Pkp1 - SNV Details



 Human Rare Diseases 
Epidermolysis bullosa simplex due to plakophilin deficiency

 Gene Information 
Gene Name Pkp1
Old Gene Names for Pkp1 Ai528551
Gene Description plakophilin 1 [Source:MGI Symbol;Acc:MGI:1328359]
Uniprot Name
CCDS Name
Gene GO
lamin binding; cell adhesion; intermediate filament bundle assembly; protein binding; binding; nucleus; desmosome
Homolog in other species PKP1
Omim http://omim.org/entry/601975
Immgen Expression
MEDIAN(HIGHER IN DC.LC.SK)
Gnf Expression
LOW(HIGH IN RETINA, UMBLICALCORD. EPIDERMIS TISSUES, TRACHEA)
Novel Yes

 Mutation Information 
Mutation Type Non-synonymous
Ensembl ID ENSMUSG00000026413
Chromosome 1
Coordinate 135,883,914     (Assembly: GRCm38)    
Ref Base A
Codon Change aaT/aaA
Var Base T
Zygosity Heterozygous
Read Depth 39
Allele Frequency
A:R0.49
T:V0.51
Amino Acid Position 406
Amino Acid Change N->K (Asparagine -> Lysine)
Sample ID IGL02113
Median Base Quality 37
Backgrounds C57BL/6NCrl
Source Australian Phenomics Facility (APF-G1)
Other variants in this mouse 48 Other Mutations

 Predictions 
Polyphen Score 0.99
Polyphen Prediction Probably damaging
Sift Score 0.04
Sift Prediction deleterious

 Availability Details 
Availability Cryopreserved , Progeny Cryopreserved