Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3366 | 10321;10322;10323 | chr2:178764195;178764194;178764193 | chr2:179628922;179628921;179628920 |
| N2AB | 3366 | 10321;10322;10323 | chr2:178764195;178764194;178764193 | chr2:179628922;179628921;179628920 |
| N2A | 3366 | 10321;10322;10323 | chr2:178764195;178764194;178764193 | chr2:179628922;179628921;179628920 |
| N2B | 3320 | 10183;10184;10185 | chr2:178764195;178764194;178764193 | chr2:179628922;179628921;179628920 |
| Novex-1 | 3320 | 10183;10184;10185 | chr2:178764195;178764194;178764193 | chr2:179628922;179628921;179628920 |
| Novex-2 | 3320 | 10183;10184;10185 | chr2:178764195;178764194;178764193 | chr2:179628922;179628921;179628920 |
| Novex-3 | 3366 | 10321;10322;10323 | chr2:178764195;178764194;178764193 | chr2:179628922;179628921;179628920 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | None | None | 1.0 | D | 0.827 | 0.913 | 0.855352521839 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/Y | None | None | 1.0 | D | 0.925 | 0.933 | 0.88699186517 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.7342 | likely_pathogenic | 0.6827 | pathogenic | -1.377 | Destabilizing | 0.998 | D | 0.7 | prob.neutral | None | None | None | None | N |
| C/D | 0.9972 | likely_pathogenic | 0.9969 | pathogenic | -1.594 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/E | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.924 | deleterious | None | None | None | None | N |
| C/F | 0.7613 | likely_pathogenic | 0.7686 | pathogenic | -0.816 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.755415398 | None | None | N |
| C/G | 0.494 | ambiguous | 0.4257 | ambiguous | -1.728 | Destabilizing | 1.0 | D | 0.889 | deleterious | D | 0.740282164 | None | None | N |
| C/H | 0.9905 | likely_pathogenic | 0.9902 | pathogenic | -1.991 | Destabilizing | 1.0 | D | 0.925 | deleterious | None | None | None | None | N |
| C/I | 0.7937 | likely_pathogenic | 0.7826 | pathogenic | -0.421 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| C/K | 0.9987 | likely_pathogenic | 0.9989 | pathogenic | -0.89 | Destabilizing | 1.0 | D | 0.897 | deleterious | None | None | None | None | N |
| C/L | 0.7994 | likely_pathogenic | 0.7934 | pathogenic | -0.421 | Destabilizing | 0.999 | D | 0.773 | deleterious | None | None | None | None | N |
| C/M | 0.9128 | likely_pathogenic | 0.9091 | pathogenic | -0.267 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| C/N | 0.9838 | likely_pathogenic | 0.978 | pathogenic | -1.598 | Destabilizing | 1.0 | D | 0.922 | deleterious | None | None | None | None | N |
| C/P | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -0.719 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | N |
| C/Q | 0.9939 | likely_pathogenic | 0.9935 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| C/R | 0.989 | likely_pathogenic | 0.99 | pathogenic | -1.487 | Destabilizing | 1.0 | D | 0.929 | deleterious | D | 0.810322156 | None | None | N |
| C/S | 0.7745 | likely_pathogenic | 0.6921 | pathogenic | -1.812 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.673109648 | None | None | N |
| C/T | 0.8498 | likely_pathogenic | 0.8161 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| C/V | 0.6436 | likely_pathogenic | 0.6337 | pathogenic | -0.719 | Destabilizing | 0.999 | D | 0.799 | deleterious | None | None | None | None | N |
| C/W | 0.976 | likely_pathogenic | 0.977 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.906 | deleterious | D | 0.810322156 | None | None | N |
| C/Y | 0.9184 | likely_pathogenic | 0.923 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.755415398 | 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.