Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34039 | 102340;102341;102342 | chr2:178534500;178534499;178534498 | chr2:179399227;179399226;179399225 |
| N2AB | 32398 | 97417;97418;97419 | chr2:178534500;178534499;178534498 | chr2:179399227;179399226;179399225 |
| N2A | 31471 | 94636;94637;94638 | chr2:178534500;178534499;178534498 | chr2:179399227;179399226;179399225 |
| N2B | 24974 | 75145;75146;75147 | chr2:178534500;178534499;178534498 | chr2:179399227;179399226;179399225 |
| Novex-1 | 25099 | 75520;75521;75522 | chr2:178534500;178534499;178534498 | chr2:179399227;179399226;179399225 |
| Novex-2 | 25166 | 75721;75722;75723 | chr2:178534500;178534499;178534498 | chr2:179399227;179399226;179399225 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTC
- RefSeq wild type template codon: AAG
- Domain: Kinase-1
- Domain position: 227
- Q(SASA): 0.0775
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/L | rs1178807411  |
-0.811 | None | N | None | 0.41 | 0.346992582518 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| F/L | rs1178807411 |
-0.811 | None | N | None | 0.41 | 0.346992582518 | gnomAD-4.0.0 | 1.59145E-06 | None | None | None | None | N | None | 0 | 2.28655E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| F/S | rs1553496582 |
None | None | N | None | 0.47 | 0.358340041657 | 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 |
| F/S | rs1553496582 |
None | None | N | None | 0.47 | 0.358340041657 | gnomAD-4.0.0 | 1.36337E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.69519E-05 | 0 | 3.20215E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.9663 | likely_pathogenic | 0.967 | pathogenic | -2.333 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.9381 | likely_pathogenic | 0.9395 | pathogenic | -1.6 | Destabilizing | None | None | None | None | N | 0.482125639 | None | None | N |
| F/D | 0.9935 | likely_pathogenic | 0.9934 | pathogenic | -2.571 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9897 | likely_pathogenic | 0.991 | pathogenic | -2.35 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9861 | likely_pathogenic | 0.9866 | pathogenic | -2.798 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.9748 | likely_pathogenic | 0.9741 | pathogenic | -1.525 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.8898 | likely_pathogenic | 0.8925 | pathogenic | -0.835 | Destabilizing | None | None | None | None | N | 0.464923958 | None | None | N |
| F/K | 0.9892 | likely_pathogenic | 0.9889 | pathogenic | -1.723 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9763 | likely_pathogenic | 0.9787 | pathogenic | -0.835 | Destabilizing | None | None | None | None | N | 0.435870487 | None | None | N |
| F/M | 0.9049 | likely_pathogenic | 0.9153 | pathogenic | -0.692 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9832 | likely_pathogenic | 0.9839 | pathogenic | -2.216 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.344 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.983 | likely_pathogenic | 0.9844 | pathogenic | -2.082 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9732 | likely_pathogenic | 0.9731 | pathogenic | -1.449 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9721 | likely_pathogenic | 0.9696 | pathogenic | -2.892 | Highly Destabilizing | None | None | None | None | N | 0.470484493 | None | None | N |
| F/T | 0.9734 | likely_pathogenic | 0.9746 | pathogenic | -2.548 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.8558 | likely_pathogenic | 0.8619 | pathogenic | -1.344 | Destabilizing | None | None | None | None | N | 0.462499728 | None | None | N |
| F/W | 0.8644 | likely_pathogenic | 0.8609 | pathogenic | -0.096 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.5978 | likely_pathogenic | 0.5819 | pathogenic | -0.42 | Destabilizing | None | None | None | None | N | 0.412649698 | 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.