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. Author manuscript; available in PMC: 2014 Sep 19.

Published in final edited form as: Am J Med Genet A. 2010 May;0(5):1169–1177. doi: 10.1002/ajmg.a.33392

TABLE I.

Metatropic Dysplasia Cases and Mutations

Patient	Clinical severity	TRPV4 exon	Nucleotide substitution	Predicted amino acid change	Protein domain
R94-316	Lethal, neonatal	2	c.C366 >T	p.T89I	Cytoplasmic (NH2 end)
R99-441	Lethal, infantile	4	c.A590 >G	p.K197R	ANK2, vanilloid receptor
R00-067^a	Severe	6	c.A991 >T	p.I331F	ANK5
R97-288	Mild	6	c.999_1010del	p.D333_E337delinsE	ANK5
R94-199	Lethal, infantile	8	c.1412_1414del	p.F471del	TM1
R08-023	Lethal, neonatal	11	c.C1812 >G	p.I604M	Cytoplasmic (TM4–TM5)
R08-325	Mild	12	c.C1851 >A	p.F617L	TM5
R09-035	Lethal, neonatal	12	c.T1853 >C	p.L618P	TM5
R01-187	Mild	15	c.G2389 >A	p.E797K	Cytoplasmic (COOH end)
R91-149	Moderate	15	c.C2396 >T	p.P799L	Cytoplasmic (COOH end)
R08-078	Moderate	15	c.C2396 >T	p.P799L	Cytoplasmic (COOH end)
R03-386^a	Moderate	15	c.C2396 >T	p.P799L	Cytoplasmic (COOH end)

^a

Previously published [Krakow et al., 2009].