Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34103 | 102532;102533;102534 | chr2:178534308;178534307;178534306 | chr2:179399035;179399034;179399033 |
| N2AB | 32462 | 97609;97610;97611 | chr2:178534308;178534307;178534306 | chr2:179399035;179399034;179399033 |
| N2A | 31535 | 94828;94829;94830 | chr2:178534308;178534307;178534306 | chr2:179399035;179399034;179399033 |
| N2B | 25038 | 75337;75338;75339 | chr2:178534308;178534307;178534306 | chr2:179399035;179399034;179399033 |
| Novex-1 | 25163 | 75712;75713;75714 | chr2:178534308;178534307;178534306 | chr2:179399035;179399034;179399033 |
| Novex-2 | 25230 | 75913;75914;75915 | chr2:178534308;178534307;178534306 | chr2:179399035;179399034;179399033 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: N
- RefSeq wild type transcript codon: AAC
- RefSeq wild type template codon: TTG
- Domain: Kinase-1
- Domain position: 291
- Q(SASA): 0.7989
- Predicted PPI site: I
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/D | None | None | None | N | None | 0.094 | 0.0986583533028 | gnomAD-4.0.0 | 6.84271E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65656E-05 |
| N/H | None | None | None | N | None | 0.117 | 0.104622674875 | gnomAD-4.0.0 | 1.36854E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79887E-06 | 0 | 0 |
| N/I | rs557630306  |
0.382 | None | N | None | 0.184 | 0.292787519742 | gnomAD-2.1.1 | 2.86E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 4.09836E-04 | None | 0 | None | 0 | 0 | 0 |
| N/I | rs557630306 |
0.382 | None | N | None | 0.184 | 0.292787519742 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 7.70713E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/I | rs557630306 |
0.382 | None | N | None | 0.184 | 0.292787519742 | 1000 genomes | 1.99681E-04 | None | None | None | None | I | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| N/I | rs557630306 |
0.382 | None | N | None | 0.184 | 0.292787519742 | gnomAD-4.0.0 | 5.57726E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.00562E-04 | None | 0 | 0 | 0 | 0 | 0 |
| N/S | rs557630306 |
0.395 | None | N | None | 0.106 | 0.0986583533028 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| N/S | rs557630306 |
0.395 | None | N | None | 0.106 | 0.0986583533028 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 3.16456E-03 | 0 | 0 | 0 |
| N/S | rs557630306 |
0.395 | None | N | None | 0.106 | 0.0986583533028 | gnomAD-4.0.0 | 1.23939E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.22846E-05 | None | 0 | 1.65071E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.4348 | ambiguous | 0.4081 | ambiguous | -0.038 | Destabilizing | None | None | None | None | None | None | None | None | I |
| N/C | 0.5393 | ambiguous | 0.4946 | ambiguous | 0.246 | Stabilizing | None | None | None | None | None | None | None | None | I |
| N/D | 0.2773 | likely_benign | 0.247 | benign | 0.138 | Stabilizing | None | None | None | None | N | 0.408993317 | None | None | I |
| N/E | 0.6339 | likely_pathogenic | 0.5612 | ambiguous | 0.078 | Stabilizing | None | None | None | None | None | None | None | None | I |
| N/F | 0.8537 | likely_pathogenic | 0.7902 | pathogenic | -0.611 | Destabilizing | None | None | None | None | None | None | None | None | I |
| N/G | 0.3653 | ambiguous | 0.3775 | ambiguous | -0.137 | Destabilizing | None | None | None | None | None | None | None | None | I |
| N/H | 0.2044 | likely_benign | 0.1882 | benign | -0.191 | Destabilizing | None | None | None | None | N | 0.428099153 | None | None | I |
| N/I | 0.6537 | likely_pathogenic | 0.5771 | pathogenic | 0.125 | Stabilizing | None | None | None | None | N | 0.427059003 | None | None | I |
| N/K | 0.6337 | likely_pathogenic | 0.5402 | ambiguous | 0.12 | Stabilizing | None | None | None | None | N | 0.427579078 | None | None | I |
| N/L | 0.5038 | ambiguous | 0.4188 | ambiguous | 0.125 | Stabilizing | None | None | None | None | None | None | None | None | I |
| N/M | 0.6715 | likely_pathogenic | 0.6343 | pathogenic | 0.15 | Stabilizing | None | None | None | None | None | None | None | None | I |
| N/P | 0.5914 | likely_pathogenic | 0.5551 | ambiguous | 0.094 | Stabilizing | None | None | None | None | None | None | None | None | I |
| N/Q | 0.5217 | ambiguous | 0.4801 | ambiguous | -0.113 | Destabilizing | None | None | None | None | None | None | None | None | I |
| N/R | 0.6461 | likely_pathogenic | 0.5096 | ambiguous | 0.16 | Stabilizing | None | None | None | None | None | None | None | None | I |
| N/S | 0.1172 | likely_benign | 0.1243 | benign | 0.087 | Stabilizing | None | None | None | None | N | 0.426538928 | None | None | I |
| N/T | 0.2709 | likely_benign | 0.2516 | benign | 0.133 | Stabilizing | None | None | None | None | N | 0.427059003 | None | None | I |
| N/V | 0.5924 | likely_pathogenic | 0.5445 | ambiguous | 0.094 | Stabilizing | None | None | None | None | None | None | None | None | I |
| N/W | 0.9271 | likely_pathogenic | 0.8985 | pathogenic | -0.751 | Destabilizing | None | None | None | None | None | None | None | None | I |
| N/Y | 0.4469 | ambiguous | 0.3442 | ambiguous | -0.425 | Destabilizing | None | None | None | None | N | 0.427752436 | None | None | I |
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.