Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33849 | 101770;101771;101772 | chr2:178535070;178535069;178535068 | chr2:179399797;179399796;179399795 |
| N2AB | 32208 | 96847;96848;96849 | chr2:178535070;178535069;178535068 | chr2:179399797;179399796;179399795 |
| N2A | 31281 | 94066;94067;94068 | chr2:178535070;178535069;178535068 | chr2:179399797;179399796;179399795 |
| N2B | 24784 | 74575;74576;74577 | chr2:178535070;178535069;178535068 | chr2:179399797;179399796;179399795 |
| Novex-1 | 24909 | 74950;74951;74952 | chr2:178535070;178535069;178535068 | chr2:179399797;179399796;179399795 |
| Novex-2 | 24976 | 75151;75152;75153 | chr2:178535070;178535069;178535068 | chr2:179399797;179399796;179399795 |
| 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: 37
- Q(SASA): 0.1847
- 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/C | None | None | None | N | None | 0.518 | 0.670318094274 | gnomAD-4.0.0 | 2.73673E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69825E-06 | 1.15934E-05 | 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 | 0.9831 | likely_pathogenic | 0.9766 | pathogenic | -3.049 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/C | 0.9603 | likely_pathogenic | 0.9521 | pathogenic | -1.999 | Destabilizing | None | None | None | None | N | 0.445684836 | None | None | N |
| F/D | 0.9968 | likely_pathogenic | 0.9959 | pathogenic | -3.082 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/E | 0.9958 | likely_pathogenic | 0.9949 | pathogenic | -2.91 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/G | 0.9944 | likely_pathogenic | 0.9928 | pathogenic | -3.476 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/H | 0.981 | likely_pathogenic | 0.9763 | pathogenic | -1.816 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/I | 0.8665 | likely_pathogenic | 0.81 | pathogenic | -1.67 | Destabilizing | None | None | None | None | N | 0.342344251 | None | None | N |
| F/K | 0.995 | likely_pathogenic | 0.9931 | pathogenic | -2.329 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/L | 0.9879 | likely_pathogenic | 0.982 | pathogenic | -1.67 | Destabilizing | None | None | None | None | N | 0.429232516 | None | None | N |
| F/M | 0.9278 | likely_pathogenic | 0.8999 | pathogenic | -1.275 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/N | 0.9895 | likely_pathogenic | 0.9866 | pathogenic | -2.666 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/P | 0.9998 | likely_pathogenic | 0.9997 | pathogenic | -2.139 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Q | 0.994 | likely_pathogenic | 0.9925 | pathogenic | -2.69 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/R | 0.9883 | likely_pathogenic | 0.9847 | pathogenic | -1.641 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/S | 0.9879 | likely_pathogenic | 0.9601 | pathogenic | -3.367 | Highly Destabilizing | None | None | None | None | N | 0.436641278 | None | None | N |
| F/T | 0.9818 | likely_pathogenic | 0.9733 | pathogenic | -3.089 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| F/V | 0.8722 | likely_pathogenic | 0.8201 | pathogenic | -2.139 | Highly Destabilizing | None | None | None | None | N | 0.396061305 | None | None | N |
| F/W | 0.9143 | likely_pathogenic | 0.8868 | pathogenic | -0.699 | Destabilizing | None | None | None | None | None | None | None | None | N |
| F/Y | 0.5893 | likely_pathogenic | 0.5426 | ambiguous | -1.082 | Destabilizing | None | None | None | None | N | 0.448397067 | 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.