SLC45A2 E272K - GET-Evidence

Curation:
Currentness:

SLC45A2 E272K

(SLC45A2 Glu272Lys)


Short summary

Pigmentation allele for black hair in Caucasian population.

Variant evidence
Computational -
Functional -
Case/Control 5

See Graf J et al. 2005 (15714523).

Familial -
 
Clinical importance
Severity

See Graf J et al. 2005 (15714523).

Treatability

See Graf J et al. 2005 (15714523).

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

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • T @ chr5:33963870: 2.9% (313/10758) in EVS
  • T @ chr5:33999626: 16.4% (21/128) in GET-Evidence
  • Frequency shown in summary reports: 2.9% (313/10758)

Publications
 

Graf J, Hodgson R, van Daal A. Single nucleotide polymorphisms in the MATP gene are associated with normal human pigmentation variation. Hum Mutat. 2005 Mar;25(3):278-84. PubMed PMID: 15714523.

This mutation of the SLC45A2 gene (a.k.a. MATP) is significantly correlated with dark hair, skin and eye color in Caucasians.
Cases/controls for skin pigmentation: case+28 case-338 control+50 control-2320

Genomes
 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr5:33963870

 

GS18501 - var-GS18501-1100-36-ASM
het T @ chr5:33999627

 

GS18526 - var-GS18526-1100-36-ASM
hom T @ chr5:33999627

 

GS18537 - var-GS18537-1100-36-ASM
hom T @ chr5:33999627

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr5:33999627

 

GS18940 - var-GS18940-1100-36-ASM
het T @ chr5:33999627

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr5:33999627

 

GS18947 - var-GS18947-1100-36-ASM
hom T @ chr5:33999627

 

GS18956 - var-GS18956-1100-36-ASM
het T @ chr5:33999627

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr5:33999627

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr5:33999627

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr5:33999627

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr5:33999627

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr5:33999627

 

Other external references
 

    dbSNP
  • rs26722
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.025 (benign)

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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