Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33867 | 101824;101825;101826 | chr2:178535016;178535015;178535014 | chr2:179399743;179399742;179399741 |
| N2AB | 32226 | 96901;96902;96903 | chr2:178535016;178535015;178535014 | chr2:179399743;179399742;179399741 |
| N2A | 31299 | 94120;94121;94122 | chr2:178535016;178535015;178535014 | chr2:179399743;179399742;179399741 |
| N2B | 24802 | 74629;74630;74631 | chr2:178535016;178535015;178535014 | chr2:179399743;179399742;179399741 |
| Novex-1 | 24927 | 75004;75005;75006 | chr2:178535016;178535015;178535014 | chr2:179399743;179399742;179399741 |
| Novex-2 | 24994 | 75205;75206;75207 | chr2:178535016;178535015;178535014 | chr2:179399743;179399742;179399741 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: L
- RefSeq wild type transcript codon: CTG
- RefSeq wild type template codon: GAC
- Domain: Kinase-1
- Domain position: 55
- Q(SASA): 0.1207
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/M | None | None | None | N | None | 0.226 | 0.566263476786 | gnomAD-4.0.0 | 1.36841E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-06 | 0 | 0 |
| L/V | rs76194811  |
-1.481 | None | N | None | 0.345 | None | gnomAD-2.1.1 | 8.03E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11383E-03 | None | 0 | None | 0 | 0 | 0 |
| L/V | rs76194811 |
-1.481 | None | N | None | 0.345 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 5.7759E-04 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| L/V | rs76194811 |
-1.481 | None | N | None | 0.345 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| L/V | rs76194811 |
-1.481 | None | N | None | 0.345 | None | gnomAD-4.0.0 | 4.77136E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.4485E-03 | None | 0 | 0 | 8.47574E-06 | 0 | 3.20082E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8629 | likely_pathogenic | 0.7766 | pathogenic | -2.533 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/C | 0.8649 | likely_pathogenic | 0.8234 | pathogenic | -1.837 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/D | 0.9938 | likely_pathogenic | 0.9831 | pathogenic | -2.863 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/E | 0.9654 | likely_pathogenic | 0.9164 | pathogenic | -2.6 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/F | 0.5308 | ambiguous | 0.3807 | ambiguous | -1.48 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/G | 0.9651 | likely_pathogenic | 0.926 | pathogenic | -3.118 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/H | 0.8993 | likely_pathogenic | 0.8098 | pathogenic | -2.718 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/I | 0.3878 | ambiguous | 0.3242 | benign | -0.825 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/K | 0.9394 | likely_pathogenic | 0.8607 | pathogenic | -1.974 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/M | 0.3135 | likely_benign | 0.2613 | benign | -0.845 | Destabilizing | None | None | None | None | N | 0.47464788 | None | None | N |
| L/N | 0.9558 | likely_pathogenic | 0.913 | pathogenic | -2.408 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/P | 0.9912 | likely_pathogenic | 0.9719 | pathogenic | -1.377 | Destabilizing | None | None | None | None | N | 0.513791812 | None | None | N |
| L/Q | 0.8358 | likely_pathogenic | 0.7133 | pathogenic | -2.177 | Highly Destabilizing | None | None | None | None | N | 0.472556872 | None | None | N |
| L/R | 0.8907 | likely_pathogenic | 0.7915 | pathogenic | -1.834 | Destabilizing | None | None | None | None | N | 0.492965305 | None | None | N |
| L/S | 0.9297 | likely_pathogenic | 0.8662 | pathogenic | -3.105 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/T | 0.8603 | likely_pathogenic | 0.7491 | pathogenic | -2.685 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| L/V | 0.4621 | ambiguous | 0.3895 | ambiguous | -1.377 | Destabilizing | None | None | None | None | N | 0.485772829 | None | None | N |
| L/W | 0.8302 | likely_pathogenic | 0.7093 | pathogenic | -1.932 | Destabilizing | None | None | None | None | None | None | None | None | N |
| L/Y | 0.8867 | likely_pathogenic | 0.8024 | pathogenic | -1.625 | 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.