Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33823 | 101692;101693;101694 | chr2:178535148;178535147;178535146 | chr2:179399875;179399874;179399873 |
| N2AB | 32182 | 96769;96770;96771 | chr2:178535148;178535147;178535146 | chr2:179399875;179399874;179399873 |
| N2A | 31255 | 93988;93989;93990 | chr2:178535148;178535147;178535146 | chr2:179399875;179399874;179399873 |
| N2B | 24758 | 74497;74498;74499 | chr2:178535148;178535147;178535146 | chr2:179399875;179399874;179399873 |
| Novex-1 | 24883 | 74872;74873;74874 | chr2:178535148;178535147;178535146 | chr2:179399875;179399874;179399873 |
| Novex-2 | 24950 | 75073;75074;75075 | chr2:178535148;178535147;178535146 | chr2:179399875;179399874;179399873 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: E
- RefSeq wild type transcript codon: GAA
- RefSeq wild type template codon: CTT
- Domain: Kinase-1
- Domain position: 11
- Q(SASA): 0.2328
- Predicted PPI site: I
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs778556139  |
-0.111 | None | N | None | 0.45 | 0.243972157842 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.57E-05 | None | 0 | None | 0 | 0 | 0 |
| E/K | rs778556139 |
-0.111 | None | N | None | 0.45 | 0.243972157842 | gnomAD-4.0.0 | 3.18241E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.54477E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7436 | likely_pathogenic | 0.7874 | pathogenic | -0.754 | Destabilizing | None | None | None | None | N | 0.459808926 | None | None | I |
| E/C | 0.9857 | likely_pathogenic | 0.9894 | pathogenic | -0.358 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/D | 0.7478 | likely_pathogenic | 0.8154 | pathogenic | -0.839 | Destabilizing | None | None | None | None | N | 0.42005846 | None | None | I |
| E/F | 0.993 | likely_pathogenic | 0.9943 | pathogenic | -0.353 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/G | 0.7067 | likely_pathogenic | 0.7576 | pathogenic | -1.053 | Destabilizing | None | None | None | None | N | 0.464945387 | None | None | I |
| E/H | 0.9641 | likely_pathogenic | 0.9715 | pathogenic | -0.396 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/I | 0.9676 | likely_pathogenic | 0.9738 | pathogenic | 0.042 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/K | 0.7393 | likely_pathogenic | 0.763 | pathogenic | -0.371 | Destabilizing | None | None | None | None | N | 0.397141528 | None | None | I |
| E/L | 0.9655 | likely_pathogenic | 0.9752 | pathogenic | 0.042 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/M | 0.961 | likely_pathogenic | 0.9685 | pathogenic | 0.336 | Stabilizing | None | None | None | None | None | None | None | None | I |
| E/N | 0.92 | likely_pathogenic | 0.944 | pathogenic | -0.771 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/P | 0.9792 | likely_pathogenic | 0.9909 | pathogenic | -0.203 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Q | 0.6449 | likely_pathogenic | 0.6686 | pathogenic | -0.679 | Destabilizing | None | None | None | None | N | 0.439876371 | None | None | I |
| E/R | 0.8341 | likely_pathogenic | 0.8465 | pathogenic | -0.042 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/S | 0.8136 | likely_pathogenic | 0.8508 | pathogenic | -1.002 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/T | 0.864 | likely_pathogenic | 0.8933 | pathogenic | -0.762 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/V | 0.898 | likely_pathogenic | 0.9145 | pathogenic | -0.203 | Destabilizing | None | None | None | None | N | 0.459672268 | None | None | I |
| E/W | 0.997 | likely_pathogenic | 0.9974 | pathogenic | -0.121 | Destabilizing | None | None | None | None | None | None | None | None | I |
| E/Y | 0.9876 | likely_pathogenic | 0.9896 | pathogenic | -0.114 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.