Patient number | Age range at diagnosis (years) | Phenotype | Nucleotide substitution | Amino acid change | Zygosity | Pseudo deficiency allele |
---|---|---|---|---|---|---|
01 | 0–5 | Infantile | c.342C>T c.1055A>G | p.Arg114X p.Asn350Ser | Compound heterozygote | Present |
02 | 6–10 | Late juvenile | c.342C>T c.601T>C | p.Arg114X p.Tyr201His | Compound heterozygote | No |
03 | 0–5 | Infantile | c.1055A>G c.1109G>A | p.Asn350Ser pArg370Gln | Compound heterozygote | Present |
04 | 0–5 | Infantile | c.841G>A c.1055A>G | p.Asn350Ser p.Asp281Asn | Compound heterozygote | Present |
05 | 36–40 | Adult | c.1055A>G c.1115G>A | p.Asn350Ser and p.Arg372Gln | Compound heterozygote | Present |
06 | 40–45 | Adult | c.1055A>G c.1115G>A | p.Asn350Ser and p.Arg372Gln | Compound heterozygote | Present |
07 | 0–5 | Infantile | c.251C>T c.847G>A | p.Pro84Lys p.Asp283Asn | Compound heterozygote | No |
08 | 6–10 | Early juvenile | c.1178C>G c.1425C>A | p.Thr393Ser p.Ala344Asp | Compound heterozygote | No |
09 | 0–5 | Infantile | c.1178C>G c.1425C>A | p.Thr393Ser p.Ala344Asp | Compound heterozygote | No |
10 | 0–5 | Infantile | c.938G>A | p.Arg313Gln | Homozygote | No |
11 | 30–35 | Adult | c.251C>T | p.Pro84Lys | Heterozygote | No |
12 | 30–35 | Adult | c.847G>A | p.Asp283Asn | heterozygote | No |
13 | 0–5 | Infantile | c.256C>T c.847G>A | p.Arg86Trpp.Asp283Asn | Compound heterozygote | No |
14 | 36–40 | Adult | c.251C>T | p.Pro84Lys | Heterozygote | No |
15 | 6–10 | Late juvenile | c.1178C>G | p.Thr393Ser | Heterozygote | No |
16 | 30–35 | Adult | c.1055A>G | p.Asn350Ser | Heterozygote | Present |
17 | 36–40 | Adult | c.1055A>G | p.Asn350Ser | Heterozygote | Present |
18 | 30–35 | Adult | c.346C>T c.1178C>G | p.Arg116Ter p.Thr393Ser | Heterozygote | No |
19 | 40–45 | Adult | c.346C>T | p.Arg116Ter | Heterozygote | No |
20 | 30–35 | Adult | c.346C>T c.1178C>G | p.Arg116Ter p.Thr393Ser | Heterozygote | No |