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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family

Fig. 3

Mutation analysis. a Branch of the affected family subjected to mutation analysis. b Sanger sequencing of exon 6 of the TCIRG1 gene illustrating c.624delC (p.P208PfsX1) variation. The affected individuals are homozygous for this deletion, whereas phenotypically normal parents are found heterozygous having normal as well as mutant allele. Site of variation is indicated by arrow. c Allele-specific amplification is also supporting the homozygous deletion mutation as allele-specific band of 269 bp is present in carrier individuals (III-6, III-7, IV-2) while absent in affected subjects (IV-1 & IV-3)

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