CHST8 R77W - GET-Evidence

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Curation:
Currentness:

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CHST8 R77W

(CHST8 Arg77Trp)


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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
 

Added in this revision:

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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