Table 9.
Missense variants of candidate genes on chromosome 7
| Gene | Missense variants |
|---|---|
| Rps15a | None |
| Arl6ip1 | None |
| Smg1 | None |
| 4930583K01Rik | None |
| Syt7 | Q117R |
| Itpripl2 | R204H, V240L, S420G |
| Coq7 | A290G |
| Tmc7 | C73S, T358S |
| Tmc5 | M11V, Q42L, V82D, A119T, V139I, P179S, A243G, R258K, V448I, E737D |
| Gde1 | None |
| Ccp110 | R180K, I199V, N248S, A326V, A332T, P427T, S439P, S445P, F624S, G746S |
| 9030624J02Rik | S3A, D23G, V122A, G175A, T660M |
| Knop1 | I70M, V49A |
| Iqck | V49A, S148N |
| Gprc5b | None |
| Gpr139 | None |
| Gp2 | V79D, R483G |
The effect of missense mutation was assessed by PROVEAN software. Neutral amino acid substitutions, which do not affect protein stability and function are shown in blue whereas deleterious mutations are labeled in red.