SIX5 P635S - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

SIX5 P635S

(SIX5 Pro635Ser)


Short summary

 

Variant evidence
Computational 4

Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0);
PolyPhen=possibly_damaging(0.438);
Condel=deleterious(0.762)
Mutation Tasting Prediction: Polymorphism p value: 0.974595; no protein features affected.
GVGD: GV 0.00; GD 73.35; Class C65
Multi-alignment of Q8N196.3 [homo sapiens] with: XP_512758.2 [Pan troglodytes] XP_001111437.1 [Macaca mulatta] XP_002829472.1 [Pongo abelii] XP_002762295.1 [Callithrix jacchus] NP_001192695.1 [Bos taurus] NP_035513.1 [Mus musculus] BAA11824.1 [Mus musculus]

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr19:46269076: 40.1% (4291/10688) in EVS
  • A @ chr19:50960915: 44.3% (54/122) in GET-Evidence
  • Frequency shown in summary reports: 40.1% (4291/10688)

Publications
 

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr19:46269076

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom A @ chr19:46269076

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr19:46269076

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het A @ chr19:46269076

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom A @ chr19:46269076

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom A @ chr19:46269076

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het A @ chr19:46269076

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het A @ chr19:46269076

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr19:46269076

 

hu44DCFF - CGI sample GS01669-DNA_C07 from PGP sample 74521372
het A @ chr19:46269076

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het A @ chr19:46269076

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het A @ chr19:46269076

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het A @ chr19:46269076

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr19:46269076

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom A @ chr19:46269076

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het A @ chr19:46269076

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom A @ chr19:46269076

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het A @ chr19:46269076

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr19:46269076

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr19:46269076

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom A @ chr19:46269076

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
het A @ chr19:46269076

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr19:50960916

 

GS18502 - var-GS18502-1100-36-ASM
het A @ chr19:50960916

 

GS18504 - var-GS18504-1100-36-ASM
hom A @ chr19:50960916

 

GS18508 - var-GS18508-1100-36-ASM
het A @ chr19:50960916

 

GS18517 - var-GS18517-1100-36-ASM
het A @ chr19:50960916

 

GS18526 - var-GS18526-1100-36-ASM
hom A @ chr19:50960916

 

GS18555 - var-GS18555-1100-36-ASM
het A @ chr19:50960916

 

GS18558 - var-GS18558-1100-36-ASM
het A @ chr19:50960916

 

GS18940 - var-GS18940-1100-36-ASM
het A @ chr19:50960916

 

GS18942 - var-GS18942-1100-36-ASM
hom A @ chr19:50960916

 

GS18956 - var-GS18956-1100-36-ASM
hom A @ chr19:50960916

 

GS19017 - var-GS19017-1100-36-ASM
hom A @ chr19:50960916

 

GS19239 - var-GS19239-1100-36-ASM
hom A @ chr19:50960916

 

GS19240 - var-GS19240-1100-36-ASM
het A @ chr19:50960916

 

GS19648 - var-GS19648-1100-36-ASM
hom A @ chr19:50960916

 

GS19649 - var-GS19649-1100-36-ASM
hom A @ chr19:50960916

 

GS19669 - var-GS19669-1100-36-ASM
hom A @ chr19:50960916

 

GS19670 - var-GS19670-1100-36-ASM
hom A @ chr19:50960916

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr19:50960916

 

GS19704 - var-GS19704-1100-36-ASM
het A @ chr19:50960916

 

GS19735 - var-GS19735-1100-36-ASM
hom A @ chr19:50960916

 

GS19834 - var-GS19834-1100-36-ASM
het A @ chr19:50960916

 

GS20502 - var-GS20502-1100-36-ASM
het A @ chr19:50960916

 

Other external references
 

    dbSNP
  • rs2014576
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SIX5 gene
    Branchiootorenal Spectrum Disorders
    SIX5-Related Branchiootorenal Spectrum Disorders
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SIX5
    PolyPhen-2
  • Score: 0.891 (probably damaging)
    Web search results (2 hits -- see all)
  • Type III 98%
    Gene name SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID ... Effect Reference(s) for variant Reference(s) for phosphorylation site ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_98.txt
  • Type III 99%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Kinase ... Polymorphism (dbSNP:rs35523678) SIX5 Q8N196 P635S 631 VAR_032946 CK1 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_99.txt

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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