Table 6.

COMP Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein Change
(Alias 1)		Comment
NM_000095​.2
NP_000086​.2 		c.1417_1419delGACp.Asp473del 2
(Asp469del)		See Genotype-Phenotype Correlations.
c.1417_1419dupGACp.Asp473dup 2
(Asp469dup)
c.1586C>Tp.Thr529IleSee Molecular Pathogenesis.
c.1747G>Ap.Glu583Lys
c.1754C>Tp.Thr585Met
c.1754C>Gp.Thr585Arg
c.1754C>Ap.Thr585Lys
c.1760A>Gp.His587Arg
c.2155G>Ap.Gly719Ser
c.2156G>Ap.Gly719Asp

Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​.hgvs.org). See Quick Reference for an explanation of nomenclature.

1.

Variant designation that does not conform to current naming conventions

2.

The reference sequence NP_000086​.2 has five tandem Asp residues, the first at residue 469 and the last at residue 473 (i.e., 469-AspAspAspAspAsp-473). Standard nomenclature has a rule that assigns a change (deletion or duplication of an Asp residue) in a single amino acid stretch of tandem repeats to the most C-terminal position. Thus, the standard nomenclature is p.Asp473del or p.Asp473dup.

From: COMP-Related Pseudoachondroplasia

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