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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P14923: Variant p.Arg142His

Junction plakoglobin
Gene: JUP
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Variant information Variant position: help 142
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 142 (R142H, p.Arg142His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 142
Protein sequence length: help 745
Location on the sequence: help LLKSAIVHLINYQDDAELAT R ALPELTKLLNDEDPVVVTKA
Residue conservation: help 
Human                         LLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKA

Mouse                         LLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKA

Rat                           LLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKA

Pig                           LLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKA

Bovine                        LLKSAIVHLINYQDDAELATRALPELTKLLNDEDPVVVTKA

Xenopus laevis                MLKSAIMHLINYQDDAELATRAIPELTKLLNDEDPMVVNKA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 745 Junction plakoglobin
Repeat 132 – 171 ARM 1
Region 132 – 297 Interaction with DSC1 and DSG1
Modified residue 125 – 125 Phosphoserine
Helix 133 – 142



Literature citations
Comprehensive desmosome mutation analysis in North Americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy.
den Haan A.D.; Tan B.Y.; Zikusoka M.N.; Llado L.I.; Jain R.; Daly A.; Tichnell C.; James C.; Amat-Alarcon N.; Abraham T.; Russell S.D.; Bluemke D.A.; Calkins H.; Dalal D.; Judge D.P.;
Circ. Cardiovasc. Genet. 2:428-435(2009)
Cited for: VARIANT ARVD12 ILE-19; VARIANTS HIS-142; ILE-648 AND LEU-697; Role of genetic testing in arrhythmogenic right ventricular cardiomyopathy/dysplasia.
Barahona-Dussault C.; Benito B.; Campuzano O.; Iglesias A.; Leung T.L.; Robb L.; Talajic M.; Brugada R.;
Clin. Genet. 77:37-48(2010)
Cited for: VARIANTS HIS-142 AND LEU-697;
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.