ABCB6 p.Ser322Lys
[switch to full view]Comments [show]
None has been submitted yet.
PMID: 24498303
[PubMed]
Liu H et al: "Genome-wide linkage, exome sequencing and functional analyses identify ABCB6 as the pathogenic gene of dyschromatosis universalis hereditaria."
No.
Sentence
Comment
5
Further mutation analysis of ABCB6 in four other DUH families and two sporadic cases by Sanger sequencing confirmed the mutation (c.1358C.T; p.Ala453Val) and discovered a second, co-segregating coding mutation (c.964A.C; p.Ser322Lys) in one of the four families.
X
ABCB6 p.Ser322Lys 24498303:5:223
status: NEW46 A new coding mutation in exon 4 (chr2:220081092, c.964A.C; p.Ser322Lys) was discovered in Family 2, which was heterozygous in all the seven affected individuals and absent in all the seven unaffected members (Figure 2A).
X
ABCB6 p.Ser322Lys 24498303:46:61
status: NEW87 Sequence comparison of ABCB6 across different species showed that both the amino acids affected by DUH mutations (c.1358c.T;p.Ala453Val and c.964A.C; p.Ser322Lys) are highly conserved (Figure 2B), implying that these two residues are key to normal biological function of ABCB6.
X
ABCB6 p.Ser322Lys 24498303:87:152
status: NEW100 A: Two mutations in ABCB6 and their sequencing traces, including c.1358C.T; p.Ala453Val in the Family 1 and c.964A.C; p.Ser322Lys in the Family 2; Arrows indicate the location of the two mutations.
X
ABCB6 p.Ser322Lys 24498303:100:120
status: NEW
PMID: 25288164
[PubMed]
Lu C et al: "Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria."
No.
Sentence
Comment
51
frameshift mutations in ABCB6 have been reported to be responsible for DUH (p.S170G, p.S322K, p.L356P, p.A453V, p.Q555K, p.G579E and c.459delC) [6-8].
X
ABCB6 p.Ser322Lys 25288164:51:87
status: NEW