. Author manuscript; available in PMC: 2013 Oct 1.

Published in final edited form as: Int J Biochem Cell Biol. 2012 Jun 15;44(10):1632–1645. doi: 10.1016/j.biocel.2012.06.006

Table 3.

CryAB mutations and phenotypes

Mutations	Protein change	Tissue/Organ affected			Reference
		EYE	MUSCLE

		lens	Skeletal	Cardiac
1) 358(cDNA) AtoG	p.Arg120Gly	Yes	Yes	Yes	Vicart et al. (1998)
Autosomal Dominant	R120G				Vicart et al. (1998)
2) 350 (cDNA) GtoC	p.Asp109Hist	Yes	Yes	Yes	Sacconi et al. (2012)
Autosomal Dominant	D109H				Sacconi et al. (2012)
3) n. 495G>A	p.Arg157His	No	No	Yes	Inagaki et al. (2006)
Autosomal Dominant					Inagaki et al. (2006)
4) n.460G>A	p.Gly154Ser	No	No (subclin)	Yes	Pilotto et al. (2006)
Autosomal Dominant					Pilotto et al. (2006)
5) n.460G>A	p.Gly154Ser	No	Yes (late onset)	No	Reilich et al. (2010)
Autosomal Dom.					Reilich et al. (2010)
6) 2bp deletion 464delCT	C-term truncated protein 162	No	Yes	No	Selcen and Engel (2003)
Autosomal Dominant	AA (18.8kDa)				Selcen and Engel (2003)
7) n.451C>T	C-term truncated protein	No	Yes	No	Selcen and Engel (2003)
Autosomal Dominant	150AA (17.5kDa) - Q151X				Selcen and Engel (2003)
8) 450delA	Codon frameshift	Yes	No	No	Berry et al. (2001)
Autosomal Dominant	Aberrant protein 184 AA
	K150fs_184X
9) c60C deletion	pSer21AlafsX24	No	Yes	No	Del Bigio et al. (2011)
Cdel60C	Ser 60Ala
Autosomal Recessive	Part exon 1- missense aa: Aberrant protein 44 AA
10) c.343delT	p.Ser115ProfsX14	No	Yes	No	Forrest et al. (2011)
Autosomal Recessive	Truncated protein 127 AA				Forrest et al. (2011)
11) n.58C>T	p.P20S	Yes	No	No	Liu et al. (2006a)
Autosomal Recessive					Liu et al. (2006a)
12) n.443 G>A	p.D140N	Yes	No	No	Liu et al. (2006b)
Autosomal Dominant					Liu et al. (2006b)
13) c.557G>A	p.A171T	Yes	No	No	Devi et al. (2008)
Autosomal Dominant					Devi et al. (2008)
14) c.166C>T	p.R56W	Yes	No	No	Safieh et al. (2009)
Autosomal Recessive					Safieh et al. (2009)
15) c.32G>A	p.R11H	Yes	No	No	Chen at al. (2009)
Autosomal Dominant					Chen at al. (2009)