Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18866 | 56821;56822;56823 | chr2:178599197;178599196;178599195 | chr2:179463924;179463923;179463922 |
| N2AB | 17225 | 51898;51899;51900 | chr2:178599197;178599196;178599195 | chr2:179463924;179463923;179463922 |
| N2A | 16298 | 49117;49118;49119 | chr2:178599197;178599196;178599195 | chr2:179463924;179463923;179463922 |
| N2B | 9801 | 29626;29627;29628 | chr2:178599197;178599196;178599195 | chr2:179463924;179463923;179463922 |
| Novex-1 | 9926 | 30001;30002;30003 | chr2:178599197;178599196;178599195 | chr2:179463924;179463923;179463922 |
| Novex-2 | 9993 | 30202;30203;30204 | chr2:178599197;178599196;178599195 | chr2:179463924;179463923;179463922 |
| 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 | D | 0.873 | 0.682 | 0.744719522016 | gnomAD-4.0.0 | 1.89314E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.27058E-06 | 0 | 0 |
| G/D | None | None | 1.0 | D | 0.923 | 0.697 | 0.523650220922 | gnomAD-4.0.0 | 1.89259E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.27041E-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 | 0.9104 | likely_pathogenic | 0.9099 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.508641976 | None | None | I |
| G/C | 0.9543 | likely_pathogenic | 0.952 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.873 | deleterious | D | 0.553195051 | None | None | I |
| G/D | 0.9725 | likely_pathogenic | 0.9688 | pathogenic | -1.259 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.526190026 | None | None | I |
| G/E | 0.9872 | likely_pathogenic | 0.9857 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/F | 0.9937 | likely_pathogenic | 0.9931 | pathogenic | -1.206 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | I |
| G/H | 0.9881 | likely_pathogenic | 0.9866 | pathogenic | -1.157 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | I |
| G/I | 0.9926 | likely_pathogenic | 0.9924 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.9 | deleterious | None | None | None | None | I |
| G/K | 0.9889 | likely_pathogenic | 0.9872 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/L | 0.9902 | likely_pathogenic | 0.9899 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| G/M | 0.995 | likely_pathogenic | 0.9948 | pathogenic | -0.5 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
| G/N | 0.9799 | likely_pathogenic | 0.9779 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | I |
| G/P | 0.999 | likely_pathogenic | 0.999 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.915 | deleterious | None | None | None | None | I |
| G/Q | 0.9799 | likely_pathogenic | 0.9771 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.923 | deleterious | None | None | None | None | I |
| G/R | 0.9616 | likely_pathogenic | 0.9572 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.925 | deleterious | D | 0.541078277 | None | None | I |
| G/S | 0.8205 | likely_pathogenic | 0.8036 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.868 | deleterious | D | 0.533569859 | None | None | I |
| G/T | 0.9738 | likely_pathogenic | 0.9722 | pathogenic | -1.225 | Destabilizing | 1.0 | D | 0.913 | deleterious | None | None | None | None | I |
| G/V | 0.9866 | likely_pathogenic | 0.9864 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.893 | deleterious | N | 0.517694103 | None | None | I |
| G/W | 0.9852 | likely_pathogenic | 0.9833 | pathogenic | -1.435 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | I |
| G/Y | 0.9888 | likely_pathogenic | 0.9875 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.894 | 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.