ABCC6 p.Ile1350Leu
| LOVD-ABCC6: |
p.Ile1350Leu
D
|
| Predicted by SNAP2: | A: N (57%), C: N (72%), D: D (63%), E: D (59%), F: N (93%), G: D (63%), H: N (53%), K: D (63%), L: N (66%), M: N (72%), N: D (59%), P: D (66%), Q: N (78%), R: D (63%), S: N (53%), T: N (87%), V: N (97%), W: D (53%), Y: N (57%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: N, W: D, Y: D, |
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[hide] Evidence for a founder effect for pseudoxanthoma e... Hum Genet. 2002 Oct;111(4-5):331-8. Epub 2002 Sep 7. Le Saux O, Beck K, Sachsinger C, Treiber C, Goring HH, Curry K, Johnson EW, Bercovitch L, Marais AS, Terry SF, Viljoen DL, Boyd CD
Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa.
Hum Genet. 2002 Oct;111(4-5):331-8. Epub 2002 Sep 7., [PMID:12384774]
Abstract [show]
Pseudoxanthoma elasticum (PXE) is a heritable elastic tissue disorder recently shown to be attributable to mutations in the ABCC6 ( MRP6) gene. Whereas PXE has been identified in all ethnic groups studied to date, the prevalence of this disease in various populations is uncertain, although often assumed to be similar. A notable exception however is the prevalence of PXE among South African Afrikaners. A previous report has suggested that a founder effect may explain the higher prevalence of PXE in Afrikaners, a European-derived population that first settled in South Africa in the 17th century. To investigate this hypothesis, we performed haplotype and mutational analysis of DNA from 24 South African families of Afrikaner, British and Indian descent. Among the 17 Afrikaner families studied, three common haplotypes and six different disease-causing variants were identified. Three of these mutant alleles were missense variants, two were nonsense mutations and one was a single base-pair insertion. The most common variant accounted for 53% of the PXE alleles, whereas other mutant alleles appeared at lower frequencies ranging from 3% to 12%. Haplotype analysis of the Afrikaner families showed that the three most frequent mutations were identical-by-descent, indicating a founder origin of PXE in this population.
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No. Sentence Comment
89 335 Table 3 Silent and neutral variants identified in the ABCC6 gene in a cohort of 24 South African patients with PXE (hm homozygote, ht heterozygote, aa amino acid changes, nt nucleotide changes, i- the intron in which the variant is located, No. of alleles number of variants found in the 48 PXE chromosomes analysed in this study aVariants identified by sequencing only; variants identified in either or both ABCC6 pseudogenes have not been indicated in this table aa nt Status Exon Origin No. of alleles G61D 182G→A ht 2 Afrikaner 1 T215T 645G→A ht 6 Afrikaner 2 K281Ea 841A→G ht, hm 8 Afrikaner, UK 2 T285Ta 855C→T ht, hm 8 Afrikaner, UK 2 I319Va 955A→G ht, hm 8 Afrikaner, UK 2 N411N 1233T→C ht, hm 10 Afrikaner, UK 20 V415V 1245G→A ht, hm 10 All 20 none IVS11+73G→C ht i-11 Afrikaner, UK 2 none IVS11-45C→A ht i-11 UK 1 none IVS11-41A→G ht, hm i-11 Afrikaner, UK 5 none IVS11-22C→A ht i-11 Afrikaner 1 V614A 1841T→C ht, hm 14 All 16 T630Ta 1890C→G ht, hm 15 Afrikaner, UK 11 H632Qa 1896C→A ht, hm 15 Afrikaner, UK 11 A830A 2490C→T ht, hm 19 Afrikaner, UK 6 none IVS21+30G→A ht i-21 UK 2 P945P 2835C→T ht, hm 22 Indian, UK 3 none IVS22-5delTCCC-8 ht i-22 UK 1 none IVS24-16T→C ht i-24 UK 1 none IVS24-3C→T ht i-24 AFK 1 none IVS25+55T→C ht i-25 Afrikaner, UK 8 none IVS25+90G→A ht, hm i-25 All 21 R1268Q 3803G→A ht, hm 27 Afrikaner, UK 4 none IVS27-6G→A ht i-27 Afrikaner 1 none IVS28+49C→T ht, hm i-28 Afrikaner 18 I1350L 4048A→C ht 29 UK 1 none 3` UTR+17G→A ht 3`UTR Afrikaner 2 Silent and neutral variants of ABCC6 An additional 27 variants, assumed to be neutral or silent, were identified in the course of the ABCC6 screening of our cohort of 24 South African PXE individuals (Table 3).
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ABCC6 p.Ile1350Leu 12384774:89:1591
status: NEW