Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33893 | 101902;101903;101904 | chr2:178534938;178534937;178534936 | chr2:179399665;179399664;179399663 |
| N2AB | 32252 | 96979;96980;96981 | chr2:178534938;178534937;178534936 | chr2:179399665;179399664;179399663 |
| N2A | 31325 | 94198;94199;94200 | chr2:178534938;178534937;178534936 | chr2:179399665;179399664;179399663 |
| N2B | 24828 | 74707;74708;74709 | chr2:178534938;178534937;178534936 | chr2:179399665;179399664;179399663 |
| Novex-1 | 24953 | 75082;75083;75084 | chr2:178534938;178534937;178534936 | chr2:179399665;179399664;179399663 |
| Novex-2 | 25020 | 75283;75284;75285 | chr2:178534938;178534937;178534936 | chr2:179399665;179399664;179399663 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAG
- RefSeq wild type template codon: CTC
- Domain: Kinase-1
- Domain position: 81
- Q(SASA): 0.1375
- 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/D | rs764487443  |
-1.383 | None | N | None | 0.309 | 0.298745278005 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| E/D | rs764487443 |
-1.383 | None | N | None | 0.309 | 0.298745278005 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| E/D | rs764487443 |
-1.383 | None | N | None | 0.309 | 0.298745278005 | gnomAD-4.0.0 | 6.20361E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47629E-06 | 0 | 0 |
| E/K | None | None | None | D | None | 0.725 | 0.424194796918 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-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 | 0.8373 | likely_pathogenic | 0.8037 | pathogenic | -0.193 | Destabilizing | None | None | None | None | D | 0.530824835 | None | None | N |
| E/C | 0.9823 | likely_pathogenic | 0.98 | pathogenic | -0.195 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/D | 0.6837 | likely_pathogenic | 0.647 | pathogenic | -1.501 | Destabilizing | None | None | None | None | N | 0.505790011 | None | None | N |
| E/F | 0.9943 | likely_pathogenic | 0.9925 | pathogenic | 0.591 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/G | 0.8397 | likely_pathogenic | 0.8049 | pathogenic | -0.665 | Destabilizing | None | None | None | None | D | 0.53766169 | None | None | N |
| E/H | 0.9488 | likely_pathogenic | 0.932 | pathogenic | 0.141 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/I | 0.9776 | likely_pathogenic | 0.9713 | pathogenic | 1.122 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/K | 0.8922 | likely_pathogenic | 0.8434 | pathogenic | -0.831 | Destabilizing | None | None | None | None | D | 0.525544916 | None | None | N |
| E/L | 0.9743 | likely_pathogenic | 0.9682 | pathogenic | 1.122 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/M | 0.9757 | likely_pathogenic | 0.972 | pathogenic | 1.608 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/N | 0.8833 | likely_pathogenic | 0.8661 | pathogenic | -1.416 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/P | 0.9866 | likely_pathogenic | 0.9852 | pathogenic | 0.707 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Q | 0.6021 | likely_pathogenic | 0.5196 | ambiguous | -1.085 | Destabilizing | None | None | None | None | N | 0.507187172 | None | None | N |
| E/R | 0.8887 | likely_pathogenic | 0.8312 | pathogenic | -0.664 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/S | 0.7757 | likely_pathogenic | 0.7337 | pathogenic | -1.816 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/T | 0.9012 | likely_pathogenic | 0.8804 | pathogenic | -1.407 | Destabilizing | None | None | None | None | None | None | None | None | N |
| E/V | 0.9465 | likely_pathogenic | 0.9316 | pathogenic | 0.707 | Stabilizing | None | None | None | None | D | 0.53791518 | None | None | N |
| E/W | 0.9971 | likely_pathogenic | 0.9961 | pathogenic | 0.579 | Stabilizing | None | None | None | None | None | None | None | None | N |
| E/Y | 0.9836 | likely_pathogenic | 0.9789 | pathogenic | 0.778 | 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.