ABCC6 p.Gly1133Cys
| LOVD-ABCC6: |
p.Gly1133Ala
D
|
| Predicted by SNAP2: | A: D (95%), C: D (95%), D: D (95%), E: D (95%), F: D (95%), H: D (95%), I: D (95%), K: D (95%), L: D (95%), M: D (95%), N: D (95%), P: D (95%), Q: D (95%), R: D (95%), S: D (95%), T: D (95%), V: D (95%), W: D (95%), Y: D (95%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Compound heterozygosity for a novel and a recurren... J Dermatol Sci. 2008 Mar;49(3):252-5. Epub 2007 Oct 29. Drera B, Brezzi A, Zoppi N, Venturini M, Barlati S, Pinton PG, Colombi M
Compound heterozygosity for a novel and a recurrent ABCC6 gene mutation in an Italian family with Pseudoxanthoma elasticum.
J Dermatol Sci. 2008 Mar;49(3):252-5. Epub 2007 Oct 29., [PMID:18029147]
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No. Sentence Comment
22 Sequencing analysis of proband`s genomic DNA, disclosed in exon 24 of ABCC6 gene the c.3397G>T transversion and the c.3421C>T transition, leading to p.G1133C missense and p.R1141X nonsense mutations, respectively (Fig. 2A).
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ABCC6 p.Gly1133Cys 18029147:22:151
status: NEW28 The specific amplification of both alleles, using a wild type and a mutated forward primer at nucleotide c.3397, and the sequence analysis of the PCR products showed that the p.G1133C substitution was in trans with the p.R1141X nonsense mutation (Fig. 2B).
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ABCC6 p.Gly1133Cys 18029147:28:177
status: NEW29 Furthermore, the p.G1133C missense mutation was not detected in 200 chromosomes from control Italian donors.
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ABCC6 p.Gly1133Cys 18029147:29:19
status: NEW31 Bioinformatic analysis of the p.G1133C functional effects by PolyPhen tool (available online at http://genetics.bwh.harvard.edu/ pph/) predicted that this mutation is damaging Letter to the Editor 253 Fig. 1 PXE patient family pedigree (A) and clinical findings in the proband (B).
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ABCC6 p.Gly1133Cys 18029147:31:32
status: NEW34 For all these reasons, the p.G1133C substitution is a novel disease causing mutation.
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ABCC6 p.Gly1133Cys 18029147:34:29
status: NEW46 In conclusion, we reported a new Italian PXE family showing intra-familiar variability in the onset and in the systems involvement, in which the disease was due to compound heterozygosity for the novel p.G1133C and the recurrent p.R1141X mutations.
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ABCC6 p.Gly1133Cys 18029147:46:204
status: NEW