Condition: COMPLEMENT COMPONENT 2 DEFICIENCY
rs151340617 in
C2-AS1;C2;CYP21A2 gene and
COMPLEMENT COMPONENT 2 DEFICIENCY
PMID 9670930 1998 A novel type II complement C2 deficiency allele in an African-American family.
PMID 8621452 1996 Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.
rs9332736 in
C2-AS1;CYP21A2;C2 gene and
COMPLEMENT COMPONENT 2 DEFICIENCY
PMID 1577763 1992 Type I human complement C2 deficiency. A 28-base pair gene deletion causes skipping of exon 6 during RNA splicing.
rs28934590 in
C2;CYP21A2 gene and
COMPLEMENT COMPONENT 2 DEFICIENCY
PMID 8621452 1996 Type II human complement C2 deficiency. Allele-specific amino acid substitutions (Ser189 --> Phe; Gly444 --> Arg) cause impaired C2 secretion.
PMID 9670930 1998 A novel type II complement C2 deficiency allele in an African-American family.
PMID 9670930 1998 Analysis of genomic DNA from members of the patient's family indicated that 1) the proband as well as one of his sisters inherited the type I C2D allele from their father and the novel type II C2D allele from their mother; 2) the polymorphic MaeII site caused by the G954C transversion is associated with the type I C2D allele; and 3) the novel C111Y mutation is associated in this family with the haplotype HLA-A28, B58, DR12.