TABLE 2.
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.