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NM_004300.4(ACP1):c.317A>G (p.Gln106Arg) AND ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF

Significance: Benign
ClinVar: RCV000014681

Variant: NM_004300.4(ACP1):c.317A>G (p.Gln106Arg)

Type: Variant
Allele: NM_004300.4(ACP1):c.317A>G (p.Gln106Arg) 28724
Gene:
Type: single nucleotide variant
Location: Chr2: 277003 - assembly GRCh38
Chr2: 277003 - assembly GRCh37
References: dbSNP: 79716074
OMIM: 171500.0001
UniProtKB: P24666#VAR_006171

Condition

Disease: ACID PHOSPHATASE 1, SOLUBLE, A/B POLYMORPHISM OF

Citation

    Dissing and Johnsen (1992) provided evidence for the molecular basis of the 3 common alleles in Caucasians: ACP1*A, ACP1*B, and ACP1*C, which give rise to 6 phenotypes (A, B, C, AB, AC, and BC). Each allele encodes 2 isozymes, f and s, which show fast and slow electrophoretic mobility, respectively. The f and s isozymes are produced in allele-specific ratios: 2:1 for Af and As, 4:1 for Bf and Bs, and 1:4 for Cf and Cs, respectively. The f and s isozymes appear to be generated by alternative splicing of exons in the primary RNA transcript. The coding portions of the ACP1*B and ACP1*C alleles are identical; the only difference at the protein level is the ratio of f and s isozyme. Thus, a difference in the splicing mechanism presumably accounts for the difference in ratio. Af and As differ from the Bf and Bs isozymes by a single substitution at residue 105: arg and gln, respectively. These observations explain the electrophoretic identity of the B and C isozyme pairs.
PMID:1627603