Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33863 | 101812;101813;101814 | chr2:178535028;178535027;178535026 | chr2:179399755;179399754;179399753 |
| N2AB | 32222 | 96889;96890;96891 | chr2:178535028;178535027;178535026 | chr2:179399755;179399754;179399753 |
| N2A | 31295 | 94108;94109;94110 | chr2:178535028;178535027;178535026 | chr2:179399755;179399754;179399753 |
| N2B | 24798 | 74617;74618;74619 | chr2:178535028;178535027;178535026 | chr2:179399755;179399754;179399753 |
| Novex-1 | 24923 | 74992;74993;74994 | chr2:178535028;178535027;178535026 | chr2:179399755;179399754;179399753 |
| Novex-2 | 24990 | 75193;75194;75195 | chr2:178535028;178535027;178535026 | chr2:179399755;179399754;179399753 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 51
- Q(SASA): 0.1064
- Predicted PPI site: N
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/G | None | None | None | D | None | 0.89 | 0.736894371935 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| E/K | rs1690803197  |
None | None | D | None | 0.823 | None | gnomAD-4.0.0 | 3.18234E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71553E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.8957 | likely_pathogenic | 0.903 | pathogenic | -1.147 | Destabilizing | None | None | None | None | D | 0.621793616 | None | None | N |
| E/C | 0.994 | likely_pathogenic | 0.9941 | pathogenic | -0.766 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.905 | likely_pathogenic | 0.8961 | pathogenic | -1.697 | Destabilizing | None | None | None | None | D | 0.620784595 | None | None | N |
| E/F | 0.9967 | likely_pathogenic | 0.9966 | pathogenic | -1.177 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.9194 | likely_pathogenic | 0.9054 | pathogenic | -1.54 | Destabilizing | None | None | None | None | D | 0.628728196 | None | None | N |
| E/H | 0.9857 | likely_pathogenic | 0.9866 | pathogenic | -1.238 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9799 | likely_pathogenic | 0.9766 | pathogenic | -0.045 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.962 | likely_pathogenic | 0.9544 | pathogenic | -0.945 | Destabilizing | None | None | None | None | D | 0.628526391 | None | None | N |
| E/L | 0.9876 | likely_pathogenic | 0.9884 | pathogenic | -0.045 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.981 | likely_pathogenic | 0.9783 | pathogenic | 0.575 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.9686 | likely_pathogenic | 0.9689 | pathogenic | -1.391 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9987 | likely_pathogenic | 0.9975 | pathogenic | -0.394 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.8612 | likely_pathogenic | 0.8483 | pathogenic | -1.115 | Destabilizing | None | None | None | None | D | 0.628526391 | None | None | N |
| E/R | 0.9735 | likely_pathogenic | 0.97 | pathogenic | -0.934 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.9528 | likely_pathogenic | 0.9499 | pathogenic | -1.932 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.9607 | likely_pathogenic | 0.9571 | pathogenic | -1.543 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.9488 | likely_pathogenic | 0.944 | pathogenic | -0.394 | Destabilizing | None | None | None | None | D | 0.622197225 | None | None | N |
| E/W | 0.9987 | likely_pathogenic | 0.9986 | pathogenic | -1.265 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9901 | likely_pathogenic | 0.9915 | pathogenic | -0.96 | Destabilizing | None | None | None | None | 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.