Table 2 of
Liskova, Mol Vis 2007;
13:1887-1891.Table 2 of
Liskova, Mol Vis 2007;
13:1887-1891.
Table 2. Sequence variants detected in VSX1 in 85 probands from unrelated keratoconus families
Allele 'a' represents the nucleotide of the reference sequence. The nomenclature of the sequence variants follows current recommendations of the Human Genome Variation Society and was described by den Dunnen et al. [39]. The "A" of the ATG-translation initiation codon is referred as nucleotide +1. The last column shows the ethnic backgrounds of the probands. Black represents African or African-Caribbean, Asian stands for Indian or Pakistani, white for white British and white 'others' as self reported categories by the study participants.
Observed
Position in the gene Nucleotide change Protein change genotypes Ethnicity of
Reference SNP ID --------------------- ------------------------- --------------------- ------------ probands with
reported by Variant 1 Variant 2 Variant 1 Variant 2 Isoform A Isoform B aa ab bb alleles ab or bb
------------------ --------- --------- ----------- ----------- --------- --------- -- -- -- ----------------
rs8123716 Exon 1 Exon 1 c.18G>T c.18G>T p=(S6S) p=(S6S) 76 9 0 Asian (3),
White (5),
Unclassified (1)
Aldave et al. [34] Exon 1 Exon 1 c.174G>T c.174G>T p=(P58P) p=(P58P) 83 2 0 White (2)
rs6115023 Exon 1 Exon 1 c.315C>A c.315C>A p.D105E p.D105E 83 2 0 Black (2)
rs6037016 Exon 1 Exon 1 c.339C>T c.339C>T p=(G113G) p=(G113G) 83 2 0 Black (2)
rs6050307 Exon 1 Exon 1 c.391C>A c.391C>A p.R131S p.R131S 80 4 1 Black (5)
Heon et al. [17] Exon 2 Exon 2 c.432C>G c.432C>G p.D144E p.D144E 84 1 0 White (1)
Novel 1 Intron 2 Intron 2 c.504-10G>A c.504-10G>A - - 84 1 0 Unclassified (1)
Novel 2 Intron 2 Intron 2 c.504-24C>T c.504-24C>T - - 82 3 0 Asian (3)
rs12480307 Exon 3 Exon 3 c.546A>G c.546A>G p=(A182A) p=(A182A) 32 44 9 Asian (15),
White (24),
Black (11),
Unclassified (3)
rs6138482 Intron 3 Exon 3 c.627+23G>A c.650 G>A - p.R217H 67 17 1 Asian (4),
White (13),
Black (1)
Bisceglia et al. Intron 3 Exon 3 c.627+84T>A c.711T>A - p=(P237P) 32 44 9 Asian (15),
[31] White (24),
Black (11),
Unclassified (3)
|