Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33939 | 102040;102041;102042 | chr2:178534800;178534799;178534798 | chr2:179399527;179399526;179399525 |
| N2AB | 32298 | 97117;97118;97119 | chr2:178534800;178534799;178534798 | chr2:179399527;179399526;179399525 |
| N2A | 31371 | 94336;94337;94338 | chr2:178534800;178534799;178534798 | chr2:179399527;179399526;179399525 |
| N2B | 24874 | 74845;74846;74847 | chr2:178534800;178534799;178534798 | chr2:179399527;179399526;179399525 |
| Novex-1 | 24999 | 75220;75221;75222 | chr2:178534800;178534799;178534798 | chr2:179399527;179399526;179399525 |
| Novex-2 | 25066 | 75421;75422;75423 | chr2:178534800;178534799;178534798 | chr2:179399527;179399526;179399525 |
| 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: 127
- Q(SASA): 0.1006
- Site annotation: Proton acceptor
- 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/E | None | None | None | D | None | 0.834 | 0.700407392807 | gnomAD-4.0.0 | 1.59602E-06 | None | None | Proton acceptor | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| D/Y | None | None | None | D | None | 0.824 | 0.933122612985 | gnomAD-4.0.0 | 1.59637E-06 | None | None | Proton acceptor | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43353E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8723 | likely_pathogenic | 0.8205 | pathogenic | -0.692 | Destabilizing | None | None | None | None | D | 0.668640823 | Proton acceptor | None | N |
| D/C | 0.9739 | likely_pathogenic | 0.9612 | pathogenic | -0.684 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/E | 0.7987 | likely_pathogenic | 0.7593 | pathogenic | -0.913 | Destabilizing | None | None | None | None | D | 0.635966328 | Proton acceptor | None | N |
| D/F | 0.9795 | likely_pathogenic | 0.9686 | pathogenic | -0.818 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/G | 0.897 | likely_pathogenic | 0.8428 | pathogenic | -1.051 | Destabilizing | None | None | None | None | D | 0.636602102 | Proton acceptor | None | N |
| D/H | 0.9126 | likely_pathogenic | 0.8586 | pathogenic | -1.177 | Destabilizing | None | None | None | None | D | 0.668842628 | Proton acceptor | None | N |
| D/I | 0.9695 | likely_pathogenic | 0.9576 | pathogenic | 0.271 | Stabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/K | 0.9705 | likely_pathogenic | 0.9563 | pathogenic | -1.264 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/L | 0.9532 | likely_pathogenic | 0.9292 | pathogenic | 0.271 | Stabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/M | 0.991 | likely_pathogenic | 0.9861 | pathogenic | 0.82 | Stabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/N | 0.663 | likely_pathogenic | 0.5928 | pathogenic | -1.465 | Destabilizing | None | None | None | None | D | 0.614808985 | Proton acceptor | None | N |
| D/P | 0.9873 | likely_pathogenic | 0.9825 | pathogenic | -0.026 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/Q | 0.9499 | likely_pathogenic | 0.9193 | pathogenic | -1.191 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/R | 0.9566 | likely_pathogenic | 0.9311 | pathogenic | -1.281 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/S | 0.7295 | likely_pathogenic | 0.6475 | pathogenic | -1.947 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/T | 0.9341 | likely_pathogenic | 0.9113 | pathogenic | -1.627 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/V | 0.9177 | likely_pathogenic | 0.8888 | pathogenic | -0.026 | Destabilizing | None | None | None | None | D | 0.668842628 | Proton acceptor | None | N |
| D/W | 0.996 | likely_pathogenic | 0.9919 | pathogenic | -1.063 | Destabilizing | None | None | None | None | None | None | Proton acceptor | None | N |
| D/Y | 0.8885 | likely_pathogenic | 0.8241 | pathogenic | -0.728 | Destabilizing | None | None | None | None | D | 0.668842628 | Proton acceptor | 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.