3MDY.A | BMPR1B

General Structure Information

PDB ID	3mdy
HGNC Gene Label(s)	BMPR1B
Structure Name	crystal structure of the cytoplasmic domain of the bone morphogenetic protein receptor type-1b (bmpr1b) in complex with fkbp12 and ldn- 193189
Resolution	2.05Å
Reference	AUTH A.CHAIKUAD,C.SANVITALE,P.MAHAJAN,N.DAGA,C.COOPER,T.KROJER,AUTH 2 I.ALFANO,S.KNAPP,F.VON DELFT,J.WEIGELT,C.H.ARROWSMITH,AUTH 3 A.M.EDWARDS,C.BOUNTRA,A.BULLOCK,AUTH 4 STRUCTURAL GENOMICS CONSORTIUM (SGC)TITL CRYSTAL STRUCTURE OF THE CYTOPLASMIC DOMAIN OF THE BONETITL 2 MORPHOGENETIC PROTEIN RECEPTOR TYPE-1B (BMPR1B) IN COMPLEXTITL 3 WITH FKBP12 AND LDN-193189REF TO BE PUBLISHEDREFN

Variant Set Distributions

ExAC Variants

Number Of Residues	320
Number Of SNVs	76
Number Of Permutations	33869
Optimal Distance Threshold	8.0
K Statistic	0.034
p-value	0.922

ClinVar

Ripley’s K Analysis Plots

ExACClinVar

Variant Set Comparisons

ClinVar vs. ExAC

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
4:96046210	rs143554488	S>P	A:175	(25.14, 16.24, 59.85)
4:96046211	rs367777041	S>C	A:175	(25.14, 16.24, 59.85)
4:96046214		L>P	A:176	(27.98, 13.33, 57.87)
4:96046216		R>G	A:177	(27.30, 12.49, 62.24)
4:96046224		L>F	A:179	(23.45, 11.26, 58.37)
4:96046226	rs148027483	I>T	A:180	(26.58, 8.09, 60.67)
4:96046234	rs141691706	S>P	A:183	(22.01, 4.79, 60.44)
4:96046247	rs200839585	G>A	A:187	(21.33, -1.16, 61.98)
4:96046267	COSM93970	L>V	A:194	(23.84, 0.82, 50.39)
4:96046268		L>P	A:194	(23.84, 0.82, 50.39)
4:96051025		I>V	A:200	(29.36, 9.61, 48.26)
4:96051032	rs185062260	K>R	A:202	(28.30, 11.98, 41.86)
4:96051040		Q>E	A:205	(35.69, 18.73, 46.42)
4:96051055		I>V	A:210	(46.35, 13.27, 53.03)
4:96051068		R>H	A:214	(49.58, -1.40, 52.63)
4:96051074		G>A	A:216	(46.40, 3.29, 48.60)
4:96051076		E>K	A:217	(46.72, 7.40, 46.85)
4:96051091		K>E	A:222	(35.43, 19.17, 50.84)
4:96051097	COSM3696784 COSM3696786 COSM3696785	R>C	A:224	(26.31, 16.60, 52.22)
4:96051098	rs35973133	R>H	A:224	(26.31, 16.60, 52.22)
4:96051106	rs574398307	K>E	A:227	(37.27, 18.44, 55.87)
4:96051107	rs372556235	K>M	A:227	(37.27, 18.44, 55.87)
4:96051109		V>I	A:228	(36.12, 13.26, 54.19)
4:96051129	rs536641256	F>L	A:234	(43.54, 2.20, 40.79)
4:96051142		A>S	A:239	(40.34, -7.40, 47.01)
4:96051154		R>G	A:243	(40.62, -7.70, 52.16)
4:96051161		T>R	A:245	(34.97, -2.30, 53.28)
4:96051164		E>G	A:246	(34.13, -7.05, 54.19)
4:96051165		E>D	A:246	(34.13, -7.05, 54.19)
4:96051173	rs187868598	Q>L	A:249	(30.66, -2.67, 56.66)
4:96051189	rs200198618	R>S	A:254	(31.70, 2.76, 64.77)
4:96051196	rs201034260	N>D	A:257	(40.12, 4.08, 69.73)
4:96052371		I>V	A:262	(31.61, 7.20, 56.19)
4:96052377		A>S	A:264	(31.75, 2.52, 49.87)
4:96052396		G>E	A:270	(37.74, 0.86, 33.55)
4:96052416		L>V	A:277	(37.47, 3.41, 51.97)
4:96052423	rs147336783	T>I	A:279	(37.08, 7.75, 56.39)
4:96052425	rs551370449	D>N	A:280	(36.35, 9.91, 59.91)
4:96052431	rs556937566	H>Y	A:282	(41.24, 12.50, 61.99)
4:96052449		Y>N	A:288	(55.61, 10.28, 60.84)
4:96052455		Y>H	A:290	(50.84, 14.97, 67.41)
4:96052479	rs373000965	A>T	A:298	(52.92, 12.22, 80.62)
4:96052482		K>E	A:299	(48.12, 14.02, 80.41)
4:96052483		K>R	A:299	(48.12, 14.02, 80.41)
4:96052488	rs199613098	M>V	A:301	(52.95, 9.53, 76.94)
4:96052490		M>I	A:301	(52.95, 9.53, 76.94)
4:96052494	rs370428276	K>Q	A:303	(45.51, 10.92, 76.07)
4:96052500		A>T	A:305	(49.08, 4.84, 74.50)
4:96052512		V>I	A:309	(46.03, -0.24, 73.54)
4:96052515		S>G	A:310	(42.14, 0.64, 73.59)
4:96052539		E>Q	A:318	(35.29, -12.88, 70.58)
4:96052546		F>S	A:320	(30.29, -13.93, 72.04)
4:96052566	rs141032424	A>T	A:327	(38.96, -11.86, 66.60)
4:96052578	rs376126706	R>G	A:331	(48.72, -9.10, 59.35)
4:96052605		V>M	A:340	(45.88, 12.10, 66.37)
4:96052611		K>E	A:342	(41.13, 17.56, 68.12)
4:96052621		T>S	A:345	(42.66, 10.50, 71.28)
4:96052657	rs528180688	F>C	A:357	(38.89, -17.09, 64.95)
4:96069924	rs577188671	P>S	A:368	(46.69, -16.25, 55.30)
4:96069927		N>D	A:369	(50.40, -14.66, 52.72)
4:96069928		N>S	A:369	(50.40, -14.66, 52.72)
4:96069930		T>S	A:370	(53.17, -14.83, 56.87)
4:96069931		T>I	A:370	(53.17, -14.83, 56.87)
4:96069948	COSM1735647 COSM4126815 COSM1735648	R>C	A:376	(61.24, 0.03, 60.03)
4:96069987		R>G	A:389	(51.19, -20.24, 58.50)
4:96069991		N>S	A:390	(48.43, -24.11, 62.97)
4:96069997		F>S	A:392	(44.09, -15.58, 65.33)
4:96070001		Q>H	A:393	(46.81, -15.94, 69.56)
4:96070011	rs548452438	M>V	A:397	(51.43, -13.05, 69.65)
4:96070020		M>V	A:400	(51.61, -6.62, 70.95)
4:96070060		R>T	A:413	(58.97, 13.89, 70.91)
4:96070061	rs186299744	R>S	A:413	(58.97, 13.89, 70.91)
4:96073859	rs376221874	M>V	A:440	(64.94, -5.90, 59.43)
4:96073869		I>T	A:443	(69.09, -6.09, 63.20)
4:96073881	rs371436999	K>R	A:447	(72.52, -8.82, 65.61)
4:96073904		N>H	A:455	(70.69, 7.48, 79.14)
4:96073907		R>W	A:456	(65.43, 11.10, 79.07)
4:96075709	rs369609245	Q>R	A:465	(56.89, 2.35, 84.53)
4:96075711		M>L	A:466	(56.77, 3.34, 79.02)
4:96075726		T>A	A:471	(60.92, -4.87, 76.85)
4:96075750		A>S	A:479	(54.49, -16.21, 74.58)
4:96075765	COSM735261 COSM735262	A>S	A:484	(46.56, -5.70, 74.96)
4:96075786		L>V	A:491	(49.09, 2.34, 80.23)
4:96075808		Q>R	A:498	(50.96, 10.37, 87.25)
4:96075814		I>T	A:500	(46.43, 11.16, 84.56)
4:96075817		K>T	A:501	(42.25, 11.18, 83.05)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
4:96051026	rs121434417	I>K	A:200	(29.36, 9.61, 48.26)
4:96075771	rs121434418	R>W	A:486	(48.04, -7.23, 81.69)
4:96075772	rs121434419	R>Q	A:486	(48.04, -7.23, 81.69)

3MDY.A | BMPR1B.

3MDY.A | BMPR1B

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants