ABCMdb

PMID: 11776382

Wang J, Near S, Young K, Connelly PW, Hegele RA
ABCC6 gene polymorphism associated with variation in plasma lipoproteins.
J Hum Genet. 2001;46(12):699-705., [PubMed]

Sentences

No. Mutations Sentence Comment

67 ABCC6 p.Arg1164* Primer sequences to amplify coding regions of ABCC6 Product Exon Primer sequence 5Ј to 3Ј size (bp) 1 F: GAGACTTAGCGACAGACAGAC 142 R: TCTGCAGCCAAACCAAGCCTG 2 F: CTGCCTTGTACCATCCTAAGG 225 R: CATTGCCTGGTTCCAGGCTC 3 F: GCCTACCAGTTTGCTGTGAC 259 R: TTGTTCTCCACTGTGGCAGG 4 F: TTGCCTGCCACAGTGGAGAAC 344 R: GACTGGCTTGTGTGTGTCAC 5 F: AGAACCACTAGGAAAGCCAGG 321 R: GAGACCTCAAAGTGGAACAGG 6 F: CACAGTTCGTCCTGTCTTCC 268 R: CGAAGAAGAAAGCACTGAGGC 7 F: TGACTTACCCAGGGTCACAC 268 R: TCTGAAGTAGCATCAGGTGAG 8 F: GCCTCTTAAGTGGGTACTCAG 482 R: GCACCAGATGTATAGGCAGAG 9 F: CGACTGATCCTCCACATCTG 368 R: TGAATGCGTTCTCAGCTGCTG 10 F: GAGAGGTTGGCCTAAGAGAC 417 R: CTCTTCCAGCCTCTTGAATGC 11 F: GACCTCCTATCTCATCCTGTG 401 R: GCAGCTCACAGACGACAAGA 12 F: TTGCTGAAGGGTGGCTGTCA 419 R: GAACAGGATCCAGAATGAGTG 13 F: AGGCTGCCCTATCCATGCTTGC 273 R: GGAAGCTGGAGCCAGGTGTAG 14 F: GCTGTTGCCACACATCTTGAG 317 R: ATGGCGTGATCTGCACGTGTCA 15 F: GATTTCTTCCTGCAGCCTCTG 292 R: TGGAAACCTACACCACCTCTC 16 F: CAGATGTGCACAGGATAGTTC 428 R: GTGAGAGGTGGAGAGAATGAG 17 F: CTCATTCTCTCCACCTCTCAC 413 R: TATTGAGCACCTAGCACGTGC 18 F: CATGTTGAGCTGTACCTCACC 361 R: ACTTGGGTTAGGACTGGATGC 19 F: AGTAGAGATAGGGCTTAGCCG 420 R: CACTCCATTCATGCCAGTAGG 20 F: GAAATGGATGGTCAGAGCGG 239 R: GTGGTCCCTTCAGCTACTTC 21 F: AGAGTACAGAGTGTACCCAG 331 R: GTGAGTATCACTGCCAAGTG 22 F: AAATGGTGCTCCTGGTGGGA 492 R: GACGTTTTGCACACTGTTCC 23 F: GAGCCATCATCATGCTACTG 603 R: TCCAGCTGGGTGAAACCTCA 24 F: TTCTGGAAACTACCTCTCTATGTC 341 R: ATACAATATGACCTCAGGTCTCAC 25 F: GTGTCATCTTCCTCTACTCC 370 R: CTTCAAAGGTCCCACTAGCA 26 F: TGAAGGAAGAGAGGGACCTG 443 R: GTGACTCTGACCTATAGTGG 27 F: CCATCTTGTGTGAAGTCTTAGAG 255 R: CCTTTGGCCTAAACTCCATGAA 28 F: TGGAAAGAGAGATGGAAGGTAG 521 R: AGCACACTTGTACTGCAGCTG 29 F: CTCCAGGATCAGCATCATCC 436 R: CAGAGACTGTGTCAGAGCTTG 30 F: GCAGGAACAGGCTTCCTATC 618 R: CTCCATAGAAGTCCTGCTTTCC 31 F: GAAAGCAGGACTTCTATGGAG 343 R: GAGCAAACACAGGTCTAGACTC A rare ABCC6 mutation in PXE with dyslipidemia The sequencing strategy outlined earlier resulted in the identification of homozygosity for a novel ABCC6 mutation in the PXE subject with dyslipidemia, namely, R1164X (OMIM 603234.0013). Login to comment 88 ABCC6 p.Arg1164* ABCC6 sequence polymorphisms Exon Nucleotide Amino acid Allele frequencies 10 1256TϾC N411 1256C 0.42 in Caucasians 1268GϾA V415 1268A 0.42 in Caucasians 14 1864TϾC VϾA614a A614 0.17 in Chinese 0.27 in Oji-Cree 0.32 in South Asians 0.41 in Africans 0.45 in Caucasians 0.56 in Inuit 15 1913GϾC T630 1913C 0.40 in Caucasians 1919CϾA HϾQ632 Q632 0.40 in Caucasians 19 2513CϾT A830 2513T 0.08 in Caucasians 24 3513CϾT R1164X X1164 Absent from 223 samples 27 3826GϾA RϾQ1268a Q1268 0.04 in Africans 0.06 in Chinese 0.14 in Oji-Cree 0.16 in South Asians 0.17 in Inuit 0.30 in Caucasians 28 4001CϾT D1326 4001T 0.03 in Caucasians a These SNPs were determined in several ethnic groups because of ease of analysis Table 3. Login to comment