Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19714 | 59365;59366;59367 | chr2:178592979;178592978;178592977 | chr2:179457706;179457705;179457704 |
| N2AB | 18073 | 54442;54443;54444 | chr2:178592979;178592978;178592977 | chr2:179457706;179457705;179457704 |
| N2A | 17146 | 51661;51662;51663 | chr2:178592979;178592978;178592977 | chr2:179457706;179457705;179457704 |
| N2B | 10649 | 32170;32171;32172 | chr2:178592979;178592978;178592977 | chr2:179457706;179457705;179457704 |
| Novex-1 | 10774 | 32545;32546;32547 | chr2:178592979;178592978;178592977 | chr2:179457706;179457705;179457704 |
| Novex-2 | 10841 | 32746;32747;32748 | chr2:178592979;178592978;178592977 | chr2:179457706;179457705;179457704 |
| 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/D | None | None | 1.0 | N | 0.831 | 0.588 | 0.521491996246 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77608E-05 | None | 0 | 0 | 0 | 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 | 0.7576 | likely_pathogenic | 0.7602 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.628 | neutral | N | 0.5038749 | None | None | N |
| G/C | 0.9233 | likely_pathogenic | 0.9234 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.805 | deleterious | N | 0.509928515 | None | None | N |
| G/D | 0.9883 | likely_pathogenic | 0.9892 | pathogenic | -2.158 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.505445063 | None | None | N |
| G/E | 0.9931 | likely_pathogenic | 0.9931 | pathogenic | -2.032 | Highly Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/F | 0.9936 | likely_pathogenic | 0.9951 | pathogenic | -0.689 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/H | 0.9913 | likely_pathogenic | 0.9925 | pathogenic | -1.795 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/I | 0.9956 | likely_pathogenic | 0.996 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| G/K | 0.9964 | likely_pathogenic | 0.9964 | pathogenic | -1.153 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| G/L | 0.9923 | likely_pathogenic | 0.9935 | pathogenic | 0.1 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| G/M | 0.9958 | likely_pathogenic | 0.9966 | pathogenic | -0.143 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/N | 0.9827 | likely_pathogenic | 0.9873 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| G/Q | 0.9913 | likely_pathogenic | 0.9917 | pathogenic | -1.181 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| G/R | 0.9879 | likely_pathogenic | 0.9877 | pathogenic | -1.191 | Destabilizing | 1.0 | D | 0.863 | deleterious | N | 0.493479646 | None | None | N |
| G/S | 0.7882 | likely_pathogenic | 0.7924 | pathogenic | -1.543 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | D | 0.527199859 | None | None | N |
| G/T | 0.9772 | likely_pathogenic | 0.976 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| G/V | 0.988 | likely_pathogenic | 0.9888 | pathogenic | -0.156 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.546515418 | None | None | N |
| G/W | 0.9876 | likely_pathogenic | 0.9887 | pathogenic | -1.453 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| G/Y | 0.9842 | likely_pathogenic | 0.9873 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.843 | deleterious | 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.