| Literature DB >> 31969187 |
D Hettiarachchi1, V H W Dissanayake2.
Abstract
After publication of the original article [1], the authors became aware of a typographical error in the original Table 1. Nucleotide substitution c.1425C>A corresponding to amino acid change p.(Ala344Asp) should be corrected as c.1031C>A.Entities:
Year: 2020 PMID: 31969187 PMCID: PMC6977245 DOI: 10.1186/s13104-020-4908-6
Source DB: PubMed Journal: BMC Res Notes ISSN: 1756-0500
Genetic variants in the ARSA gene in Sri Lankan patients with MLD
| 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 | 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 | Compound heterozygote | No |
| 08 | 6–10 | Early juvenile | c.1178C>G c.1031C>A | p.Thr393Ser | Compound heterozygote | No |
| 09 | 0–5 | Infantile | c.1178C>G c.1031C>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 |