3KM0.A | HSD17B1

General Structure Information

PDB ID	3km0
HGNC Gene Label(s)	HSD17B1
Structure Name	17betahsd1 in complex with 3beta-diol
Resolution	2.3Å
Reference	AUTH M.MAZUMDAR,J.CHEN,S.-X.LINTITL MOLECULAR BASIS OF SEX-STEROID TRANSLATIONREF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	278
Number Of SNVs	99
Number Of Permutations	17399
Optimal Distance Threshold	20.0
K Statistic	0.354
p-value	0.316

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
17:40704958	rs61743701	R>C	A:2	(-15.93, -1.25, -33.97)
17:40704961		T>A	A:3	(-11.39, -3.80, -31.77)
17:40704976		T>P	A:8	(2.20, 5.71, -33.80)
17:40704983		C>S	A:10	(0.49, 6.05, -39.93)
17:40704995	rs553802651	I>T	A:14	(5.07, -0.75, -40.42)
17:40704997		G>S	A:15	(1.66, 1.74, -40.00)
17:40705010	rs201200226	A>V	A:19	(-3.83, 0.70, -40.81)
17:40705013	rs202205173	V>A	A:20	(-4.70, -0.16, -44.26)
17:40705016		R>P	A:21	(-4.82, -6.10, -42.66)
17:40705044		F>L	A:30	(-10.16, -4.34, -36.34)
17:40705048		V>M	A:32	(-8.23, 2.31, -36.90)
17:40705190		A>V	A:48	(-4.36, 2.73, -49.45)
17:40705196	rs149929344	R>Q	A:50	(-10.20, 5.74, -52.64)
17:40705201		L>V	A:52	(-7.61, -1.89, -49.29)
17:40705223		L>Q	A:59	(-9.54, 4.89, -40.82)
17:40705229	rs61738799	T>M	A:61	(-6.66, 10.75, -39.15)
17:40705232		L>S	A:62	(-5.72, 11.58, -35.01)
17:40705243		V>I	A:66	(5.92, 11.27, -29.71)
17:40705249		D>N	A:68	(3.98, 16.91, -27.33)
17:40705256		K>T	A:70	(0.30, 19.55, -24.93)
17:40705271		A>V	A:75	(-5.50, 12.05, -29.17)
17:40705280		R>L	A:78	(-9.72, 14.19, -31.15)
17:40705282		V>L	A:79	(-10.99, 8.36, -28.49)
17:40705291		G>S	A:82	(-13.23, 5.98, -24.42)
17:40705295		R>H	A:83	(-12.99, 1.41, -25.83)
17:40705303		V>L	A:86	(-4.98, -2.10, -29.57)
17:40705462		N>D	A:90	(5.27, 2.54, -35.02)
17:40705465	rs374810645	A>T	A:91	(7.17, 5.76, -33.95)
17:40705483		G>W	A:97	(27.54, 6.22, -37.47)
17:40705502		G>E	A:103	(25.13, 14.42, -32.90)
17:40705514		V>A	A:107	(21.71, 11.54, -29.74)
17:40705523		V>G	A:110	(16.97, 8.96, -31.45)
17:40705526	rs201386548	L>P	A:111	(16.90, 8.80, -26.91)
17:40705531		V>M	A:113	(11.18, 9.70, -30.90)
17:40705537	rs547184186	V>L	A:115	(12.57, 5.80, -25.34)
17:40705541	rs146469083	V>A	A:116	(10.57, 9.27, -24.13)
17:40705553		R>Q	A:120	(6.06, 11.04, -24.03)
17:40705555		M>V	A:121	(1.69, 6.71, -25.69)
17:40705576	rs148322159	D>N	A:128	(-8.27, 3.15, -19.07)
17:40705579		M>V	A:129	(-5.48, -0.43, -20.63)
17:40705586	rs140523133	R>K	A:131	(-8.51, 1.93, -14.26)
17:40705592		G>D	A:133	(-8.59, -5.19, -17.54)
17:40705601	COSM1210029	R>P	A:136	(-3.81, -7.43, -26.60)
17:40705607	COSM4066580	L>W	A:138	(1.38, -4.04, -30.02)
17:40705615		G>R	A:141	(11.01, -3.50, -33.11)
17:40705621		V>M	A:143	(17.25, -7.03, -34.70)
17:40705624		G>R	A:144	(18.80, -3.77, -32.63)
17:40705625	rs138290026	G>A	A:144	(18.80, -3.77, -32.63)
17:40705636		G>R	A:148	(24.80, -5.28, -31.66)
17:40705823		N>D	A:152	(23.83, 1.36, -35.72)
17:40705824		N>S	A:152	(23.83, 1.36, -35.72)
17:40705835		C>G	A:156	(21.06, 0.04, -30.68)
17:40705850	rs149630844	A>T	A:161	(15.60, 0.61, -24.08)
17:40705860	rs146159533	G>V	A:164	(13.39, -2.89, -21.13)
17:40705868	rs377503215	E>Q	A:167	(11.27, -7.48, -20.08)
17:40705871		S>G	A:168	(9.77, -4.14, -16.95)
17:40705877	rs188862602	A>T	A:170	(5.32, -7.11, -18.55)
17:40705890		L>R	A:174	(0.76, -10.93, -15.84)
17:40705896	COSM1737353	F>C	A:176	(-2.57, -5.13, -13.85)
17:40705905		H>L	A:179	(-1.61, -9.09, -22.66)
17:40706429	rs548318304	S>R	A:181	(4.09, -7.16, -27.35)
17:40706433		I>F	A:183	(6.69, -6.94, -33.28)
17:40706437		E>A	A:184	(11.41, -8.09, -32.78)
17:40706449	rs200202791	V>A	A:188	(11.48, -3.23, -43.76)
17:40706455	rs138503851	T>I	A:190	(9.29, 0.78, -48.31)
17:40706491		E>V	A:202	(30.14, 15.68, -44.04)
17:40706509		D>G	A:208	(39.65, 7.45, -38.08)
17:40706526	rs570540113	R>S	A:214	(36.73, -0.82, -40.68)
17:40706529		F>V	A:215	(30.37, 3.72, -42.26)
17:40706545		A>G	A:220	(28.38, -2.69, -48.32)
17:40706551	rs146195480	S>N	A:222	(23.89, -3.07, -45.24)
17:40706566	rs148429229	R>H	A:227	(20.33, -5.96, -52.45)
17:40706574		A>T	A:230	(13.82, -7.31, -46.97)
17:40706578	COSM472819	Q>R	A:231	(10.47, -8.43, -44.47)
17:40706584	rs546550742	P>L	A:233	(5.44, -3.71, -45.38)
17:40706596	rs147402365	A>V	A:237	(1.66, -6.33, -40.41)
17:40706598		E>K	A:238	(-0.38, -10.22, -41.28)
17:40706692	rs199520196	F>L	A:240	(2.10, -5.95, -35.66)
17:40706693		L>F	A:241	(-2.88, -9.13, -37.22)
17:40706705		R>C	A:245	(-5.15, -13.42, -34.61)
17:40706709		A>V	A:246	(-3.58, -14.33, -29.20)
17:40706711		P>S	A:247	(-5.34, -16.21, -26.81)
17:40706724	COSM1235791	L>Q	A:251	(7.25, -10.02, -24.43)
17:40706730	rs201280974	Y>S	A:253	(5.29, -12.19, -31.46)
17:40706732	rs201464695	F>I	A:254	(10.64, -13.11, -33.21)
17:40706736		T>S	A:255	(9.27, -10.90, -38.58)
17:40706744		R>C	A:258	(17.38, -14.63, -42.21)
17:40706754	rs139801815	P>L	A:261	(21.48, -17.53, -35.65)
17:40706763		R>Q	A:264	(19.33, -18.86, -30.14)
17:40706766		M>R	A:265	(26.04, -16.76, -30.85)
17:40706769	rs139578066	R>L	A:266	(23.63, -11.60, -27.19)
17:40706785		S>R	A:271	(30.73, -12.64, -22.25)
17:40706790	rs563264638	S>F	A:273	(33.00, -13.27, -26.98)
17:40706793		N>S	A:274	(31.14, -15.97, -29.05)
17:40706798		V>I	A:276	(31.95, -9.53, -30.73)
17:40706802	rs144487991	T>S	A:277	(33.97, -12.64, -33.02)
17:40706804		A>T	A:278	(30.57, -13.31, -35.23)
17:40706805		A>V	A:278	(30.57, -13.31, -35.23)
17:40706808		M>T	A:279	(28.63, -9.15, -36.07)
17:40706812		H>Q	A:280	(34.16, -8.26, -37.05)
17:40706814	rs530665923	R>Q	A:281	(31.59, -13.23, -39.26)
17:40706820		V>A	A:283	(30.04, -7.01, -40.98)