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).