3NAF.A | KCNMA1

General Structure Information

PDB ID	3naf
HGNC Gene Label(s)	KCNMA1
Structure Name	structure of the intracellular gating ring from the human high- conductance ca2+ gated k+ channel (bk channel)
Resolution	3.1Å
Reference	AUTH Y.WU,Y.YANG,S.YE,Y.JIANGTITL STRUCTURE OF THE GATING RING FROM THE HUMANTITL 2 LARGE-CONDUCTANCE CA(2+)-GATED K(+) CHANNEL.REF NATURE V. 466 393 2010REFN ISSN 0028-0836PMID 20574420DOI 10.1038/NATURE09252

Variant Set Distributions

ExAC Variants

Number Of Residues	648
Number Of SNVs	66
Number Of Permutations	13402
Optimal Distance Threshold	24.0
K Statistic	0.25
p-value	0.701

COSMIC

Number Of Residues	648
Number Of SNVs	9
Number Of Permutations	3778
Optimal Distance Threshold	5.0
K Statistic	0.028
p-value	0.8

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	66
Number Of COSMIC SNVs	8
Optimal Distance Threshold	16.0
K Statistic	-0.068
p-value	0.634

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
10:78850186		V>I	A:371	(-49.83, 28.33, 61.75)
10:78846311		H>N	A:394	(-51.02, 42.30, 58.90)
10:78846296		E>K	A:399	(-60.65, 39.43, 57.90)
10:78846286		Q>L	A:402	(-68.50, 47.79, 62.19)
10:78844432	rs202213336	A>T	A:431	(-61.28, 53.78, 85.22)
10:78844419	COSM920639 COSM1585101 COSM920640	A>V	A:435	(-66.60, 47.42, 85.02)
10:78844411		A>T	A:438	(-68.25, 43.17, 83.60)
10:78839298		I>V	A:447	(-69.81, 33.94, 73.31)
10:78839268		I>V	A:457	(-58.59, 33.30, 76.14)
10:78832991		P>L	A:473	(-71.91, 26.49, 83.32)
10:78832972	rs143385319	E>D	A:479	(-62.90, 22.06, 76.47)
10:78799350	rs140520584	N>D	A:534	(-34.41, 29.10, 75.26)
10:78799323		S>G	A:543	(-42.34, 4.40, 79.60)
10:78799314	rs200668674	V>M	A:546	(-42.23, 4.81, 84.50)
10:78799307		L>Q	A:548	(-37.72, 7.07, 87.74)
10:78799296	rs199572642	T>A	A:552	(-33.27, 10.35, 88.42)
10:78787612		I>L	A:568	(-44.07, 17.08, 86.63)
10:78787590	rs80266334	R>Q	A:575	(-61.55, 13.05, 88.85)
10:78778834	rs200013065	H>L	A:586	(-40.44, 12.64, 97.06)
10:78771796		F>Y	A:609	(-43.20, 10.77, 73.41)
10:78729747	rs145067821	S>L	A:659	(-65.90, 21.21, 90.80)
10:78729742		K>E	A:661	(-61.09, 20.05, 87.43)
10:78713676		D>E	A:666	(-56.69, 20.81, 100.36)
10:78713678	rs200641613	D>N	A:666	(-56.69, 20.81, 100.36)
10:78713619		K>N	A:685	(-48.04, 30.52, 112.75)
10:78713620		K>T	A:685	(-48.04, 30.52, 112.75)
10:78713582		K>E	A:698	(-52.66, 44.11, 111.84)
10:78713562		I>M	A:704	(-49.27, 54.66, 109.97)
10:78713563		I>T	A:704	(-49.27, 54.66, 109.97)
10:78709120		R>Q	A:707	(-40.66, 62.01, 107.07)
10:78709118		S>G	A:708	(-39.99, 60.77, 112.25)
10:78709109	rs199831342	A>T	A:711	(-35.89, 57.63, 110.99)
10:78709100		V>I	A:714	(-33.07, 50.61, 111.12)
10:78709082		V>M	A:720	(-39.45, 49.76, 99.03)
10:78709064	rs368732871 COSM1702665 COSM3440774 COSM3440776 COSM3440775 COSM1702664 COSM1702666	D>N	A:726	(-55.55, 59.16, 93.95)
10:78709061	rs142770262	V>I	A:727	(-58.46, 59.49, 96.61)
10:78709046		I>V	A:732	(-52.85, 48.34, 91.74)
10:78709036	COSM1211592 COSM4016054 COSM4016056 COSM4016055 COSM4016053 COSM1211593	R>Q	A:735	(-54.64, 40.12, 97.85)
10:78708994		H>R	A:749	(-36.98, 33.19, 109.41)
10:78708980	rs199819956	I>V	A:754	(-43.82, 45.22, 102.66)
10:78708964		S>C	A:759	(-51.27, 57.98, 99.58)
10:78708949		K>R	A:764	(-56.91, 53.97, 103.90)
10:78708934	rs200440843 COSM245163 COSM3355939 COSM3355941 COSM3355940 COSM1965764 COSM245164	T>M	A:769	(-56.59, 43.26, 100.97)
10:78708908		I>L	A:778	(-48.02, 52.37, 105.39)
10:78708902	rs145897652	P>S	A:780	(-47.31, 58.41, 104.74)
10:78704719	rs201192736 COSM3807780 COSM196765 COSM3807782 COSM3807784 COSM3807783 COSM3807779 COSM3807781	T>M	A:782	(-44.45, 60.89, 97.61)
10:78704702		D>N	A:788	(-40.38, 59.80, 102.70)
10:78704663	COSM3738735 COSM3738737 COSM3738739 COSM3738738 COSM3738734 COSM3738736	V>I	A:801	(-41.42, 48.41, 93.64)
10:78704635	rs563447007	I>T	A:810	(-56.82, 57.21, 78.39)
10:78704627	rs201167566	T>A	A:813	(-49.58, 56.14, 75.01)
10:78704596	rs201694465	A>V	A:823	(-38.50, 58.11, 90.37)
10:78669753	rs201534741	V>I	A:917	(-47.82, 45.49, 80.75)
10:78651443	COSM3686870 COSM3686872 COSM3686874 COSM3686873 COSM3686869 COSM3686871	R>Q	A:938	(-51.81, 30.81, 87.77)
10:78651444		R>W	A:938	(-51.81, 30.81, 87.77)
10:78651384		A>T	A:958	(-59.85, 37.03, 102.07)
10:78651362		T>N	A:965	(-53.43, 20.96, 109.87)
10:78651360		P>T	A:966	(-51.47, 17.74, 109.77)
10:78651329	COSM4016009 COSM4016011 COSM4016013 COSM4016012 COSM4016008 COSM4016010	R>H	A:976	(-37.56, 28.27, 97.72)
10:78651327		V>M	A:977	(-37.56, 31.41, 93.45)
10:78651320		Q>R	A:979	(-30.37, 34.89, 93.08)
10:78649327		D>N	A:992	(-12.43, 29.28, 89.73)
10:78649317		C>Y	A:995	(-18.77, 23.24, 83.79)
10:78649240		H>Y	A:1021	(-16.83, 40.16, 78.95)
10:78647266		I>V	A:1034	(-27.57, 33.65, 81.19)
10:78647262		T>N	A:1035	(-31.66, 31.18, 80.24)
10:78647242	COSM1349210 COSM1349211	E>Q	A:1042	(-16.37, 28.72, 81.54)
10:78647236	rs376264061 COSM333512 COSM1648749 COSM333513	V>M	A:1044	(-17.41, 33.38, 86.93)
10:78647229	rs200284976	T>M	A:1046	(-18.80, 37.17, 90.04)
10:78647196		H>R	A:1057	(-37.20, 21.46, 107.68)
10:78647193		N>S	A:1058	(-33.92, 25.89, 108.77)

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
10:78850252	COSM3383045	G>R	A:349	(-62.89, 44.04, 72.93)
10:78846313	COSM1724066	R>Q	A:393	(-48.50, 45.39, 57.69)
10:78839293	COSM4785452	K>N	A:448	(-70.14, 30.20, 76.11)
10:78832870	COSM1349220	M>I	A:513	(-42.20, 34.94, 69.83)
10:78799378	COSM1675378	W>C	A:524	(-24.80, 43.14, 77.23)
10:78713594	COSM3686879	W>R	A:694	(-53.83, 34.79, 109.20)
10:78709064	COSM1702665	D>N	A:726	(-55.55, 59.16, 93.95)
10:78709057	COSM4538452	S>N	A:728	(-59.66, 58.91, 93.03)
10:78709036	COSM4016055	R>Q	A:735	(-54.64, 40.12, 97.85)
10:78708934	COSM3355939	T>M	A:769	(-56.59, 43.26, 100.97)
10:78704719	COSM3807779	T>K	A:782	(-44.45, 60.89, 97.61)
10:78704708	COSM3770691	R>W	A:786	(-34.15, 62.66, 97.72)
10:78669819	COSM3358874	D>N	A:895	(-22.48, 53.38, 75.52)
10:78651443	COSM3686870	R>Q	A:938	(-51.81, 30.81, 87.77)
10:78647256	COSM4694536	P>L	A:1037	(-26.90, 27.29, 80.32)
10:78647236	COSM4878773	V>M	A:1044	(-17.41, 33.38, 86.93)

3NAF.A | KCNMA1.

3NAF.A | KCNMA1

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Pathogenic Proximity Analysis

Mapped Variants

[+] ExAC Missense Variants

[+] COSMIC Missense Variants