KEL T193M - GET-Evidence

Curation:
Currentness:

KEL T193M

(KEL Thr193Met)


Short summary

This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.

Variant evidence
Computational -
Functional 1

Serological testing is used to define Kell groups.

See unpublished research (below).

Case/Control 5

OR 1,311 (actually infinite), significance around 1 * 10^-17.

See Lee S et al. 1995 (7849312), unpublished research (below).

Familial 5

This is a well-established heritable and fully penetrant variant.

See Lee S et al. 1995 (7849312), unpublished research (below).

 
Clinical importance
Severity

See unpublished research (below).

Treatability 2

Complications may occur when K1-negative mothers carry a fetus with this variant, especially if previously exposed to blood transfusions.

See unpublished research (below).

Penetrance -
 

Impact

Low clinical importance, benign

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

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • A @ chr7:142655008: 3.2% (345/10758) in EVS
  • A @ chr7:142365129: 3.9% (5/128) in GET-Evidence
  • Frequency shown in summary reports: 3.2% (345/10758)

Publications
 

Lee S, Wu X, Reid M, Zelinski T, Redman C. Molecular basis of the Kell (K1) phenotype. Blood. 1995 Feb 15;85(4):912-6. PubMed PMID: 7849312.

This paper demonstrates that the K1 variant contains a T193M mutation. Out of 42 individuals with known phenotype, 6 (?) were K1 homozygous (12 K1 or K2 homozygous), 6 were K1 heterozygous (K1/K2), and the remaining 24 were known to have other alleles. The T194M variant tracked perfectly. We estimate this as case+:18, case-:0, control+: 0, control-:54, giving a significance of 2 * 10^-17. An equivalent significance is reached by 19, 1, 1, 69, giving an odds ratio estimate of 1,311.

Genomes
 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het A @ chr7:142655008

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het A @ chr7:142655008

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het A @ chr7:142655008

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr7:142365130

 

GS19700 - var-GS19700-1100-36-ASM
het A @ chr7:142365130

 

Other external references
 

    dbSNP
  • rs8176058
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.999 (probably damaging)
    Web search results (11 hits -- see all)
  • The Kell blood group -- Blood Groups and Red Cell Antigens ...
    The KEL gene encodes the Kell antigens. KEL is highly polymorphic. ... the corresponding k and K antigens differ by a single amino acid change (T193M) ...
    ncbi.nlm.nih.gov/bookshelf/br.fcgi?...&part=ch08Kell
  • Chapter 8. The Kell blood group
    The KEL gene is found on chromosome 7, at 7q33, and contains 19 exons that span ... The KEL gene is highly polymorphic, with different alleles at this locus ...
    ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?...&blobtype=pdf
  • Chapter 8 the Kell Blood Group
    Molecular basis The KEL gene encodes the Kell antigens. KEL is highly polymorphic. ... k and K antigens differ by a single amino acid change (T193M) ...
    www.scribd.com/doc/4366550/Chapter-8-the-Kell-Blood-Group
  • Blood -- Identification of a Defect in the Intracellular ...
    ... nucleotide substitutions into the coding region of the common KEL allele, as ... K: T193M; Kpb to Kpa: R281W; Jsb to Jsa: L597P and demonstrated that it is ...
    bloodjournal.hematologylibrary.org/cgi/content/full/94/1/310
  • The Kell and XK proteins of the Kell blood group are not co ...
    The targeted disruption of of Kel in mouse enabled us to identify phenotypes ... (T193M)binds of the Kell K2 antigen, and located within a putative N-glycosylation ...
    lib.bioinfo.pl/pmid:17379193
  • The value of DNA analysis for antigens of the Kell and Kx ...
    T (exon 6), which substitutes T193M. In the wild-type k phenotype, ... are unreliable, genotyping methods for KEL*1 and KEL*2. using fetal DNA from amniocytes ...
    www.zhbsd.ch/pdf/journalclub/Lee_Kellnull_2007_JC.pdf
  • Ringtones For Motorola E1 - Wallpapers MotorolaE1
    Lange Frans & Yo Kel. De Rijken Moeten Nie. Srv. Mannen Bier En .... DJ Boozywoozy. Party ... T193m. A830. Makes. Airam. Alcatel. BlackBerry. Casio. Dbtel. Fujitsu. Haier. Hitachi. Kyocera. LG ...
    www.mobile50.com/motorola/E1.asp
  • CGC Centro de Genética Clínica
    HERG, KCNE1, KCNE2, KCNQ1 and SCN5A. Screening for frequent mutations ... KEL (KELL-CELLANO BLOOD GROUP SYSTEM, KELL NULL) 110900. 1 Mutation: T193M. HEPATIC ADENOMA ...
    www.cgc.pt/testes/?imr=34&imc=37n&fmo=molecular&letra=H
  • METHODS AND PRODUCTS FOR IN VITRO GENOTYPING - Patent ...
    An in vitro method for genotyping genetic variations in a individual, and products for use in the method. ... The antigens of the KEL system are very important in transfusions; ...
    www.freepatentsonline.com/y2008/0070253.html

Other in silico analyses
 

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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