CBS POLYMORPHISMS

Position in genomic DNA

Position in cDNA

Type of polymorphism

Allelic variants observed

Prevalence of allelic variants in Caucasians

-6921

 

STR

5 or 6 repeats of TTTC

0.66/0.34

-5697

 

STR

14/15/16/17/18 repeats of GT

0.08/0.02/0.60/0.28/0.02

-3791

 

SNP

G/A

0.99/0.01

6955

699

SNP in CpG

C/T

0.65/0.35

9122

833*

SNP

T/C

0.94/0.06

9132

844*

del/ins

del/ins

0.94/0.06

11686

1080

SNP in CpG

C/T

0.55/0.45

13514

 

SNP

G/A

0.99/0.01

13617

 

SNP

A/G

0.76/0.24

13715

 

SNP in CpG

C/T

0.91/0.09

13800

 

SNP in CpG

G/A

0.76/0.24

13904

 

SNP in CpG

C/T

0.76/0.24

14048

 

VNTR

16/17/18/19/21 repeats of a 31 bp motif

0.10/0.80/0.07/0.03

18854

1985

SNP in CpG

C/T

0.63/0.37


Polymorphisms in the CBS gene. Positions of polymorphisms in the CBS gene and in CBS cDNA are numbered according to the reference sequence of the CBS gene (GenBank accession numbers AF042836 and L19501, respectively); adenosine in the initiator methionine codon was designated number 1. The types of polymorphisms include short tandem repeats (STR), single nucleotide polymorphisms (SNP) either within or outside the highly mutable CpG dinucleotides, insertions or deletion (ins/del) and a variable number of tandem repeats (VNTR). The allelic variants and their prevalence are representative for Caucasians from Central Europe (approx. 100-600 Czech individuals were examined for different polymorphisms), and may vary considerably from population to population. *, the c.844ins68 (ins68bp) is always linked in cis with the c.833T>C.

Data for this table has been adapted from ENCYCLOPEDIA OF THE HUMAN GENOME and Kraus et al. (1998).


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