1S1N.A | NPHP1

PDB ID	1s1n
HGNC Gene Label(s)	NPHP1
Structure Name	sh3 domain of human nephrocystin
Resolution	-1.0Å
Reference	AUTH A.LE MAIRE,T.WEBER,S.SAUNIER,I.BROUTIN,C.ANTIGNAC,AUTH 2 A.DUCRUIX,F.DARDELTITL SOLUTION NMR STRUCTURE OF THE SH3 DOMAIN OF HUMANTITL 2 NEPHROCYSTIN AND ANALYSIS OF A MUTATION-CAUSINGTITL 3 JUVENILE NEPHRONOPHTHISIS.REF PROTEINS V. 59 347 2005REFN ISSN 0887-3585PMID 15723349DOI 10.1002/PROT.20344

ExAC Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
2:110927448		T>A	A:153	(-1.66, -0.50, -4.83)
2:110927445	COSM4084164	G>S	A:154	(1.41, 2.42, -3.55)
2:110927433		I>V	A:158	(1.45, 16.52, -4.58)
2:110927427		V>I	A:160	(5.35, 19.65, -7.63)
2:110927412	rs377676279	A>T	A:165	(2.74, 11.99, -22.17)
2:110927395	rs201150109	D>E	A:170	(4.73, 8.64, -19.75)
2:110927390		T>I	A:172	(-0.72, 14.36, -18.89)
2:110927383		K>N	A:174	(-2.77, 20.01, -12.97)
2:110926124		E>K	A:177	(-1.96, 16.72, -9.75)
2:110926108		I>T	A:182	(2.57, 1.62, -8.35)
2:110926103		K>Q	A:184	(11.63, 2.09, -5.16)
2:110926093		D>G	A:187	(15.65, 5.20, -15.05)
2:110926073		D>N	A:194	(-4.14, 9.44, -12.27)
2:110926066	rs193081678	K>R	A:196	(-8.79, 9.11, -16.13)
2:110926054	rs373951297	G>D	A:200	(2.05, 5.80, -15.63)
2:110926052		L>F	A:201	(6.39, 5.67, -17.03)
2:110926046		P>A	A:203	(9.18, 11.81, -12.68)
2:110926036		Y>F	A:206	(10.33, 17.44, -11.09)
2:110926034	rs144088139	L>V	A:207	(6.30, 13.11, -7.40)
2:110922726	rs566201874	S>G	A:211	(-1.19, 15.42, 3.89)

1S1N.A | NPHP1.