3KQ4.E | GIF – ASTRID

3KQ4.E | GIF

General Structure Information

PDB ID	3kq4
HGNC Gene Label(s)	GIF
Structure Name	structure of intrinsic factor-cobalamin bound to its receptor cubilin
Resolution	3.3Å
Reference	AUTH C.B.ANDERSEN,M.MADSEN,T.STORM,S.K.MOESTRUP,G.R.ANDERSENTITL STRUCTURAL BASIS FOR RECEPTOR RECOGNITION OFTITL 2 VITAMIN-B(12)-INTRINSIC FACTOR COMPLEXES.REF NATURE V. 464 445 2010REFN ISSN 0028-0836PMID 20237569DOI 10.1038/NATURE08874

Variant Set Distributions

ExAC Variants

Number Of Residues	385
Number Of SNVs	110
Number Of Permutations	50822
Optimal Distance Threshold	15.0
K Statistic	0.12
p-value	0.165

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:59611526	rs139090732	V>I	E:28	(-74.89, -17.46, -82.93)
11:59611511		E>K	E:33	(-70.88, -19.54, -86.08)
11:59611504	rs199656794	L>S	E:35	(-73.64, -16.63, -92.08)
11:59611502		V>I	E:36	(-70.58, -14.52, -88.96)
11:59611495	rs191614675	G>V	E:38	(-67.98, -13.74, -93.44)
11:59611484	rs149030651	L>F	E:42	(-67.00, -8.68, -96.65)
11:59611454	rs144916324	Y>N	E:52	(-62.74, 7.11, -94.29)
11:59611451		P>S	E:53	(-59.70, 5.56, -92.25)
11:59611438		I>T	E:57	(-63.83, -1.52, -89.00)
11:59611423		N>S	E:62	(-59.73, -5.64, -82.55)
11:59611417		A>V	E:64	(-63.90, -10.36, -83.25)
11:59611415	rs11825834	G>R	E:65	(-61.00, -11.22, -84.28)
11:59611408		Y>C	E:67	(-60.23, -13.63, -89.50)
11:59611406	rs200346359	N>D	E:68	(-56.23, -9.42, -92.45)
11:59611390	rs139444835	K>R	E:73	(-49.85, -3.65, -89.24)
11:59611388	rs577341460	L>F	E:74	(-53.02, -0.76, -92.69)
11:59611364		S>G	E:82	(-54.61, 10.86, -87.31)
11:59611361	rs115964827	D>N	E:83	(-54.77, 15.58, -87.72)
11:59611358		N>D	E:84	(-55.89, 15.36, -83.56)
11:59611352		D>N	E:86	(-59.02, 16.63, -89.18)
11:59610605	rs180950604	I>T	E:89	(-66.39, 14.96, -80.39)
11:59610603		G>R	E:90	(-66.47, 11.33, -82.42)
11:59610596		L>P	E:92	(-61.43, 12.08, -81.08)
11:59610581	rs150884181	M>T	E:97	(-62.56, 3.48, -78.53)
11:59610579		A>T	E:98	(-59.60, 1.93, -81.73)
11:59610572		T>I	E:100	(-57.54, 1.06, -76.89)
11:59610560	rs150639344	R>Q	E:104	(-50.31, 1.08, -80.47)
11:59610557		D>G	E:105	(-50.80, 5.30, -76.33)
11:59610554		P>H	E:106	(-54.02, 7.10, -77.06)
11:59610555		P>S	E:106	(-54.02, 7.10, -77.06)
11:59610540	rs371476220	S>T	E:111	(-55.87, 15.33, -73.83)
11:59610537		I>L	E:112	(-57.43, 16.89, -77.53)
11:59610509		A>E	E:121	(-73.06, 22.27, -75.17)
11:59610054	rs200473324	P>S	E:125	(-85.00, 21.21, -75.94)
11:59610050		N>S	E:126	(-86.13, 22.07, -80.01)
11:59610048		A>T	E:127	(-83.26, 19.64, -80.90)
11:59610035	rs369790024	A>G	E:131	(-77.27, 15.50, -81.40)
11:59610032		F>C	E:132	(-77.51, 14.17, -77.64)
11:59610030		Y>H	E:133	(-74.15, 8.66, -82.52)
11:59610026	COSM231248	G>E	E:134	(-71.54, 11.91, -80.61)
11:59610008		L>S	E:140	(-67.80, 5.45, -74.07)
11:59609981		A>V	E:149	(-62.97, 12.92, -64.82)
11:59609972	rs148081315	P>L	E:152	(-68.77, 16.21, -64.79)
11:59609960		R>H	E:156	(-72.83, 19.04, -68.69)
11:59609961	rs374000712	R>C	E:156	(-72.83, 19.04, -68.69)
11:59609945	rs200856492	L>R	E:161	(-80.51, 13.08, -73.36)
11:59609936		N>T	E:164	(-84.50, 16.32, -75.91)
11:59609930		S>F	E:166	(-86.96, 15.38, -80.18)
11:59609919		V>I	E:170	(-82.64, 3.88, -81.93)
11:59608795		T>A	E:172	(-78.75, 8.05, -80.33)
11:59608786		M>V	E:175	(-74.24, 4.80, -78.70)
11:59608760		M>I	E:183	(-70.29, 6.76, -65.87)
11:59608741		G>R	E:190	(-68.71, 8.51, -52.00)
11:59608729	rs375980909	G>S	E:194	(-77.26, 10.83, -57.57)
11:59608701		L>R	E:203	(-80.16, 4.25, -68.47)
11:59608692		I>T	E:206	(-83.22, 5.27, -73.14)
11:59608687		E>K	E:208	(-89.11, 1.54, -71.91)
11:59608677		S>I	E:211	(-88.84, -1.58, -76.36)
11:59608675		M>L	E:212	(-91.92, 1.27, -77.69)
11:59608671		K>R	E:213	(-88.97, 1.63, -82.01)
11:59608650		I>T	E:220	(-84.38, -2.98, -82.58)
11:59608624		A>S	E:229	(-79.52, -1.97, -79.89)
11:59604821		L>V	E:233	(-81.12, -4.14, -74.86)
11:59604817		S>Y	E:234	(-77.02, -6.44, -73.54)
11:59604799		S>Y	E:240	(-87.88, -3.69, -70.59)
11:59604783	rs201261367	N>K	E:245	(-87.53, -12.23, -78.16)
11:59604775		K>R	E:248	(-87.55, -12.68, -82.75)
11:59604767	rs139320672	D>N	E:251	(-82.51, -15.86, -85.63)
11:59604754	rs35867471	N>S	E:255	(-82.22, -15.20, -92.35)
11:59604748		I>T	E:257	(-76.69, -11.93, -93.29)
11:59604740		G>R	E:260	(-77.49, -8.94, -98.41)
11:59604730		H>R	E:263	(-73.47, -4.59, -98.88)
11:59604689	rs138504371	G>R	E:277	(-70.74, -10.96, -77.82)
11:59604671	rs533802342	V>M	E:283	(-62.51, -2.01, -75.88)
11:59604659		T>A	E:287	(-56.25, -9.70, -76.06)
11:59603479		H>R	E:292	(-57.04, -14.96, -85.01)
11:59603471		Q>K	E:295	(-62.65, -18.86, -92.73)
11:59603432		S>P	E:308	(-80.50, -10.32, -120.80)
11:59603429	rs369102168	A>T	E:309	(-81.47, -6.89, -119.03)
11:59603410	rs368702814	I>T	E:315	(-89.02, 9.43, -111.98)
11:59603408		Y>H	E:316	(-83.46, 12.57, -109.65)
11:59603398		N>S	E:319	(-86.72, 20.33, -104.26)
11:59603391	rs201134554	Q>H	E:321	(-88.34, 24.39, -100.46)
11:59603380		V>G	E:325	(-83.79, 33.96, -103.74)
11:59603363		E>K	E:331	(-89.07, 17.19, -112.35)
11:59603359		T>I	E:332	(-85.57, 13.78, -114.78)
11:59603357	rs146744565	I>V	E:333	(-86.89, 10.74, -116.90)
11:59603345		V>M	E:337	(-78.06, -0.93, -116.89)
11:59603342		K>Q	E:338	(-80.25, -5.07, -114.93)
11:59603336		G>W	E:340	(-78.23, -2.98, -110.13)
11:59603321		V>L	E:345	(-76.13, 5.34, -111.89)
11:59603307		E>D	E:349	(-76.57, 8.88, -116.62)
11:59603299	COSM4034360	R>H	E:352	(-73.44, 12.27, -119.43)
11:59603300	rs143526872	R>C	E:352	(-73.44, 12.27, -119.43)
11:59603290	rs201871926	P>R	E:355	(-76.45, 20.58, -116.82)
11:59603287		M>T	E:356	(-79.89, 21.89, -113.56)
11:59603282		K>E	E:358	(-73.62, 19.78, -111.05)
11:59599258		T>I	E:362	(-68.32, 13.50, -99.69)
11:59599259		T>A	E:362	(-68.32, 13.50, -99.69)
11:59599256		M>V	E:363	(-65.99, 9.23, -98.45)
11:59599250		S>P	E:365	(-67.66, 6.00, -92.51)
11:59599247		W>R	E:366	(-72.41, 3.86, -93.04)
11:59599226		I>V	E:373	(-77.53, 18.95, -105.68)
11:59599213	rs370902375 COSM123357	A>V	E:377	(-74.31, 22.83, -100.10)
11:59599214	rs139918773	A>T	E:377	(-74.31, 22.83, -100.10)
11:59599205	rs144070828	V>I	E:380	(-72.71, 22.36, -90.45)
11:59599199		H>Y	E:382	(-77.10, 26.76, -92.18)
11:59599194		K>N	E:383	(-78.57, 21.89, -88.42)
11:59599195		K>R	E:383	(-78.57, 21.89, -88.42)
11:59599190		Y>N	E:385	(-80.18, 16.71, -94.90)
11:59599180		F>S	E:388	(-81.78, 11.29, -101.44)
11:59599171		G>D	E:391	(-91.65, 10.13, -103.14)
11:59599163	COSM1508911	P>S	E:394	(-87.70, 8.49, -96.18)
11:59599153	rs150005713	E>V	E:397	(-79.92, 2.07, -98.53)
11:59597003		I>T	E:403	(-81.32, -0.97, -105.98)
11:59596986		H>N	E:409	(-90.55, 9.96, -107.93)