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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

Fig. 2

Chromatogram showing heterozygous RP1 variation: (a) Mother (b) First child (c) Third child (d) Father (e) Second child (f) Maternal grandfather (g) Multiple amino acid sequence alignment analysis shows that the Amino acid p.Q1546 is moderately conserved among the primates (h) In silico RP1 protein functional analysis illustrating the functional domain, enzyme active site and the variation site

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BMC Medical Genomics

ISSN: 1755-8794

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