Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33851 | 101776;101777;101778 | chr2:178535064;178535063;178535062 | chr2:179399791;179399790;179399789 |
| N2AB | 32210 | 96853;96854;96855 | chr2:178535064;178535063;178535062 | chr2:179399791;179399790;179399789 |
| N2A | 31283 | 94072;94073;94074 | chr2:178535064;178535063;178535062 | chr2:179399791;179399790;179399789 |
| N2B | 24786 | 74581;74582;74583 | chr2:178535064;178535063;178535062 | chr2:179399791;179399790;179399789 |
| Novex-1 | 24911 | 74956;74957;74958 | chr2:178535064;178535063;178535062 | chr2:179399791;179399790;179399789 |
| Novex-2 | 24978 | 75157;75158;75159 | chr2:178535064;178535063;178535062 | chr2:179399791;179399790;179399789 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: K
- RefSeq wild type transcript codon: AAA
- RefSeq wild type template codon: TTT
- Domain: Kinase-1
- Domain position: 39
- Q(SASA): 0.3049
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | None | None | None | N | None | 0.328 | 0.279370189704 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| K/Q | rs1394900631  |
-0.108 | None | N | None | 0.49 | 0.349870743963 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| K/Q | rs1394900631 |
-0.108 | None | N | None | 0.49 | 0.349870743963 | gnomAD-4.0.0 | 3.18224E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71559E-06 | 0 | 0 |
| K/T | rs770508302 |
-0.602 | None | N | None | 0.615 | 0.60282686728 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| K/T | rs770508302 |
-0.602 | None | N | None | 0.615 | 0.60282686728 | gnomAD-4.0.0 | 1.59113E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77269E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8978 | likely_pathogenic | 0.8169 | pathogenic | -0.044 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/C | 0.9583 | likely_pathogenic | 0.9385 | pathogenic | -0.383 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/D | 0.9705 | likely_pathogenic | 0.9269 | pathogenic | 0.191 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/E | 0.873 | likely_pathogenic | 0.6921 | pathogenic | 0.229 | Stabilizing | None | None | None | None | N | 0.484804237 | None | None | N |
| K/F | 0.9864 | likely_pathogenic | 0.9758 | pathogenic | -0.063 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/G | 0.9501 | likely_pathogenic | 0.8961 | pathogenic | -0.293 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/H | 0.7838 | likely_pathogenic | 0.6722 | pathogenic | -0.487 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/I | 0.9148 | likely_pathogenic | 0.8416 | pathogenic | 0.545 | Stabilizing | None | None | None | None | N | 0.484286949 | None | None | N |
| K/L | 0.8579 | likely_pathogenic | 0.7757 | pathogenic | 0.545 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/M | 0.8151 | likely_pathogenic | 0.677 | pathogenic | 0.224 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/N | 0.9388 | likely_pathogenic | 0.852 | pathogenic | 0.039 | Stabilizing | None | None | None | None | N | 0.469797499 | None | None | N |
| K/P | 0.9405 | likely_pathogenic | 0.9096 | pathogenic | 0.379 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/Q | 0.653 | likely_pathogenic | 0.4648 | ambiguous | -0.098 | Destabilizing | None | None | None | None | N | 0.458100426 | None | None | N |
| K/R | 0.174 | likely_benign | 0.1359 | benign | -0.116 | Destabilizing | None | None | None | None | N | 0.461255374 | None | None | N |
| K/S | 0.9452 | likely_pathogenic | 0.8711 | pathogenic | -0.516 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/T | 0.7955 | likely_pathogenic | 0.6307 | pathogenic | -0.311 | Destabilizing | None | None | None | None | N | 0.496253382 | None | None | N |
| K/V | 0.8714 | likely_pathogenic | 0.7861 | pathogenic | 0.379 | Stabilizing | None | None | None | None | None | None | None | None | N |
| K/W | 0.9818 | likely_pathogenic | 0.9674 | pathogenic | -0.025 | Destabilizing | None | None | None | None | None | None | None | None | N |
| K/Y | 0.9635 | likely_pathogenic | 0.9328 | pathogenic | 0.306 | 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.