Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33828 | 101707;101708;101709 | chr2:178535133;178535132;178535131 | chr2:179399860;179399859;179399858 |
| N2AB | 32187 | 96784;96785;96786 | chr2:178535133;178535132;178535131 | chr2:179399860;179399859;179399858 |
| N2A | 31260 | 94003;94004;94005 | chr2:178535133;178535132;178535131 | chr2:179399860;179399859;179399858 |
| N2B | 24763 | 74512;74513;74514 | chr2:178535133;178535132;178535131 | chr2:179399860;179399859;179399858 |
| Novex-1 | 24888 | 74887;74888;74889 | chr2:178535133;178535132;178535131 | chr2:179399860;179399859;179399858 |
| Novex-2 | 24955 | 75088;75089;75090 | chr2:178535133;178535132;178535131 | chr2:179399860;179399859;179399858 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: G
- RefSeq wild type transcript codon: GGT
- RefSeq wild type template codon: CCA
- Domain: Kinase-1
- Domain position: 16
- Q(SASA): 0.1672
- Site annotation: ATP binding
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs1690860089  |
None | None | D | None | 0.85 | 0.797841598697 | gnomAD-3.1.2 | 6.57E-06 | None | None | ATP binding | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1690860089 |
None | None | D | None | 0.85 | 0.797841598697 | gnomAD-4.0.0 | 1.23938E-06 | None | None | ATP binding | None | N | None | 2.67001E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | None | None | None | D | None | 0.807 | 0.892785440357 | gnomAD-4.0.0 | 1.36842E-06 | None | None | ATP binding | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79884E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6576 | likely_pathogenic | 0.5964 | pathogenic | -0.626 | Destabilizing | None | None | None | None | D | 0.663334936 | ATP binding | None | N |
| G/C | 0.7531 | likely_pathogenic | 0.7138 | pathogenic | -0.937 | Destabilizing | None | None | None | None | D | 0.695807627 | ATP binding | None | N |
| G/D | 0.8684 | likely_pathogenic | 0.8494 | pathogenic | -0.559 | Destabilizing | None | None | None | None | D | 0.695605823 | ATP binding | None | N |
| G/E | 0.9087 | likely_pathogenic | 0.8814 | pathogenic | -0.682 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/F | 0.9796 | likely_pathogenic | 0.9731 | pathogenic | -1.172 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/H | 0.9599 | likely_pathogenic | 0.955 | pathogenic | -0.923 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/I | 0.9679 | likely_pathogenic | 0.9497 | pathogenic | -0.543 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/K | 0.9653 | likely_pathogenic | 0.9554 | pathogenic | -0.936 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/L | 0.9626 | likely_pathogenic | 0.9454 | pathogenic | -0.543 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/M | 0.9642 | likely_pathogenic | 0.9502 | pathogenic | -0.489 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/N | 0.864 | likely_pathogenic | 0.8634 | pathogenic | -0.569 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/P | 0.9938 | likely_pathogenic | 0.9923 | pathogenic | -0.534 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/Q | 0.9321 | likely_pathogenic | 0.9203 | pathogenic | -0.824 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/R | 0.9305 | likely_pathogenic | 0.9137 | pathogenic | -0.53 | Destabilizing | None | None | None | None | D | 0.695807627 | ATP binding | None | N |
| G/S | 0.4861 | ambiguous | 0.4458 | ambiguous | -0.831 | Destabilizing | None | None | None | None | D | 0.695605823 | ATP binding | None | N |
| G/T | 0.8111 | likely_pathogenic | 0.7647 | pathogenic | -0.872 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/V | 0.9241 | likely_pathogenic | 0.8832 | pathogenic | -0.534 | Destabilizing | None | None | None | None | D | 0.695807627 | ATP binding | None | N |
| G/W | 0.955 | likely_pathogenic | 0.942 | pathogenic | -1.346 | Destabilizing | None | None | None | None | None | None | ATP binding | None | N |
| G/Y | 0.9579 | likely_pathogenic | 0.9511 | pathogenic | -0.99 | Destabilizing | None | None | None | None | None | None | ATP binding | 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.