CHST8 R77W - GET-Evidence

Curation:
Currentness:

CHST8 R77W

(CHST8 Arg77Trp)


Short summary

Hypothesized by Cabral et al 2012 (PMID: 22289416) to cause peeling skin syndrome, in a recessive manner. The authors report not seeing this variant in 200 Pakistani controls, but ExAC data finds it carried by 1 in 85 with south asian ancestry. This relatively high allele frequency contradicts the variant having the hypothesized high penetrance effect.

Variant evidence
Computational -
Functional -
Case/Control 5
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, Likely benign

(The "low clinical importance, likely" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

recessive

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr19:34262922: 0.5% (51/10748) in EVS
  • T @ chr19:38954761: 0.8% (1/128) in GET-Evidence
  • Frequency shown in summary reports: 0.5% (51/10748)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr19:34262922

 

Other external references
 

    PolyPhen-2
  • Score: 0.961 (probably damaging)
    Web search results (4 hits -- see all)
  • Type III 98%
    ... Reference(s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R ... (0.984) Polymorphism (dbSNP:rs3865205) 9920877 KRT16 P08779 R127C 130 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... rs10004516) VHL P40337 P81S 80 VAR_005689 CMGC (0.938) CDK (0.954) MAPK (0.987) ...
    www.nih.go.kr/phosphovariant/html/group_whole/TypeII-_97.txt

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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