Table 6.

Notable FAM111B Pathogenic Variants

Reference SequencesDNA Nucleotide ChangePredicted Protein ChangeComment [Reference]
NM_198947​.3
NP_945185​.1 		c.1261_1263delAAGp.Lys421delMay be assoc w/less severe extracutaneous phenotype [Khumalo et al 2006, Mercier et al 2013, Mercier et al 2015, Seo et al 2016, Takeichi et al 2017]. Further studies are needed.
c.1247T>Cp.Phe416Ser
c.1289A>Cp.Gln430Pro
c.1861T>Gp.Tyr621Asp
c.1874C>Ap.Thr625Asn
c.1879A>Gp.Arg627Gly
c.1881A>Tp.Arg627Ser
c.1883G>Ap.Ser628Asn
c.1884T>Ap.Ser628Asn

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: Hereditary Fibrosing Poikiloderma with Tendon Contractures, Myopathy, and Pulmonary Fibrosis

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