Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33909 | 101950;101951;101952 | chr2:178534890;178534889;178534888 | chr2:179399617;179399616;179399615 |
| N2AB | 32268 | 97027;97028;97029 | chr2:178534890;178534889;178534888 | chr2:179399617;179399616;179399615 |
| N2A | 31341 | 94246;94247;94248 | chr2:178534890;178534889;178534888 | chr2:179399617;179399616;179399615 |
| N2B | 24844 | 74755;74756;74757 | chr2:178534890;178534889;178534888 | chr2:179399617;179399616;179399615 |
| Novex-1 | 24969 | 75130;75131;75132 | chr2:178534890;178534889;178534888 | chr2:179399617;179399616;179399615 |
| Novex-2 | 25036 | 75331;75332;75333 | chr2:178534890;178534889;178534888 | chr2:179399617;179399616;179399615 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: F
- RefSeq wild type transcript codon: TTT
- RefSeq wild type template codon: AAA
- Domain: Kinase-1
- Domain position: 97
- Q(SASA): 0.151
- 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/I | rs1015489403  |
None | None | N | None | 0.511 | 0.482646159919 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| F/I | rs1015489403 |
None | None | N | None | 0.511 | 0.482646159919 | gnomAD-4.0.0 | 6.56944E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.06782E-04 | 0 |
| F/V | rs1015489403 |
-1.737 | None | N | None | 0.496 | 0.611883390435 | gnomAD-2.1.1 | 8.16E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| F/V | rs1015489403 |
-1.737 | None | N | None | 0.496 | 0.611883390435 | 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/V | rs1015489403 |
-1.737 | None | N | None | 0.496 | 0.611883390435 | gnomAD-4.0.0 | 3.72865E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.08554E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| F/A | 0.907 | likely_pathogenic | 0.8957 | pathogenic | -2.459 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.8637 | likely_pathogenic | 0.8382 | pathogenic | -1.51 | Destabilizing | None | None | None | None | N | 0.483609372 | None | None | N |
| F/D | 0.974 | likely_pathogenic | 0.9738 | pathogenic | -1.196 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9714 | likely_pathogenic | 0.9692 | pathogenic | -1.084 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9508 | likely_pathogenic | 0.955 | pathogenic | -2.832 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.9246 | likely_pathogenic | 0.9182 | pathogenic | -1.065 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.7795 | likely_pathogenic | 0.6972 | pathogenic | -1.318 | Destabilizing | None | None | None | None | N | 0.495749163 | None | None | N |
| F/K | 0.9723 | likely_pathogenic | 0.9695 | pathogenic | -1.536 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9698 | likely_pathogenic | 0.966 | pathogenic | -1.318 | Destabilizing | None | None | None | None | N | 0.484532092 | None | None | N |
| F/M | 0.8677 | likely_pathogenic | 0.8438 | pathogenic | -1.061 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9398 | likely_pathogenic | 0.9393 | pathogenic | -1.615 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.991 | likely_pathogenic | 0.9922 | pathogenic | -1.695 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.9578 | likely_pathogenic | 0.9564 | pathogenic | -1.664 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9371 | likely_pathogenic | 0.9343 | pathogenic | -0.874 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.8819 | likely_pathogenic | 0.8674 | pathogenic | -2.473 | Highly Destabilizing | None | None | None | None | N | 0.478816841 | None | None | N |
| F/T | 0.8961 | likely_pathogenic | 0.8696 | pathogenic | -2.258 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.7275 | likely_pathogenic | 0.6502 | pathogenic | -1.695 | Destabilizing | None | None | None | None | N | 0.469543996 | None | None | N |
| F/W | 0.7776 | likely_pathogenic | 0.7588 | pathogenic | -0.418 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.4471 | ambiguous | 0.443 | ambiguous | -0.701 | Destabilizing | None | None | None | None | N | 0.459463076 | 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.