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Fig. 1 | Human Genomics

Fig. 1

From: Biallelic variants in NOS3 and GUCY1A3, the two major genes of the nitric oxide pathway, cause moyamoya cerebral angiopathy

Fig. 1

Schematic representation of the NOS3 and GUCY1A3 variant identified in M084, M035 and MP038 probands. Upper panels: NM_000603 and NM_000856 transcripts are the canonical transcripts for NOS3 and GUCY1A3 respectively, and are the ones that are referred in the present paper. Three shorter NOS3 transcripts are referenced in Refseq (NM_001160109, NM_001160110 et NM_001160111), and encode for shorter protein isoforms that have been demonstrated to be non-functional [7]. Seventeen additional GUCY1A3 transcripts are referenced in Refseq. Lower panels: Representation of the human eNOS (NP_000594) and the alpha subunit of sGC (NP_000847), that are referred in the present paper [8, 9]. The variants identified in NOS3 and GUCY1A3 in the present article are positioned on their respective transcript and protein. Legend: H-NOX: heme-NO/O2–binding domain; PAS: Per/Arnt/Sim domain, H: helical domain.

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Human Genomics

ISSN: 1479-7364