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NM_002108.3(HAL):c.623G>T (p.Arg208Leu) AND Histidinemia

Significance: Affects
ClinVar: RCV000001758

Variant: NM_002108.3(HAL):c.623G>T (p.Arg208Leu)

Type: Variant
Allele: NM_002108.3(HAL):c.623G>T (p.Arg208Leu) 16729
Gene:
Type: single nucleotide variant
Location: Chr12: 96386550 - assembly GRCh37
Chr12: 95992772 - assembly GRCh38
References: dbSNP: 121434328
OMIM: 609457.0002
UniProtKB: P42357#VAR_022916

Condition

Disease: Histidinemia

Citation

    In a Japanese patient (patient 44) with histidinemia (235800), Kawai et al. (2005) identified a heterozygous 623G-T transversion in exon 9 of the HAL gene, resulting in an arg208-to-leu (R208L) substitution. The authors noted that the presence of another arginine at position 208 likely creates a strong negative charge in this portion of the polypeptide, and a change to a neutral threonine (see 609457.0001) or leucine at one of these arginines could cause a major conformational alteration in the enzyme. This patient also carried an intronic polymorphism in the HAL gene (IVS6-5T-C).
PMID:15806399