1UMK.A | CYB5R3

General Structure Information

PDB ID	1umk
HGNC Gene Label(s)	CYB5R3
Structure Name	the structure of human erythrocyte nadh-cytochrome b5 reductase
Resolution	1.75Å
Reference	AUTH S.BANDO,T.TAKANO,T.YUBISUI,K.SHIRABE,M.TAKESHITA,AUTH 2 A.NAKAGAWATITL STRUCTURE OF HUMAN ERYTHROCYTE NADH-CYTOCHROME B5TITL 2 REDUCTASE.REF ACTA CRYSTALLOGR.,SECT.D V. 60 1929 2004REFN ISSN 0907-4449PMID 15502298DOI 10.1107/S0907444904020645

Variant Set Distributions

ExAC Variants

Number Of Residues	271
Number Of SNVs	83
Number Of Permutations	26544
Optimal Distance Threshold	16.0
K Statistic	0.188
p-value	0.246

ClinVar

Number Of Residues	271
Number Of SNVs	8
Number Of Permutations	2612
Optimal Distance Threshold	9.0
K Statistic	0.0
p-value	0.668

COSMIC

Number Of Residues	271
Number Of SNVs	3
Number Of Permutations	27
Optimal Distance Threshold	12.0
K Statistic	0.333
p-value	0.572

Ripley’s K Analysis Plots

ExACClinVarCOSMIC

Variant Set Comparisons

ClinVar vs. ExAC

Number Of ExAC SNVs	83
Number Of ClinVar SNVs	8
Optimal Distance Threshold	9.0
K Statistic	-0.045
p-value	0.724

Cosmic vs. ExAC

Number Of ExAC SNVs	83
Number Of COSMIC SNVs	3
Optimal Distance Threshold	12.0
K Statistic	0.238
p-value	0.862

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
22:43032776		A>V	A:32	(36.06, 36.49, -13.84)
22:43032765	rs535941974	E>K	A:36	(42.43, 33.83, -18.48)
22:43032761		S>I	A:37	(47.44, 32.88, -19.46)
22:43032756		D>N	A:39	(52.09, 32.73, -21.60)
22:43032753	rs373496120	I>V	A:40	(48.63, 36.47, -21.73)
22:43032744		P>S	A:43	(46.71, 45.47, -20.26)
22:43032737		R>Q	A:45	(43.12, 52.26, -17.64)
22:43032738		R>W	A:45	(43.12, 52.26, -17.64)
22:43032735		L>I	A:46	(46.40, 53.87, -12.73)
22:43032725	rs200877999 CM010208	R>Q	A:49	(49.44, 58.34, -6.83)
22:43032726	rs532483517	R>W	A:49	(49.44, 58.34, -6.83)
22:43027450		S>G	A:53	(55.46, 57.56, 2.22)
22:43027437	rs121965007	R>Q	A:57	(53.80, 56.17, -3.40)
22:43027428		R>P	A:60	(42.83, 50.60, -6.56)
22:43027420		L>V	A:63	(40.53, 44.17, -12.93)
22:43027416	rs149268873	P>L	A:64	(39.00, 43.52, -16.92)
22:43026986	rs145994046	I>V	A:78	(52.32, 39.82, -10.28)
22:43026976	rs142587038	S>L	A:81	(55.98, 44.68, -17.82)
22:43026977		S>A	A:81	(55.98, 44.68, -17.82)
22:43026970		R>Q	A:83	(59.48, 47.92, -23.49)
22:43026931		I>T	A:96	(47.49, 44.81, -0.66)
22:43026923	rs536045979	D>N	A:99	(41.12, 36.34, -5.41)
22:43026915		D>E	A:101	(39.11, 42.05, -3.81)
22:43026917		D>N	A:101	(39.11, 42.05, -3.81)
22:43026913		K>T	A:102	(35.30, 41.47, -6.70)
22:43026908	rs201683596	F>V	A:104	(40.17, 46.15, -6.64)
22:43026905	rs121965009	V>M	A:105	(44.76, 45.32, -8.24)
22:43024287	rs371710254 COSM479028 COSM1136876	V>I	A:111	(59.87, 54.87, -5.25)
22:43024272		T>A	A:116	(68.93, 60.05, -4.08)
22:43024269		H>Y	A:117	(72.49, 56.02, -3.63)
22:43024261		K>N	A:119	(77.26, 53.75, -5.51)
22:43024250		G>E	A:123	(67.52, 54.42, -10.00)
22:43024251		G>R	A:123	(67.52, 54.42, -10.00)
22:43024247		G>E	A:124	(64.62, 52.71, -10.30)
22:43024242		M>V	A:126	(59.28, 49.20, -12.75)
22:43024239	rs121965006	S>P	A:127	(59.73, 52.26, -9.21)
22:43024227		E>K	A:131	(56.00, 57.85, -9.24)
22:43024223		S>N	A:132	(55.37, 58.29, -14.06)
22:43024224	rs148295843	S>G	A:132	(55.37, 58.29, -14.06)
22:43024214	rs200716700	I>T	A:135	(44.65, 58.76, -14.30)
22:43024215		I>V	A:135	(44.65, 58.76, -14.30)
22:43024202		I>T	A:139	(51.33, 48.36, -16.36)
22:43024193	rs370695594 COSM295132	R>Q	A:142	(53.56, 37.03, -17.36)
22:43024194		R>W	A:142	(53.56, 37.03, -17.36)
22:43024190		G>V	A:143	(50.50, 35.24, -14.27)
22:43024187	rs374075200 CM010210	P>L	A:144	(50.42, 33.07, -11.74)
22:43024188		P>A	A:144	(50.42, 33.07, -11.74)
22:43024185		S>G	A:145	(54.47, 33.61, -10.45)
22:43024175	rs121965008	L>P	A:148	(55.02, 29.04, -2.25)
22:43024173		V>I	A:149	(51.12, 27.50, -3.12)
22:43023686	rs75478217	A>T	A:157	(53.24, 23.89, -2.14)
22:43023679	rs147079106	R>Q	A:159	(56.72, 23.61, -7.83)
22:43023677		P>A	A:160	(62.04, 22.57, -6.52)
22:43023656	COSM4104577 COSM4104576	I>V	A:167	(57.36, 19.04, -1.96)
22:43023644		V>M	A:171	(53.31, 23.46, 9.05)
22:43023622	rs201232518 COSM3694099 COSM3694098 CM980558	A>V	A:178	(60.76, 41.05, 6.54)
22:43023623	rs530251354 CM010211	A>T	A:178	(60.76, 41.05, 6.54)
22:43023613		T>I	A:181	(58.65, 45.67, 0.10)
22:43023393		I>V	A:183	(55.47, 42.86, 4.30)
22:43023389		T>N	A:184	(53.77, 42.02, 0.47)
22:43023386		P>L	A:185	(54.81, 38.34, 0.54)
22:43023381		L>V	A:187	(50.06, 40.62, 4.65)
22:43023368	rs200581263	R>H	A:191	(45.55, 39.79, 5.02)
22:43023369	rs543277216	R>C	A:191	(45.55, 39.79, 5.02)
22:43023366		A>T	A:192	(44.90, 33.53, 4.56)
22:43023359		M>T	A:194	(44.42, 34.81, 10.27)
22:43023360		M>V	A:194	(44.42, 34.81, 10.27)
22:43023356		K>T	A:195	(40.52, 34.69, 5.58)
22:43023352		D>E	A:196	(40.47, 29.82, 8.03)
22:43023332	rs121965015	C>Y	A:203	(52.28, 33.34, 12.15)
22:43023333	rs121965011	C>R	A:203	(52.28, 33.34, 12.15)
22:43019891	rs61745147	E>K	A:212	(58.73, 54.58, 13.19)
22:43019847		N>K	A:226	(45.22, 43.35, 18.25)
22:43019843	rs565915928	H>Y	A:228	(43.71, 36.98, 14.70)
22:43019833	rs547268043 COSM3061922 COSM3061921	R>H	A:231	(45.79, 32.42, 14.33)
22:43019818	rs139852099	Y>C	A:236	(57.72, 45.88, 14.50)
22:43019815		T>M	A:237	(63.95, 45.80, 13.67)
22:43019809	rs121965018	D>G	A:239	(68.25, 50.18, 10.70)
22:43019798		E>K	A:243	(64.02, 59.03, 22.06)
22:43015940		G>S	A:248	(64.15, 46.73, 17.76)
22:43015933		G>V	A:250	(69.15, 46.89, 14.09)
22:43015928	rs144071404	V>M	A:252	(68.23, 40.77, 11.65)
22:43015919		E>K	A:255	(68.71, 37.30, 20.51)
22:43015909		R>Q	A:258	(67.41, 31.68, 19.43)
22:43015910	rs139299188	R>W	A:258	(67.41, 31.68, 19.43)
22:43015901		L>V	A:261	(61.15, 33.03, 14.46)
22:43015898		P>A	A:262	(59.42, 29.51, 15.32)
22:43015891		P>L	A:264	(63.87, 24.50, 15.42)
22:43015889		E>Q	A:265	(62.24, 22.28, 18.26)
22:43015880	rs373688908	P>S	A:268	(59.25, 25.49, 11.38)
22:43015856		P>S	A:276	(69.31, 40.30, -1.62)
22:43015843		Q>R	A:280	(74.12, 36.78, 1.83)
22:43015817		H>D	A:289	(74.27, 30.25, 14.16)
22:43015806	rs144568303	H>Q	A:292	(65.61, 27.11, 11.66)
22:43015801		T>M	A:294	(68.09, 24.80, 4.18)
22:43015795	rs76458556	R>H	A:296	(62.46, 22.30, 7.80)
22:43015787	rs61743746	V>I	A:299	(63.56, 32.92, -0.54)

1UMK.A | CYB5R3.

1UMK.A | CYB5R3

General Structure Information

Variant Set Distributions

Ripley’s K Analysis Plots

Variant Set Comparisons

Mapped Variants

[+] ExAC Missense Variants

[+] ClinVar Missense Variants

[+] COSMIC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
22:43032743	COSM1308235	P>L	A:43	(46.71, 45.47, -20.26)
22:43024271	COSM4984917	T>S	A:116	(68.93, 60.05, -4.08)
22:43024193	COSM295132	R>Q	A:142	(53.56, 37.03, -17.36)
22:43023622	COSM3694098	A>V	A:178	(60.76, 41.05, 6.54)