Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33899 | 101920;101921;101922 | chr2:178534920;178534919;178534918 | chr2:179399647;179399646;179399645 |
| N2AB | 32258 | 96997;96998;96999 | chr2:178534920;178534919;178534918 | chr2:179399647;179399646;179399645 |
| N2A | 31331 | 94216;94217;94218 | chr2:178534920;178534919;178534918 | chr2:179399647;179399646;179399645 |
| N2B | 24834 | 74725;74726;74727 | chr2:178534920;178534919;178534918 | chr2:179399647;179399646;179399645 |
| Novex-1 | 24959 | 75100;75101;75102 | chr2:178534920;178534919;178534918 | chr2:179399647;179399646;179399645 |
| Novex-2 | 25026 | 75301;75302;75303 | chr2:178534920;178534919;178534918 | chr2:179399647;179399646;179399645 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: D
- RefSeq wild type transcript codon: GAC
- RefSeq wild type template codon: CTG
- Domain: Kinase-1
- Domain position: 87
- Q(SASA): 0.0688
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | rs794729560  |
-1.205 | None | N | None | 0.565 | 0.333154297509 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| D/G | rs794729560 |
-1.205 | None | N | None | 0.565 | 0.333154297509 | gnomAD-4.0.0 | 3.1973E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9429 | likely_pathogenic | 0.8858 | pathogenic | -0.587 | Destabilizing | None | None | None | None | N | 0.471068253 | None | None | N |
| D/C | 0.9845 | likely_pathogenic | 0.9783 | pathogenic | 0.088 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/E | 0.8865 | likely_pathogenic | 0.8085 | pathogenic | -0.617 | Destabilizing | None | None | None | None | N | 0.408073384 | None | None | N |
| D/F | 0.9932 | likely_pathogenic | 0.984 | pathogenic | -0.436 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/G | 0.919 | likely_pathogenic | 0.8448 | pathogenic | -1.012 | Destabilizing | None | None | None | None | N | 0.493691958 | None | None | N |
| D/H | 0.9459 | likely_pathogenic | 0.8857 | pathogenic | -0.401 | Destabilizing | None | None | None | None | N | 0.483349611 | None | None | N |
| D/I | 0.9923 | likely_pathogenic | 0.9819 | pathogenic | 0.591 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/K | 0.9894 | likely_pathogenic | 0.9714 | pathogenic | -0.462 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/L | 0.9803 | likely_pathogenic | 0.9593 | pathogenic | 0.591 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/M | 0.9966 | likely_pathogenic | 0.9922 | pathogenic | 1.203 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/N | 0.7141 | likely_pathogenic | 0.6453 | pathogenic | -0.862 | Destabilizing | None | None | None | None | N | 0.511507183 | None | None | N |
| D/P | 0.9887 | likely_pathogenic | 0.9765 | pathogenic | 0.22 | Stabilizing | None | None | None | None | None | None | None | None | N |
| D/Q | 0.9815 | likely_pathogenic | 0.952 | pathogenic | -0.465 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/R | 0.9867 | likely_pathogenic | 0.961 | pathogenic | -0.602 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/S | 0.8546 | likely_pathogenic | 0.7662 | pathogenic | -1.416 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/T | 0.9722 | likely_pathogenic | 0.9446 | pathogenic | -0.993 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/V | 0.9687 | likely_pathogenic | 0.9323 | pathogenic | 0.22 | Stabilizing | None | None | None | None | N | 0.48385659 | None | None | N |
| D/W | 0.9981 | likely_pathogenic | 0.9946 | pathogenic | -0.661 | Destabilizing | None | None | None | None | None | None | None | None | N |
| D/Y | 0.9401 | likely_pathogenic | 0.8794 | pathogenic | -0.238 | Destabilizing | None | None | None | None | N | 0.483603101 | 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.