Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33914 | 101965;101966;101967 | chr2:178534875;178534874;178534873 | chr2:179399602;179399601;179399600 |
| N2AB | 32273 | 97042;97043;97044 | chr2:178534875;178534874;178534873 | chr2:179399602;179399601;179399600 |
| N2A | 31346 | 94261;94262;94263 | chr2:178534875;178534874;178534873 | chr2:179399602;179399601;179399600 |
| N2B | 24849 | 74770;74771;74772 | chr2:178534875;178534874;178534873 | chr2:179399602;179399601;179399600 |
| Novex-1 | 24974 | 75145;75146;75147 | chr2:178534875;178534874;178534873 | chr2:179399602;179399601;179399600 |
| Novex-2 | 25041 | 75346;75347;75348 | chr2:178534875;178534874;178534873 | chr2:179399602;179399601;179399600 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: AGA
- RefSeq wild type template codon: TCT
- Domain: Kinase-1
- Domain position: 102
- Q(SASA): 0.2435
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | None | None | None | N | None | 0.298 | 0.366659145958 | gnomAD-4.0.0 | 1.60466E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85819E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4308 | ambiguous | 0.3195 | benign | -1.566 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.4085 | ambiguous | 0.2732 | benign | -1.825 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.6756 | likely_pathogenic | 0.5792 | pathogenic | -0.95 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.3691 | ambiguous | 0.2983 | benign | -0.835 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.789 | likely_pathogenic | 0.6698 | pathogenic | -1.613 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.3338 | likely_benign | 0.2196 | benign | -1.834 | Destabilizing | None | None | None | None | N | 0.465717044 | None | None | N |
| R/H | 0.1933 | likely_benign | 0.142 | benign | -1.768 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.4523 | ambiguous | 0.348 | ambiguous | -0.833 | Destabilizing | None | None | None | None | N | 0.474856603 | None | None | N |
| R/K | 0.1318 | likely_benign | 0.1069 | benign | -1.645 | Destabilizing | None | None | None | None | N | 0.43344991 | None | None | N |
| R/L | 0.4006 | ambiguous | 0.2967 | benign | -0.833 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/M | 0.3856 | ambiguous | 0.2889 | benign | -1.01 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.602 | likely_pathogenic | 0.4834 | ambiguous | -1.192 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.8402 | likely_pathogenic | 0.7195 | pathogenic | -1.061 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Q | 0.1361 | likely_benign | 0.1043 | benign | -1.446 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/S | 0.5446 | ambiguous | 0.4031 | ambiguous | -2.045 | Highly Destabilizing | None | None | None | None | N | 0.436740932 | None | None | N |
| R/T | 0.2986 | likely_benign | 0.2172 | benign | -1.763 | Destabilizing | None | None | None | None | N | 0.457654921 | None | None | N |
| R/V | 0.5476 | ambiguous | 0.4303 | ambiguous | -1.061 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.3552 | ambiguous | 0.2318 | benign | -1.207 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.5944 | likely_pathogenic | 0.4617 | ambiguous | -0.889 | 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.