Table 7.

KPTN Pathogenic Variants Referenced in This GeneReview

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_007059​.3
NP_008990​.2 		c.714_731dup18p.Met241_Gln246dupFounder variant in Ohio Amish community [Baple et al 2014]; recurrent variant in persons of European ancestry (See Prevalence.)
c.776C>Ap.Ser259TerFounder variant in Ohio Amish community [Baple et al 2014] (See Prevalence.)
c.597_598dupp.Ser200IlefsTer55Recurrent variant in persons from Brazil, Spain, France, Germany, Ireland, & the UK (See Prevalence.)

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.

From: KPTN-Related Disorder

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