4KKI.A | TCN1 – ASTRID

4KKI.A | TCN1

General Structure Information

PDB ID	4kki
HGNC Gene Label(s)	TCN1
Structure Name	crystal structure of haptocorrin in complex with cncbl
Resolution	2.35Å
Reference	AUTH E.FURGER,D.C.FREI,R.SCHIBLI,E.FISCHER,A.E.PROTATITL STRUCTURAL BASIS FOR UNIVERSAL CORRINOID RECOGNITION BY THETITL 2 COBALAMIN TRANSPORT PROTEIN HAPTOCORRIN.REF J.BIOL.CHEM. V. 288 25466 2013REFN ISSN 0021-9258PMID 23846701DOI 10.1074/JBC.M113.483271

Variant Set Distributions

ExAC Variants

Number Of Residues	397
Number Of SNVs	129
Number Of Permutations	22245
Optimal Distance Threshold	6.0
K Statistic	0.013
p-value	0.861

COSMIC

Number Of Residues	397
Number Of SNVs	9
Number Of Permutations	2531
Optimal Distance Threshold	7.0
K Statistic	0.083
p-value	0.505

Ripley’s K Analysis Plots

ExACCOSMIC

Variant Set Comparisons

Cosmic vs. ExAC

Number Of ExAC SNVs	129
Number Of COSMIC SNVs	11
Optimal Distance Threshold	8.0
K Statistic	0.047
p-value	0.539

Pathogenic Proximity Analysis

COSMIC PathProx Analysis

Mapped Variants

[+] ExAC Missense Variants

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:59633874		E>K	A:1	(-33.21, 64.89, 8.89)
11:59631553		S>N	A:6	(-35.28, 55.76, -3.00)
11:59631551	rs371268445	E>K	A:7	(-38.96, 52.39, -3.47)
11:59631541		Y>C	A:10	(-34.72, 50.15, -2.31)
11:59631535	rs34528912	R>H	A:12	(-27.00, 52.94, -5.47)
11:59631519		L>F	A:17	(-28.24, 42.59, 0.16)
11:59631499		N>S	A:24	(-23.98, 31.76, 4.82)
11:59631496		Y>C	A:25	(-20.76, 29.98, 1.86)
11:59631487	rs548081467	G>E	A:28	(-16.34, 33.30, 11.73)
11:59631460	rs139452113	S>F	A:37	(-29.91, 44.26, 9.70)
11:59631461		S>P	A:37	(-29.91, 44.26, 9.70)
11:59631458		L>V	A:38	(-31.76, 41.77, 7.16)
11:59631448	rs372634621	V>A	A:41	(-35.12, 46.42, 6.84)
11:59631436		I>N	A:45	(-32.45, 35.75, 4.58)
11:59631425	rs372414904	M>L	A:49	(-32.56, 32.86, 10.49)
11:59631395		N>H	A:59	(-22.87, 30.10, 22.01)
11:59631385	rs147360142	S>N	A:62	(-21.41, 25.30, 25.19)
11:59630188		D>E	A:66	(-17.30, 32.57, 27.91)
11:59630187	rs376712264	V>I	A:67	(-21.08, 35.25, 25.92)
11:59630180	COSM929131	S>L	A:69	(-22.67, 41.70, 27.28)
11:59630172	rs142875875	L>F	A:72	(-26.62, 38.19, 25.16)
11:59630141	rs577965850	C>Y	A:82	(-40.34, 40.70, 15.50)
11:59630138		R>H	A:83	(-44.86, 37.64, 18.71)
11:59630139	rs200536092 COSM382779	R>C	A:83	(-44.86, 37.64, 18.71)
11:59630133	COSM1228787 COSM315849 COSM397426	A>T	A:85	(-40.97, 31.53, 17.17)
11:59630119		L>F	A:89	(-35.16, 31.13, 21.85)
11:59630118	rs199557500	I>V	A:90	(-35.49, 35.52, 24.50)
11:59630111		D>V	A:92	(-37.49, 29.36, 26.47)
11:59630112	rs35287646	D>N	A:92	(-37.49, 29.36, 26.47)
11:59630109		Y>H	A:93	(-32.72, 29.30, 25.79)
11:59630099		I>T	A:96	(-33.66, 39.14, 29.57)
11:59630097	rs80072840	D>N	A:97	(-32.65, 37.01, 33.41)
11:59630091		L>V	A:99	(-28.16, 40.89, 29.62)
11:59630086	rs569330297	E>D	A:100	(-30.35, 41.37, 34.11)
11:59630079		F>I	A:103	(-25.24, 45.82, 32.77)
11:59630075		Q>R	A:104	(-24.24, 44.32, 37.51)
11:59630072		A>E	A:105	(-20.31, 42.47, 35.54)
11:59630066		I>T	A:107	(-21.17, 47.85, 36.59)
11:59630064		E>K	A:108	(-19.55, 44.29, 39.67)
11:59629153		A>T	A:112	(-12.61, 47.13, 40.46)
11:59629148		H>Q	A:113	(-10.44, 46.86, 37.35)
11:59629146		N>S	A:114	(-10.12, 53.05, 37.50)
11:59629137	rs368461503	P>L	A:117	(-15.35, 48.03, 31.26)
11:59629131		T>I	A:119	(-16.14, 45.19, 27.27)
11:59629125		Y>C	A:121	(-19.18, 52.83, 28.20)
11:59629123		Y>D	A:122	(-20.94, 49.54, 20.68)
11:59629118	rs145685147	Q>H	A:123	(-20.54, 45.69, 24.46)
11:59629113		S>I	A:125	(-24.93, 50.82, 25.13)
11:59629107		D>G	A:127	(-26.11, 45.86, 27.49)
11:59629108		D>N	A:127	(-26.11, 45.86, 27.49)
11:59629105	COSM429351	V>I	A:128	(-29.11, 49.65, 28.30)
11:59629099		A>S	A:130	(-31.87, 45.39, 25.34)
11:59629086		F>S	A:134	(-36.71, 43.20, 24.78)
11:59629083	rs200198188	N>S	A:135	(-39.44, 45.20, 29.65)
11:59629074	rs138799841	Y>F	A:138	(-33.00, 49.23, 33.29)
11:59629062		E>G	A:142	(-26.02, 52.17, 37.66)
11:59629063	rs560596044	E>K	A:142	(-26.02, 52.17, 37.66)
11:59629059	rs200554043	V>A	A:143	(-27.53, 54.85, 33.29)
11:59629054		N>H	A:145	(-23.26, 57.06, 37.70)
11:59629044		T>N	A:148	(-21.34, 60.88, 31.88)
11:59629023		Y>C	A:155	(-13.57, 60.09, 24.71)
11:59629013		S>R	A:158	(-7.96, 61.93, 21.28)
11:59629014	rs145017990	S>N	A:158	(-7.96, 61.93, 21.28)
11:59629002		V>G	A:162	(-18.92, 58.01, 16.70)
11:59626738		T>A	A:164	(-19.63, 54.49, 21.60)
11:59626729		M>V	A:167	(-25.26, 52.43, 20.47)
11:59626725		A>D	A:168	(-25.55, 55.70, 23.75)
11:59626726	COSM1322333	A>S	A:168	(-25.55, 55.70, 23.75)
11:59626700	rs200450074 COSM172077	K>N	A:176	(-35.41, 59.48, 26.85)
11:59626697		K>N	A:177	(-39.20, 56.54, 24.41)
11:59626674		K>R	A:185	(-41.20, 53.45, 38.28)
11:59626663		G>S	A:189	(-34.56, 63.93, 36.98)
11:59626644	rs75927196	S>I	A:195	(-31.69, 64.63, 28.07)
11:59626641		I>T	A:196	(-28.23, 66.92, 29.59)
11:59626638		Y>C	A:197	(-25.87, 62.50, 30.34)
11:59626635		T>I	A:198	(-28.45, 62.89, 24.57)
11:59626636		T>A	A:198	(-28.45, 62.89, 24.57)
11:59626614	rs143824687	I>T	A:205	(-21.91, 62.60, 17.06)
11:59626601		K>N	A:209	(-19.93, 66.45, 9.97)
11:59626600	rs148979201	K>E	A:210	(-15.77, 64.38, 8.44)
11:59626590		G>V	A:213	(-20.93, 63.61, 5.61)
11:59626584		I>T	A:215	(-20.75, 61.01, 10.93)
11:59626570		S>R	A:220	(-19.40, 55.47, 12.05)
11:59626566		T>I	A:221	(-21.95, 56.95, 9.29)
11:59626567	rs147942868	T>A	A:221	(-21.95, 56.95, 9.29)
11:59626554		M>R	A:225	(-27.51, 58.09, 10.15)
11:59626550		Q>H	A:226	(-29.44, 54.61, 13.87)
11:59623530		A>V	A:227	(-28.66, 58.74, 16.57)
11:59623531	rs145109452	A>T	A:227	(-28.66, 58.74, 16.57)
11:59623503	rs139595894	N>S	A:236	(-30.77, 72.82, 13.99)
11:59623495		D>H	A:239	(-26.60, 71.43, 12.49)
11:59623491		W>S	A:240	(-27.47, 65.40, 9.39)
11:59623477		T>S	A:245	(-24.62, 61.53, 4.77)
11:59623462		L>F	A:250	(-25.17, 55.30, -1.55)
11:59623458		T>M	A:251	(-20.59, 56.49, -3.27)
11:59623443	rs375099667	G>E	A:256	(-16.76, 48.42, -1.73)
11:59623429		P>A	A:261	(-20.04, 41.34, 6.82)
11:59623423		A>T	A:263	(-20.33, 46.88, 7.90)
11:59623416		A>V	A:265	(-25.07, 45.33, 9.00)
11:59623413		Q>P	A:266	(-23.17, 48.20, 11.73)
11:59623395		M>T	A:272	(-34.10, 51.35, 4.70)
11:59623386		T>I	A:275	(-33.54, 52.78, 14.30)
11:59623378	rs34324219	D>Y	A:278	(-37.82, 50.75, 14.84)
11:59623369	rs536746183	K>E	A:281	(-41.50, 42.77, 22.47)
11:59623354	rs72550758	V>I	A:286	(-44.33, 41.29, 7.64)
11:59622248		Y>S	A:310	(5.90, 42.15, -6.60)
11:59622246	rs142805308	I>V	A:311	(4.21, 47.33, -3.77)
11:59622242		S>F	A:312	(7.28, 48.76, -1.39)
11:59622240	rs201160706 COSM1178538	V>I	A:313	(6.01, 49.41, 2.47)
11:59622218	COSM211521	N>S	A:320	(8.85, 52.44, 23.87)
11:59622204		T>S	A:325	(11.50, 46.87, 7.56)
11:59622195	rs371996652	T>S	A:328	(8.19, 43.59, -1.07)
11:59622192		V>M	A:329	(4.03, 42.99, -1.17)
11:59622182		G>D	A:332	(-3.15, 43.98, -3.26)
11:59622176	rs563165540	V>A	A:334	(-3.50, 42.98, 2.90)
11:59622164		V>A	A:338	(3.11, 43.46, 5.44)
11:59622165	rs138176480	V>M	A:338	(3.11, 43.46, 5.44)
11:59622152	rs575975014	A>D	A:342	(8.12, 40.56, 8.68)
11:59622138	rs115809648	D>Y	A:347	(9.63, 35.49, 14.79)
11:59622130	rs374043931	I>M	A:349	(11.45, 41.91, 16.04)
11:59622132	rs367928670	I>V	A:349	(11.45, 41.91, 16.04)
11:59620777	rs371448135 COSM1470442	R>H	A:357	(-11.96, 38.22, 17.02)
11:59620769	rs371013960	G>W	A:360	(-11.48, 39.45, 11.77)
11:59620765		P>L	A:361	(-8.15, 39.55, 11.14)
11:59620756		T>I	A:364	(-3.51, 40.19, 20.14)
11:59620744		G>D	A:368	(4.53, 38.99, 23.56)
11:59620741		L>P	A:369	(3.27, 42.99, 24.04)
11:59620739		C>R	A:370	(-0.36, 41.10, 24.78)
11:59620735	rs538179287	A>D	A:371	(-3.49, 43.31, 24.61)
11:59620732		N>T	A:372	(-4.89, 44.39, 28.85)
11:59620724		D>N	A:375	(-3.96, 47.59, 31.26)
11:59620717		T>I	A:377	(-3.61, 48.24, 26.25)
11:59620718		T>P	A:377	(-3.61, 48.24, 26.25)
11:59620691	rs140632800	E>K	A:386	(-3.43, 59.21, 10.09)
11:59620678	rs201046539	Q>R	A:390	(-9.78, 49.01, 6.76)
11:59620503		G>V	A:393	(-7.18, 42.00, 6.27)
11:59620488	rs189696084	R>H	A:398	(-1.78, 53.05, -1.25)
11:59620474		L>V	A:403	(2.64, 50.66, 6.97)
11:59620468		V>F	A:405	(1.86, 48.34, 14.44)
11:59620464	rs147187383	R>H	A:406	(1.37, 53.50, 17.26)
11:59620460		W>C	A:407	(1.32, 48.83, 23.35)
11:59620455	rs368440312	K>R	A:409	(-2.31, 53.48, 25.84)

4KKI.A | TCN1.

4KKI.A | TCN1

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

Position	Variant	AA Change	PDB Chain Position	Structure Coordinates
11:59630138	COSM4382432	R>H	A:83	(-44.86, 37.64, 18.71)
11:59630139	COSM382779	R>C	A:83	(-44.86, 37.64, 18.71)
11:59630133	COSM315849	A>S	A:85	(-40.97, 31.53, 17.17)
11:59630112	COSM929130	D>N	A:92	(-37.49, 29.36, 26.47)
11:59630108	COSM2035798	Y>C	A:93	(-32.72, 29.30, 25.79)
11:59630104	COSM334988	H>Q	A:94	(-34.61, 32.63, 31.35)
11:59629066	COSM2157455	A>T	A:141	(-28.97, 55.31, 38.39)
11:59629021	COSM3416032	F>V	A:156	(-11.23, 54.61, 21.77)
11:59626616	COSM429350	K>N	A:204	(-19.28, 65.09, 21.57)
11:59623392	COSM4396750	G>E	A:273	(-35.04, 54.52, 8.17)
11:59622240	COSM1178538	V>I	A:313	(6.01, 49.41, 2.47)
11:59620784	COSM3710362	E>K	A:355	(-7.26, 36.25, 18.29)