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NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) AND Spondylometaphyseal dysplasia

Significance: Pathogenic
ClinVar: RCV000018911

Variant: NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys)

Type: Variant
Allele: NM_001844.5(COL2A1):c.2725G>T (p.Gly909Cys) 32406
Gene:
Type: single nucleotide variant
Location: Chr12: 47979519 - assembly GRCh38
Chr12: 48373302 - assembly GRCh37
References: dbSNP: 121912875
OMIM: 120140.0017
UniProtKB: P02458#VAR_001753

Condition

Disease: Spondylometaphyseal dysplasia

Citation

    Tiller et al. (1993, 1995) demonstrated that cartilage from 3 patients with SEMD Strudwick (184250) contained both normal alpha-1(II) collagen chains and chains that were posttranslationally overmodified. Cyanogen bromide peptide analysis and protein microsequencing of type II collagen from 1 patient demonstrated an amino acid substitution, gly709-to-cys, in the abnormal alpha chains. Direct DNA sequencing showed heterozygosity for a GGC-to-TGC transversion at the last glycine codon of exon 39.
PMID:, PMID:7550321