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Fig. 1 | BMC Neurology

Fig. 1

From: A female case with novel KDM5C heterozygous variation presenting with Claes-Jensen type-like phonotype

Fig. 1

A Localization of this nonsense mutations (c.3533C > A, p.S1178X) on KDM5C. The variant was located 2 amino-acid upstream of the PHD2 domain. JmN, jumonji-N domain; ARID, AT-rich interacting domain; PHD, plant homeodomain box domain; JmjC, jumonji-C catalytic domain; ZF, zinc finger domain. B Multi-species conservation alignment of KDM5C homologs. The following RefSeq sequences were used for alignment: Homo sapiens NP_001340908.1, Macaca mulatta NP_001244296.1, Monodon monoceros XP_029096216.1, Rousettus aegyptiacus XP_036082315.1, Globicephala mela XP_030706894.1, Prionailurus bengalensis XP_043426298.1, Acinonyx jubatus XP_026909326.1, Puma yagouaroundi XP_040323006.1, Pan troglodytes XP_024209126.1, Lynx canadensis XP_030160481.1, Pteropus alecto XP_024896313.1, Callithrix jacchus XP_035144492.1, Felis catus XP_023105116.1, Panthera tigris XP_042829747.1. C X-chromosome inactivation analysis of the patient and her parents. i: PCR before digestion in the proband; ii: PCR after digestion in the proband; iii: PCR before digestion in her mother; iv: PCR before digestion in her father

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BMC Neurology

ISSN: 1471-2377

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