Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33915 | 101968;101969;101970 | chr2:178534872;178534871;178534870 | chr2:179399599;179399598;179399597 |
| N2AB | 32274 | 97045;97046;97047 | chr2:178534872;178534871;178534870 | chr2:179399599;179399598;179399597 |
| N2A | 31347 | 94264;94265;94266 | chr2:178534872;178534871;178534870 | chr2:179399599;179399598;179399597 |
| N2B | 24850 | 74773;74774;74775 | chr2:178534872;178534871;178534870 | chr2:179399599;179399598;179399597 |
| Novex-1 | 24975 | 75148;75149;75150 | chr2:178534872;178534871;178534870 | chr2:179399599;179399598;179399597 |
| Novex-2 | 25042 | 75349;75350;75351 | chr2:178534872;178534871;178534870 | chr2:179399599;179399598;179399597 |
| 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: 103
- Q(SASA): 0.1494
- 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/K | rs1690736229  |
None | None | N | None | 0.467 | 0.385578977469 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs1690736229 |
None | None | N | None | 0.467 | 0.385578977469 | gnomAD-4.0.0 | 6.57047E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.4699E-05 | 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 | 0.5268 | ambiguous | 0.4775 | ambiguous | -0.633 | Destabilizing | None | None | None | None | N | 0.498426896 | None | None | N |
| E/C | 0.9764 | likely_pathogenic | 0.9723 | pathogenic | -0.267 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.5532 | ambiguous | 0.5095 | ambiguous | -1.33 | Destabilizing | None | None | None | None | N | 0.43703172 | None | None | N |
| E/F | 0.9737 | likely_pathogenic | 0.9676 | pathogenic | 0.076 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.6674 | likely_pathogenic | 0.6007 | pathogenic | -1.083 | Destabilizing | None | None | None | None | D | 0.536907926 | None | None | N |
| E/H | 0.9107 | likely_pathogenic | 0.8924 | pathogenic | -0.258 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.8547 | likely_pathogenic | 0.8111 | pathogenic | 0.616 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.6908 | likely_pathogenic | 0.6193 | pathogenic | -0.374 | Destabilizing | None | None | None | None | N | 0.493770437 | None | None | N |
| E/L | 0.8873 | likely_pathogenic | 0.8568 | pathogenic | 0.616 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.8652 | likely_pathogenic | 0.827 | pathogenic | 1.163 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.8072 | likely_pathogenic | 0.7594 | pathogenic | -1.139 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9895 | likely_pathogenic | 0.9862 | pathogenic | 0.222 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.4306 | ambiguous | 0.3871 | ambiguous | -0.871 | Destabilizing | None | None | None | None | N | 0.46746927 | None | None | N |
| E/R | 0.7738 | likely_pathogenic | 0.7336 | pathogenic | -0.238 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.7278 | likely_pathogenic | 0.6783 | pathogenic | -1.488 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.7317 | likely_pathogenic | 0.679 | pathogenic | -1.076 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.6914 | likely_pathogenic | 0.6169 | pathogenic | 0.222 | Stabilizing | None | None | None | None | N | 0.488884692 | None | None | N |
| E/W | 0.9923 | likely_pathogenic | 0.9898 | pathogenic | 0.299 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9476 | likely_pathogenic | 0.938 | pathogenic | 0.368 | Stabilizing | 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.