. Author manuscript; available in PMC: 2015 Aug 5.

Published in final edited form as: Nat Rev Gastroenterol Hepatol. 2014 Sep 30;11(12):750–761. doi: 10.1038/nrgastro.2014.155

Table 2.

Mutations in genes causing polycystic liver diseases resulting in change of function with clinical significance

Gene	Locus	Nucleotide change	Amino acid change	OMIM number	Phenotype MIM number
PRKCSH	19p13.2	IVS16, A-G, −2	–	177060.0001	174050
		IVS4, G-C, +1	–	177060.0002
		2-bp del, IVS16GT, +1	–	177060.0003
		c.1240C>T	p.Gln414Ter	177060.0004
		c.1269C>G	p.Tyr423Ter	177060.0005
		1-bp ins, 216A	–	177060.0006

SEC63	6q21	c.173G>A	p.Trp58Ter	608648.0001	174050
		1-bp ins, 442A	–	608648.0002
		IVS8ds, G-A, +1	–	608648.0003
		c.1702_1704del	p.Glu568del	608648.0004

LRP5	11q13.2	c.1360G>A	p.Val454Met	Not assigned	Not assigned
		c.3562C>T	p.Arg1188Trp	Not assigned
		c.4587G>C	p.Arg1529Ser	Not assigned
		c.4651G>A	p.Asp1551Asn	Not assigned

PKD1	16p13.3	IVSds, G-C, +1	–	601313.0001	173900
		c.12124C>T	p.Gln4042Ter	601313.0002
		15-bp del	–	601313.0003
		c.12682C>T	p.Arg4228Ter	601313.0004
		c.11512C>T	p.Gln3838Ter	601313.0005
		c.12261T>A	p.Cys4087Ter	601313.0006
		c.11457C>A	p.Tyr3819Ter	601313.0007
		12036G-A	–	601313.0008
		28-bp del, nt6434	–	601313.0009
		IVS14, G-A, −1	–	601313.00010
		c.971G>T	p.Arg324Leu	601313.00011
		c.2534T>C	p.Leu845Ser	601313.00012
		c.5764C>T	p.Gln1922Ter	601313.00013
		2-bp del, 5224AG	–	601313.00014
		c.12420G>A	p.Trp4140Ter	601313.00015
		Gly2579del, 8-bp del	–	601313.00016

PKD2	4q22.1	c.1139G>A	p.Trp380Ter	173910.0001	613095
		c.2224C>T	p.Arg742Ter	173910.0002
		c.1213C>T	p.Gln405Ter	173910.0003
		1-bp ins, 693C	–	173910.0004
		c.1390C>T	p.Arg464Ter	173910.0005
		1-bp ins, 2160A	–	173910.0006
		1-bp ins, 197-203C	–	173910.0007
		c.1532A>T	p.Asp511Val	173910.0008
		2-bp del/1-bp ins, nt1934	–	173910.0009
		Ex3dup	–	173910.00010
		c.305_306insGAG	p.Glu102_Val103insArg	173910.00011

PKHD1	6p12.2	c.107C>T	p.Thr36Met	606702.0001	263200
		c.4991C>T	p.Ser1664Phe	606702.0002
		c.9053C>T	p.Ser3018Phe	606702.0003
		c.5221G>A	p.Val1741Met	606702.0004
		c.8011C>T	p.Arg2671Ter	606702.0005
		c.10658T>C	p.Ile3553Thr	606702.0006
		c.1486C>T	p.Arg496Ter	606702.0007
		c.10412T>G	p.Val3471Gly	606702.0008
		IVS46ds, A-G, +653	–	606702.0009

Data were obtained in June 2014 from the Online Mendelian Inheritance in Man (OMIM) of the National Center for Biotechnology Information (NCBI). Four new mutations in LRP5 have been described but the OMIM number and the phenotype (MIM number) have not yet been assigned. The mutations listed consist of single nucleotide polymorphisms resulting in an amino acid change, exon duplications, small deletions and insertions, and splice site mutations. Abbreviations: bp, base pair; del, small deletion; ds, donor splice site; ER, endoplasmic reticulum; Ex3dup, exon 3 duplication; ins, insertion; IVS, intervening sequence. Permission obtained from the Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, John Hopkins University (Baltimore, MD), September 2014. World Wide Web URL: http://omim.org/.