ABCC6 p.Ala830Gly
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 12673275
[PubMed]
Hu X et al: "ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum."
No.
Sentence
Comment
159
Table 4 Polymorphic sequence changes identified in ABCC6 Nucleotide Amino acid Location Estimated frequency (%) CA(18) F Intron4 68 V415V 1245G>A 10 33 V614A 1841T>C 14 52 T630T 1890C>G 15 22 H632Q 1896C>A 15 24 A830G 2490C>G 19 25 P945P 2846C>T 22 50 L968L 2904G>A 22 20 Int(22) F Intron22 50 R1268Q 3808G>A 27 38 The definition of disease-associated alleles essentially follows the criteria described by Le Saux et al.22 In summary, sequence variants predicted to result in nonsense or splice-site changes were considered to be disease-associated alleles if they are absent in DNA of a panel of at least 100 controls.
X
ABCC6 p.Ala830Gly 12673275:159:212
status: NEW
PMID: 12714611
[PubMed]
Hu X et al: "Analysis of the frequent R1141X mutation in the ABCC6 gene in pseudoxanthoma elasticum."
No.
Sentence
Comment
104
Three of these were used in this study to construct the following haplotypes: (1) 1896 C3A in exon 15 predicting an H632Q substitution, (2) 2490 C3G in exon 19 predicting an A830G substitution, and (3) 3803 G3A in exon 27 predicting a R1268Q substitution.
X
ABCC6 p.Ala830Gly 12714611:104:174
status: NEW