Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34035 | 102328;102329;102330 | chr2:178534512;178534511;178534510 | chr2:179399239;179399238;179399237 |
| N2AB | 32394 | 97405;97406;97407 | chr2:178534512;178534511;178534510 | chr2:179399239;179399238;179399237 |
| N2A | 31467 | 94624;94625;94626 | chr2:178534512;178534511;178534510 | chr2:179399239;179399238;179399237 |
| N2B | 24970 | 75133;75134;75135 | chr2:178534512;178534511;178534510 | chr2:179399239;179399238;179399237 |
| Novex-1 | 25095 | 75508;75509;75510 | chr2:178534512;178534511;178534510 | chr2:179399239;179399238;179399237 |
| Novex-2 | 25162 | 75709;75710;75711 | chr2:178534512;178534511;178534510 | chr2:179399239;179399238;179399237 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: D
- RefSeq wild type transcript codon: GAT
- RefSeq wild type template codon: CTA
- Domain: Kinase-1
- Domain position: 223
- Q(SASA): 0.2044
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs370647845  |
-0.452 | None | N | None | 0.142 | 0.218845423259 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.13E-05 | 0 |
| D/E | rs370647845 |
-0.452 | None | N | None | 0.142 | 0.218845423259 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| D/E | rs370647845 |
-0.452 | None | N | None | 0.142 | 0.218845423259 | gnomAD-4.0.0 | 1.61122E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.2038E-05 | 0 | 0 |
| D/N | rs144963736 |
-0.72 | None | N | None | 0.328 | None | gnomAD-2.1.1 | 9.46118E-04 | None | None | None | None | N | None | 9.13148E-03 | 1.10288E-03 | None | 0 | 5.12E-05 | None | 0 | None | 0 | 3.13E-05 | 0 |
| D/N | rs144963736 |
-0.72 | None | N | None | 0.328 | None | gnomAD-3.1.2 | 2.52333E-03 | None | None | None | None | N | None | 8.88117E-03 | 5.23834E-04 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 4.41E-05 | 0 | 1.91205E-03 |
| D/N | rs144963736 |
-0.72 | None | N | None | 0.328 | None | 1000 genomes | 2.99521E-03 | None | None | None | None | N | None | 9.8E-03 | 2.9E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| D/N | rs144963736 |
-0.72 | None | N | None | 0.328 | None | gnomAD-4.0.0 | 4.97589E-04 | None | None | None | None | N | None | 9.34318E-03 | 8.9982E-04 | None | 0 | 2.22787E-05 | None | 0 | 1.64962E-04 | 1.35617E-05 | 0 | 4.80154E-04 |
| D/Y | rs144963736 |
0.392 | None | N | None | 0.431 | 0.742000947324 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/Y | rs144963736 |
0.392 | None | N | None | 0.431 | 0.742000947324 | 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 |
| D/Y | rs144963736 |
0.392 | None | N | None | 0.431 | 0.742000947324 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46994E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5891 | likely_pathogenic | 0.6275 | pathogenic | -0.386 | Destabilizing | None | None | None | None | N | 0.521898401 | None | None | N |
| D/C | 0.9004 | likely_pathogenic | 0.8973 | pathogenic | -0.138 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.3721 | ambiguous | 0.4878 | ambiguous | -0.519 | Destabilizing | None | None | None | None | N | 0.460772584 | None | None | N |
| D/F | 0.9527 | likely_pathogenic | 0.9513 | pathogenic | 0.249 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.527 | ambiguous | 0.5849 | pathogenic | -0.751 | Destabilizing | None | None | None | None | N | 0.511086762 | None | None | N |
| D/H | 0.6461 | likely_pathogenic | 0.6701 | pathogenic | 0.103 | Stabilizing | None | None | None | None | N | 0.492327642 | None | None | N |
| D/I | 0.8912 | likely_pathogenic | 0.8995 | pathogenic | 0.58 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.7596 | likely_pathogenic | 0.8028 | pathogenic | -0.062 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.8219 | likely_pathogenic | 0.8391 | pathogenic | 0.58 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9436 | likely_pathogenic | 0.9538 | pathogenic | 0.871 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.2846 | likely_benign | 0.309 | benign | -0.684 | Destabilizing | None | None | None | None | N | 0.491634209 | None | None | N |
| D/P | 0.881 | likely_pathogenic | 0.9004 | pathogenic | 0.284 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.6753 | likely_pathogenic | 0.7585 | pathogenic | -0.507 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.7357 | likely_pathogenic | 0.7729 | pathogenic | 0.186 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.296 | likely_benign | 0.3068 | benign | -0.893 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.5731 | likely_pathogenic | 0.6006 | pathogenic | -0.579 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.7451 | likely_pathogenic | 0.7577 | pathogenic | 0.284 | Stabilizing | None | None | None | None | N | 0.504526149 | None | None | N |
| D/W | 0.9779 | likely_pathogenic | 0.9795 | pathogenic | 0.504 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.7061 | likely_pathogenic | 0.7069 | pathogenic | 0.532 | Stabilizing | None | None | None | None | N | 0.520591679 | 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.