ABCC11 G180R - GET-Evidence

Curation:
Currentness:

ABCC11 G180R

(ABCC11 Gly180Arg)


Short summary

This variant is associated with dry type ear wax (a benign trait) in a recessive manner.

Variant evidence
Computational 1

NBLOSUM=4

Functional 1

ATP-dependent cGMP transport activity significantly reduced in cells expressing this variant

See Yoshiura K et al. 2006 (16444273).

Case/Control 5

Very low P value

See Yoshiura K et al. 2006 (16444273).

Familial 5

Well-established mendelian trait

See MATSUNAGA E 1962 (14471313).

 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Low clinical importance, benign

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

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr16:48258198: 9.8% (1051/10758) in EVS
  • T @ chr16:46815698: 20.3% (26/128) in GET-Evidence
  • Frequency shown in summary reports: 9.8% (1051/10758)

Publications
 

MATSUNAGA E. The dimorphism in human normal cerumen. Ann Hum Genet. 1962 May;25:273-86. PubMed PMID: 14471313.

 

Yoshiura K, Kinoshita A, Ishida T, Ninokata A, Ishikawa T, Kaname T, Bannai M, Tokunaga K, Sonoda S, Komaki R, Ihara M, Saenko VA, Alipov GK, Sekine I, Komatsu K, Takahashi H, Nakashima M, Sosonkina N, Mapendano CK, Ghadami M, Nomura M, Liang DS, Miwa N, Kim DK, Garidkhuu A, Natsume N, Ohta T, Tomita H, Kaneko A, Kikuchi M, Russomando G, Hirayama K, Ishibashi M, Takahashi A, Saitou N, Murray JC, Saito S, Nakamura Y, Niikawa N. A SNP in the ABCC11 gene is the determinant of human earwax type. Nat Genet. 2006 Mar;38(3):324-30. Epub 2006 Jan 29. PubMed PMID: 16444273.

 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr16:48258198

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
hom T @ chr16:48258198

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het T @ chr16:48258198

 

 

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr16:48258198

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
hom T @ chr16:48258198

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr16:48258198

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr16:48258198

 

huCA017E - CGI sample GS01175-DNA_B01 from PGP sample 86206034
hom T @ chr16:48258198

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr16:48258198

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr16:46815699

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr16:46815699

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr16:46815699

 

GS18555 - var-GS18555-1100-36-ASM
hom T @ chr16:46815699

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr16:46815699

 

GS18940 - var-GS18940-1100-36-ASM
hom T @ chr16:46815699

 

GS18942 - var-GS18942-1100-36-ASM
het T @ chr16:46815699

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr16:46815699

 

GS18956 - var-GS18956-1100-36-ASM
hom T @ chr16:46815699

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr16:46815699

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr16:46815699

 

Other external references
 

    dbSNP
  • rs17822931
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.992 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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