. 2014 Apr 3;15:41. doi: 10.1186/1471-2350-15-41

Table 1.

Likely pathogenic sequence changes of the PKD1 gene identified by HRM and direct sequencing in a set of patients from the Czech population

Family	Exon/intron	Nucleotide change	Amino acid change/predicted effect	Predicted location within *PKD1* domains	Reference
394 ^ISOL.	4	c.450_459del10	p.Glu151ArgfsX135	LRRNT	Novel
338 ^PKD1	7	c.1564 T > C	p.Cys522Arg	C-type lectin domain	Novel
39 ^INDET.	15	c.3312_3313dupC	p.Val1105ArgfsX4	PKD repeats	[16]
429 ^PKD1	15	c.4551_4581del31	p.Tyr1517X	PKD repeats	Novel
236 ^PKD1	15	c.5650G > T	p.Glu1884X	PKD repeats	Novel
478 ^INDET.	15	c.5824_5825dupC	p.Arg1942ProfsX47	PKD repeats	[36]
301 ^PKD1	15	c.5995G > A	p.Gly1999Ser	PKD repeats	[12]
496 ^ISOL.	15	c.5995G > A	p.Gly1999Ser	PKD repeats	[12]
315 ^PKD1	15	c.6130A > G	p.Asn2044Asp	PKD repeats	Novel
249 ^INDET.	15	c.6586C > T	p.Gln2196X	REJ domain	Novel
427 ^ISOL.	15	c.6895delG	p.Ala2299ProfsX14	REJ domain	Novel
237 ^PKD1	16	c.6960_6961insG	p.Ser2321GlufsX98	REJ domain	Novel
253 ^PKD1	16	c.7000_7001dupGCTGGCG	p.Val2334GlyfsX87	REJ domain	[37]
246 ^PKD1	17	c.7144_7156del13insTAC	p.Ser2382TyrfsX234	REJ domain	Novel
112 ^INDET.	18	c.7484G > A	p.Cys2495Tyr	REJ domain	Novel
403 ^PKD1	20	c.7758_7761del4	p.Trp2587CysfsX31	REJ domain	Novel
357 ^INDET.	20	c.7856 T > G	p.Leu2619Arg	REJ domain	Novel
438 ^ISOL.	23	c.8309A > T	p.Asn2770Ile	REJ domain	[36]
336 ^INDET.	23	c.8311G > A	p.Glu2771Lys	REJ domain	[37]
389 ^PKD1	23	c.8311G > A	p.Glu2771Lys	REJ domain	[37]
275 ^ISOL.	23	c.8428G > T	p.Glu2810X	REJ domain	[38]
275 ^ISOL.	23	c.8614delA	p.Ile2872SerfsX3		[39]
482 ^INDET.	IVS23	c.8792-2A > T	Probable splice defect	N/A	Novel
479 ^INDET.	27	c.9416_9417dupACGTGGG	p.Ile3140ArgfsX40	PLAT domain	Novel
430 ^PKD1	28	c.9584G > A	p.Trp3195X	PLAT domain	Novel
391 ^PKD1	29	c.9904G > C9906_9907delTG	p.Val3302LeufsX86	TM domain	Novel
395 ^ISOL.	33	c.10321C > T	p.Gln3441X	Not defined	Novel
413 ^INDET.	IVS36	c.10821 + 4_10821 + 6delAGG	Probable splice defect	N/A	Novel
330 ^INDET.	37	c.10951G > A	p.Gly3651Ser	Not defined	[40]
297 ^PKD1	37	c.10980_10982delAGC	p.Glu3660_Ala3661delinsAsp	Not defined	Novel
385 ^INDET.	39	c.11172G > A	p.Trp3724X	PKD channel domain	Novel
419 ^INDET.	39	c.11248C > G	p.Arg3750Gly	PKD channel domain	Novel
379 ^INDET.	41	c.11482_11484delGAG	p.Glu3828del	PKD channel domain	[40]
420 ^PKD1	43	c.11884 C > T	p.Gln3962X	PKD channel domain	Novel
161 ^INDET.	43	c.11993_11994dup9	p.Leu3998_Leu3999insPheLeuLeu	PKD channel domain	Novel
425 ^INDET.	IVS 43-44	c.12004-15_12015del27	Probable splice defect	N/A	Novel
215 ^PKD1	44	c.12061 C > T	p.Arg4021X	PKD channel domain	[41]
454 ^INDET.	45	c.12439_12441delAAG	p.Lys4147del	Not defined	Novel

cDNA numbering is based on the reference database: Autosomal Dominant Polycystic Kidney Disease Mutation Database (PKDB) (http://pkdb.mayo.edu). Novel probable mutations are in boldface type. ISOL. patients with isolated occurrence of ADPKD in a family; PKD1 patients with proved linkage of ADPKD to the PKD1 gene; INDET. indeterminate patients (the linkage of ADPKD to PKD1 gene has not been proved); IVS – the intronic sequence; Novel mutation was not described in the Autosomal Dominant Polycystic Kidney Disease Mutation Database (PKDB) (http://pkdb.mayo.edu) and/or in the Human Gene Mutation Database (HGMD) (http://www.hgmd.cf.ac.uk). The potential location of mutations has been established on the basis of theoretical model of polycystin-1 by UniProtKB/Swiss-Prot database [P98161]. LRRNT – leucine rich repeat N-terminal domain; REJ – receptor for Egg Jelly; PLAT – Polycystin-1, Lipoxygenase, Alpha-Toxin domain; TM – transmembrane domain. As not defined are called sequences within PKD1 protein with unknown domain structure.