Table 7.

Notable PROP1 Pathogenic Variants

Reference SequencesDNA Nucleotide Change
(Alias 1)		Predicted Protein ChangeComment [Reference]
NM_006261​.5
NP_006252​.4 		c.112_124delp.Ser38ProfsTer123Possible founder variant on Indian subcontinent [Turton et al 2005]
c.301_302delAG
(c.296_297delGA)		p.Leu102CysfsTer8Common variant in Europe & Latin America [Dusatkova et al 2016]; founder variant in Lithuania [Navardauskaite et al 2014] & Hutterite population [Wu et al 1998]; see also Genotype-Phenotype Correlations.
c.150delAp.Arg53AspfsTer112Common variant in several populations [Krzisnik et al 1999, Dusatkova et al 2016]; see also Genotype-Phenotype Correlations.
c.263T>Cp.Phe88SerOsorio et al [2000]; see Genotype-Phenotype Correlations.
c.358C>Tp.Arg120CysWu et al [1998]; see Genotype-Phenotype Correlations.

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

From: PROP1-Related Combined Pituitary Hormone Deficiency

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