569271 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/C | None | None | 1.0 | None | 0.653 | 0.667 | 0.729388315074 | gnomAD-4.0.0 | 1.59247E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86053E-06 | 0 | 0 |
| G/D | rs1183241604  |
-0.906 | 1.0 | None | 0.681 | 0.593 | 0.490074841992 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| G/D | rs1183241604 |
-0.906 | 1.0 | None | 0.681 | 0.593 | 0.490074841992 | gnomAD-4.0.0 | 2.73784E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.5989E-06 | 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 | 0.9783 | likely_pathogenic | 0.9654 | pathogenic | -0.315 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | I |
| G/C | 0.9975 | likely_pathogenic | 0.9952 | pathogenic | -0.865 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| G/D | 0.998 | likely_pathogenic | 0.9951 | pathogenic | -0.799 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| G/E | 0.9981 | likely_pathogenic | 0.9956 | pathogenic | -0.914 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/F | 0.9955 | likely_pathogenic | 0.9933 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | I |
| G/H | 0.9994 | likely_pathogenic | 0.9988 | pathogenic | -0.704 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | I |
| G/I | 0.996 | likely_pathogenic | 0.9932 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | I |
| G/K | 0.9991 | likely_pathogenic | 0.9984 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | I |
| G/L | 0.9925 | likely_pathogenic | 0.9896 | pathogenic | -0.255 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| G/M | 0.9985 | likely_pathogenic | 0.998 | pathogenic | -0.44 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| G/N | 0.9984 | likely_pathogenic | 0.9974 | pathogenic | -0.741 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | I |
| G/P | 0.9969 | likely_pathogenic | 0.9951 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | I |
| G/Q | 0.9988 | likely_pathogenic | 0.9979 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | I |
| G/R | 0.9982 | likely_pathogenic | 0.9962 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| G/S | 0.9701 | likely_pathogenic | 0.9495 | pathogenic | -0.879 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| G/T | 0.9956 | likely_pathogenic | 0.9931 | pathogenic | -0.917 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| G/V | 0.9959 | likely_pathogenic | 0.9924 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | I |
| G/W | 0.9966 | likely_pathogenic | 0.9926 | pathogenic | -1.119 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | I |
| G/Y | 0.9979 | likely_pathogenic | 0.9963 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.639 | neutral | 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.