Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24890 | 74893;74894;74895 | chr2:178571464;178571463;178571462 | chr2:179436191;179436190;179436189 |
| N2AB | 23249 | 69970;69971;69972 | chr2:178571464;178571463;178571462 | chr2:179436191;179436190;179436189 |
| N2A | 22322 | 67189;67190;67191 | chr2:178571464;178571463;178571462 | chr2:179436191;179436190;179436189 |
| N2B | 15825 | 47698;47699;47700 | chr2:178571464;178571463;178571462 | chr2:179436191;179436190;179436189 |
| Novex-1 | 15950 | 48073;48074;48075 | chr2:178571464;178571463;178571462 | chr2:179436191;179436190;179436189 |
| Novex-2 | 16017 | 48274;48275;48276 | chr2:178571464;178571463;178571462 | chr2:179436191;179436190;179436189 |
| 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/R | None | None | 1.0 | D | 0.936 | 0.542 | 0.726967397476 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.75482E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.9625 | likely_pathogenic | 0.9608 | pathogenic | -0.806 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.540735882 | None | None | I |
| G/C | 0.9781 | likely_pathogenic | 0.9778 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.882 | deleterious | None | None | None | None | I |
| G/D | 0.9942 | likely_pathogenic | 0.9936 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.935 | deleterious | None | None | None | None | I |
| G/E | 0.9955 | likely_pathogenic | 0.9947 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.928 | deleterious | D | 0.564120056 | None | None | I |
| G/F | 0.9968 | likely_pathogenic | 0.9968 | pathogenic | -1.254 | Destabilizing | 1.0 | D | 0.904 | deleterious | None | None | None | None | I |
| G/H | 0.9962 | likely_pathogenic | 0.996 | pathogenic | -1.134 | Destabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | I |
| G/I | 0.9973 | likely_pathogenic | 0.9975 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.909 | deleterious | None | None | None | None | I |
| G/K | 0.9962 | likely_pathogenic | 0.9957 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | I |
| G/L | 0.9954 | likely_pathogenic | 0.9956 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/M | 0.9982 | likely_pathogenic | 0.9982 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/N | 0.9939 | likely_pathogenic | 0.9934 | pathogenic | -0.924 | Destabilizing | 1.0 | D | 0.878 | deleterious | None | None | None | None | I |
| G/P | 0.9995 | likely_pathogenic | 0.9996 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | I |
| G/Q | 0.9902 | likely_pathogenic | 0.9893 | pathogenic | -1.218 | Destabilizing | 1.0 | D | 0.932 | deleterious | None | None | None | None | I |
| G/R | 0.9836 | likely_pathogenic | 0.9818 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.936 | deleterious | D | 0.552599167 | None | None | I |
| G/S | 0.9067 | likely_pathogenic | 0.8999 | pathogenic | -1.126 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/T | 0.9907 | likely_pathogenic | 0.9905 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | I |
| G/V | 0.995 | likely_pathogenic | 0.9951 | pathogenic | -0.673 | Destabilizing | 1.0 | D | 0.905 | deleterious | D | 0.552092188 | None | None | I |
| G/W | 0.993 | likely_pathogenic | 0.9929 | pathogenic | -1.457 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.564880525 | None | None | I |
| G/Y | 0.9957 | likely_pathogenic | 0.9957 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.903 | 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.