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. 2021 Mar 18;59(4):e23417. doi: 10.1002/dvg.23417

TABLE 2.

List of key ADGRG6 coding variants associated with human disease conditions

Disease/condition Amino acid Domain Mutation (SNP reference) Reference
LCCS9 R7* SP Nonsense homozygous (Ravenscroft et al., 2015)
LCCS9 Q716T, fs*16 GAIN Duplication c2144dup homozygous (Ravenscroft et al., 2015)
LCCS9 V769E GAIN Missense homozygous (Ravenscroft et al., 2015)
Intellectual disability W1088C TM6–7 extracellular loop Missense homozygous (Hosseini et al., 2018)
Periodontitis R1057Q TM5–6 intracellular loop Missense (rs536714306) (Kitagaki et al., 2016)
COPD S123G, K230Q CUB, PTX Missense (rs17280293) (Terzikhan et al., 2018)
Hypobaric hypoxia adaptation S123G CUB Missense (rs17280293) (Eichstaedt et al., 2017)
Pulmonary function K230Q PTX Missense (rs11155242) (Hancock et al., 2010)

Note: Amino acid sequence and numbering are based on the reference sequence NM_198569.3. Italic text indicates amino acid identity or similarity with the zebrafish protein.

Abbreviations: COPD, chronic obstructive pulmonary disease; fs, frame shift. See Figure 2 for domain name abbreviations.