Table 2.
Homozygous sequence variants identified in families A and B.
| Family ID | Family A | Family B |
|---|---|---|
| Affected individuals | IV-1, IV-2 | V-2, V-4, V-5 |
| Transcript ID | NM_001543.5 | NM_001206984.3 |
| Gene name | NDST1 | METTL23 |
| MIM number | 616116 | 615942 |
| Chromosome position | Chr5:149922529 | Chr17:74729285 |
| Nucleotide change | c.1966G>A | c.310T>C |
| Protein change | p.Asp656Asn | p.Phe104Leu |
| SNP number | rs150320391 | - |
| GnomAD frequency | 0.000016 | - |
| SIFT score | 0.08/T | 0/D |
| Polyphen2 score | 0.992/D | 0.891/PD |
| Mutation taster score | 1/D | 1/D |
| CADD score | 27.4 | 31 |
| PROVEAN score | −0.17/N | −4.67/D |
| ACMG classification | PM1 | PM2 |
T, tolerated; N, neutral; D, damaging; PD, probably damaging.