TABLE 1.
Mutation | Amino Acid | Domain | Reported phenotype | Reference |
---|---|---|---|---|
stl47 | △5+3, N68K, fs*28 | CUB | ear, radial sorting, PNS myelination | (Petersen et al., 2015) |
stl464 | D134A, F135A | CUB | ear & PNS myelination | (Leon et al., 2020) |
fr24 | L463* | SEA | ear & PNS myelination | (Geng et al., 2013) |
st49 | Y782* | GAIN | ear & PNS myelination | (Monk et al., 2009; Pogoda et al., 2006) |
vu39 | W804* | GPS | ear & PNS myelination | (Geng et al., 2013) |
stl215 | △G831, I832 | Stachel | ear & PNS myelination | (Liebscher, Schön, et al., 2014) |
st63 | C917Y | TM2 | PNS myelination | (Monk et al., 2009; Pogoda et al., 2006) |
tb233c | I963N | TM4 | ear & PNS myelination | (Geng et al., 2013; Whitfield et al., 1996) |
tk256a | P969L | TM4 | ear & PNS myelination | (Geng et al., 2013; Whitfield et al., 1996) |
Amino acid sequence and numbering are based on the reference sequence NM_001163291.2, with the exception of W804, which was reported as C804 in the reference sequence (see discussion in Geng et al. 2013). N68 was reported as Q68 in Petersen et al. 2015. Italic text indicates amino acid identity or similarity with the human protein. Abbreviations: △, deletion; fs, frame shift; see Figure 2 for domain name abbreviations.