Table 3. Family MRQ11 homozygous and compound heterozygous variant validation using Sanger sequencing and in silico prediction.
| Gene (NM ID) | Protein function | cDNA change | Amino acid change | PhyloP | Grantham distance | SIFT | Mutation taster | Polyphen2 | Zygosity | Segregation in family |
| SMOX (NM_175839.2) | Oxidation reduction | c.1604C>A | p.(Ser535Tyr) | 5.409 | 144 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| TAS1R2 (NM_152232.2) | Signal transduction | c.971C>T | p.(Gly324Asp) | 5.23 | 94 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| ATP11A (NM_015205.2) | ATP biosynthetic process | c.64G>T | p.(Asp22Tyr) | 5.14 | 160 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| ADORA2B (NM_000676.2) | Positive regulation of cAMP biosynthetic process | c.590T>C | p.(Ile197Thr) | 4.87 | 89 | Deleterious | Disease causing | Probably damaging | Homozygous | No |
| ZNF589 (NM_016089.2) | Regulation of transcription, DNA-dependent | c.956T>A | p.(Leu319His) | 2.965 | 100 | Deleterious | Polymorphism | Probably damaging | Homozygous | Yes |
| ZNF502 (NM_033210.4) | Unknown | c.746G>A | p.(Arg249His) | 1.425 | 29 | Tolerated | Not disease causing | Probably not damaging | Homozygous | No |
| ADHFE1 (NM_144650.2) | Oxidation reduction | c.955A>G | p.(Ile319Val) | 3.51 | 29 | Tolerated | Disease causing | Probably not damaging | Heterozygous | No |
| ADHFE1 (NM_144650.2) | Oxidation reduction | c.1172C>T | p.(Thr391Ile) | 1.26 | 89 | Tolerated | Disease causing | Probably damaging | Heterozygous | No |
| CMYA5 (NM_153610.3) | Unknown | c.7472T>C | p.(Ile2491Thr) | 2 | 89 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| CMYA5 (NM_153610.3) | Unknown | c.8534G>A | p.(Arg2845Lys) | 0.51 | 26 | Tolerated | Not disease causing | Probably not damaging | Heterozygous | No |
| DCHS1 (NM_003737.2) | Calcium-dependent cell-cell adhesion | c.3017C>T | p.(Arg1006His) | 2.55 | 29 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| DCHS1 (NM_003737.2) | Calcium-dependent cell-cell adhesion | c.1265T>A | p.(Tyr422Phe) | 4.91 | 22 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| DPAGT1 (NM_001382.3) | UDP-N-acetylglucosamine metabolic process | c.951G>C | p.(Ser317Arg) | 4.39 | 110 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| DPAGT1 (NM_001382.3) | UDP-N-acetylglucosamine metabolic process | c.38A>T | p.(Ile13Asn) | 4.86 | 149 | Deleterious | Disease causing | Probably damaging | Heterozygous | No |
| DENND2C (NM_001256404.1) | Unknown | c.1129T>C | p.(Lys377Glu) | 3.608 | 56 | Unknown | Unknown | Unknown | Heterozygous | No |
NM, mRNA accession number; PhyloP, Phylogenetic P-values; Polyphen, Polymorphism phenotyping; SIFT, Sorting intolerance from tolerance, Mutation transfer (http://www.mutationtaster.org)