Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34118 | 102577;102578;102579 | chr2:178534263;178534262;178534261 | chr2:179398990;179398989;179398988 |
| N2AB | 32477 | 97654;97655;97656 | chr2:178534263;178534262;178534261 | chr2:179398990;179398989;179398988 |
| N2A | 31550 | 94873;94874;94875 | chr2:178534263;178534262;178534261 | chr2:179398990;179398989;179398988 |
| N2B | 25053 | 75382;75383;75384 | chr2:178534263;178534262;178534261 | chr2:179398990;179398989;179398988 |
| Novex-1 | 25178 | 75757;75758;75759 | chr2:178534263;178534262;178534261 | chr2:179398990;179398989;179398988 |
| Novex-2 | 25245 | 75958;75959;75960 | chr2:178534263;178534262;178534261 | chr2:179398990;179398989;179398988 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
- RefSeq wild type amino acid: R
- RefSeq wild type transcript codon: CGA
- RefSeq wild type template codon: GCT
- Domain: Kinase-1
- Domain position: 306
- Q(SASA): 0.1242
- 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs551905996  |
-0.431 | None | N | None | 0.189 | None | gnomAD-2.1.1 | 4.64E-05 | None | None | None | None | N | None | 2.47934E-04 | 2.83E-05 | None | 0 | 5.12E-05 | None | 0 | None | 8E-05 | 1.56E-05 | 1.4041E-04 |
| R/Q | rs551905996 |
-0.431 | None | N | None | 0.189 | None | gnomAD-3.1.2 | 9.86E-05 | None | None | None | None | N | None | 2.41301E-04 | 0 | 0 | 0 | 1.92382E-04 | None | 9.42E-05 | 0 | 2.94E-05 | 2.06782E-04 | 0 |
| R/Q | rs551905996 |
-0.431 | None | N | None | 0.189 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| R/Q | rs551905996 |
-0.431 | None | N | None | 0.189 | None | gnomAD-4.0.0 | 3.77956E-05 | None | None | None | None | N | None | 2.26558E-04 | 1.66611E-05 | None | 0 | 1.78237E-04 | None | 3.12461E-05 | 0 | 2.5427E-05 | 1.09789E-05 | 3.20082E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9404 | likely_pathogenic | 0.9091 | pathogenic | -1.195 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/C | 0.7102 | likely_pathogenic | 0.6836 | pathogenic | -1.172 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/D | 0.9817 | likely_pathogenic | 0.9708 | pathogenic | 0.117 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/E | 0.9287 | likely_pathogenic | 0.8851 | pathogenic | 0.26 | Stabilizing | None | None | None | None | None | None | None | None | N |
| R/F | 0.954 | likely_pathogenic | 0.9403 | pathogenic | -1.027 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/G | 0.8759 | likely_pathogenic | 0.8251 | pathogenic | -1.492 | Destabilizing | None | None | None | None | N | 0.448208719 | None | None | N |
| R/H | 0.548 | ambiguous | 0.5513 | ambiguous | -1.651 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/I | 0.883 | likely_pathogenic | 0.8238 | pathogenic | -0.388 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/K | 0.4767 | ambiguous | 0.4873 | ambiguous | -0.827 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/L | 0.7986 | likely_pathogenic | 0.733 | pathogenic | -0.388 | Destabilizing | None | None | None | None | N | 0.447862002 | None | None | N |
| R/M | 0.9328 | likely_pathogenic | 0.9021 | pathogenic | -0.756 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/N | 0.9711 | likely_pathogenic | 0.9562 | pathogenic | -0.422 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/P | 0.9436 | likely_pathogenic | 0.9227 | pathogenic | -0.638 | Destabilizing | None | None | None | None | N | 0.448555436 | None | None | N |
| R/Q | 0.5187 | ambiguous | 0.504 | ambiguous | -0.575 | Destabilizing | None | None | None | None | N | 0.447515286 | None | None | N |
| R/S | 0.9582 | likely_pathogenic | 0.9376 | pathogenic | -1.382 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/T | 0.9212 | likely_pathogenic | 0.8746 | pathogenic | -1.044 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/V | 0.9086 | likely_pathogenic | 0.8812 | pathogenic | -0.638 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/W | 0.7474 | likely_pathogenic | 0.7079 | pathogenic | -0.618 | Destabilizing | None | None | None | None | None | None | None | None | N |
| R/Y | 0.9124 | likely_pathogenic | 0.8886 | pathogenic | -0.366 | Destabilizing | None | None | None | None | None | None | 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.