Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33998 | 102217;102218;102219 | chr2:178534623;178534622;178534621 | chr2:179399350;179399349;179399348 |
| N2AB | 32357 | 97294;97295;97296 | chr2:178534623;178534622;178534621 | chr2:179399350;179399349;179399348 |
| N2A | 31430 | 94513;94514;94515 | chr2:178534623;178534622;178534621 | chr2:179399350;179399349;179399348 |
| N2B | 24933 | 75022;75023;75024 | chr2:178534623;178534622;178534621 | chr2:179399350;179399349;179399348 |
| Novex-1 | 25058 | 75397;75398;75399 | chr2:178534623;178534622;178534621 | chr2:179399350;179399349;179399348 |
| Novex-2 | 25125 | 75598;75599;75600 | chr2:178534623;178534622;178534621 | chr2:179399350;179399349;179399348 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: M
- RefSeq wild type transcript codon: ATG
- RefSeq wild type template codon: TAC
- Domain: Kinase-1
- Domain position: 186
- Q(SASA): 0.0645
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/T | rs1559039438  |
None | None | D | None | 0.591 | 0.840098067475 | gnomAD-4.0.0 | 1.59151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8591E-06 | 0 | 0 |
| M/V | None | None | None | N | None | 0.435 | 0.583428817434 | gnomAD-4.0.0 | 1.59161E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85938E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.9031 | likely_pathogenic | 0.9058 | pathogenic | -2.386 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.9182 | likely_pathogenic | 0.9136 | pathogenic | -2.716 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.9904 | likely_pathogenic | 0.9909 | pathogenic | -2.315 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.9491 | likely_pathogenic | 0.9463 | pathogenic | -2.136 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.7526 | likely_pathogenic | 0.7633 | pathogenic | -1.016 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.965 | likely_pathogenic | 0.9649 | pathogenic | -2.821 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.9627 | likely_pathogenic | 0.963 | pathogenic | -2.271 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.8686 | likely_pathogenic | 0.8697 | pathogenic | -1.153 | Destabilizing | None | None | None | None | N | 0.388098836 | None | None | N |
| M/K | 0.906 | likely_pathogenic | 0.9082 | pathogenic | -1.568 | Destabilizing | None | None | None | None | N | 0.512608903 | None | None | N |
| M/L | 0.5166 | ambiguous | 0.5352 | ambiguous | -1.153 | Destabilizing | None | None | None | None | N | 0.46182859 | None | None | N |
| M/N | 0.9338 | likely_pathogenic | 0.938 | pathogenic | -1.852 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9851 | likely_pathogenic | 0.9872 | pathogenic | -1.545 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.8236 | likely_pathogenic | 0.7995 | pathogenic | -1.674 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.9074 | likely_pathogenic | 0.9125 | pathogenic | -1.475 | Destabilizing | None | None | None | None | N | 0.512608903 | None | None | N |
| M/S | 0.8726 | likely_pathogenic | 0.8767 | pathogenic | -2.442 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.8122 | likely_pathogenic | 0.817 | pathogenic | -2.141 | Highly Destabilizing | None | None | None | None | D | 0.53261404 | None | None | N |
| M/V | 0.4583 | ambiguous | 0.4927 | ambiguous | -1.545 | Destabilizing | None | None | None | None | N | 0.453782323 | None | None | N |
| M/W | 0.9789 | likely_pathogenic | 0.9801 | pathogenic | -1.263 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.9492 | likely_pathogenic | 0.9468 | pathogenic | -1.252 | 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.