Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33928 | 102007;102008;102009 | chr2:178534833;178534832;178534831 | chr2:179399560;179399559;179399558 |
| N2AB | 32287 | 97084;97085;97086 | chr2:178534833;178534832;178534831 | chr2:179399560;179399559;179399558 |
| N2A | 31360 | 94303;94304;94305 | chr2:178534833;178534832;178534831 | chr2:179399560;179399559;179399558 |
| N2B | 24863 | 74812;74813;74814 | chr2:178534833;178534832;178534831 | chr2:179399560;179399559;179399558 |
| Novex-1 | 24988 | 75187;75188;75189 | chr2:178534833;178534832;178534831 | chr2:179399560;179399559;179399558 |
| Novex-2 | 25055 | 75388;75389;75390 | chr2:178534833;178534832;178534831 | chr2:179399560;179399559;179399558 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: Q
- RefSeq wild type transcript codon: CAG
- RefSeq wild type template codon: GTC
- Domain: Kinase-1
- Domain position: 116
- Q(SASA): 0.209
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/R | rs772264395  |
-0.154 | None | N | None | 0.157 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs772264395 |
-0.154 | None | N | None | 0.157 | None | gnomAD-4.0.0 | 1.41607E-05 | None | None | None | None | N | None | 1.69096E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.15358E-05 | 0 | 2.84576E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.267 | likely_benign | 0.2085 | benign | -0.165 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/C | 0.8173 | likely_pathogenic | 0.7463 | pathogenic | 0.067 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/D | 0.5128 | ambiguous | 0.4051 | ambiguous | -1.703 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/E | 0.096 | likely_benign | 0.0726 | benign | -1.569 | Destabilizing | None | None | None | None | N | 0.415170794 | None | None | N |
| Q/F | 0.8196 | likely_pathogenic | 0.7518 | pathogenic | -0.124 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/G | 0.3752 | ambiguous | 0.2813 | benign | -0.538 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/H | 0.3777 | ambiguous | 0.2934 | benign | -0.878 | Destabilizing | None | None | None | None | N | 0.497848105 | None | None | N |
| Q/I | 0.6127 | likely_pathogenic | 0.5206 | ambiguous | 0.787 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/K | 0.1941 | likely_benign | 0.1488 | benign | -0.318 | Destabilizing | None | None | None | None | N | 0.46723441 | None | None | N |
| Q/L | 0.2893 | likely_benign | 0.2135 | benign | 0.787 | Stabilizing | None | None | None | None | N | 0.510334613 | None | None | N |
| Q/M | 0.5587 | ambiguous | 0.478 | ambiguous | 1.271 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/N | 0.3631 | ambiguous | 0.2995 | benign | -1.098 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/P | 0.9099 | likely_pathogenic | 0.8311 | pathogenic | 0.502 | Stabilizing | None | None | None | None | N | 0.510949835 | None | None | N |
| Q/R | 0.1929 | likely_benign | 0.1525 | benign | -0.457 | Destabilizing | None | None | None | None | N | 0.486745677 | None | None | N |
| Q/S | 0.2521 | likely_benign | 0.2122 | benign | -1.0 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/T | 0.3053 | likely_benign | 0.258 | benign | -0.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/V | 0.4399 | ambiguous | 0.3655 | ambiguous | 0.502 | Stabilizing | None | None | None | None | None | None | None | None | N |
| Q/W | 0.8385 | likely_pathogenic | 0.7681 | pathogenic | -0.316 | Destabilizing | None | None | None | None | None | None | None | None | N |
| Q/Y | 0.6249 | likely_pathogenic | 0.5282 | ambiguous | 0.122 | 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.