Variant VAR_018550 | SNPeffect 4.0

Phenotypic summary of VAR_018550

Compact overview of VAR_018550
UniProt ID	Gene	Mutation	Mutation type	Disease	OMIM	dbSNP
PKHD1_HUMAN	PKHD1	L1709F	Polymorphism	-	No OMIM entry	rs45517932

Short stretch summary of VAR_018550
Predictor	Predicted regions overview	Comparison to WT	Stretches in variant	Stretches in WT
Tango		0 No change	75	75
Waltz		0 No change	41	41
Limbo		0 No change	57	57
Domain composition of PKHD1_HUMAN
Database	Domain composition	Residue details
SMART		IPT (Residues 258-355), IPT (Residues 1018-1103), PbH1 (Residues 1077-1099), IPT (Residues 1107-1193), IPT (Residues 1195-1294), IPT (Residues 1388-1482), IPT (Residues 1572-1659), PbH1 (Residues 2226-2248), PbH1 (Residues 2249-2271), PbH1 (Residues 2292-2325), PbH1 (Residues 2326-2347), PbH1 (Residues 2409-2431), PbH1 (Residues 2469-2502), PbH1 (Residues 3010-3032), PbH1 (Residues 3033-3055), PbH1 (Residues 3086-3108)
PFAM		TIG (Residues 259-333), TIG (Residues 931-1010), TIG (Residues 1019-1102), TIG (Residues 1197-1283), TIG (Residues 1389-1480), TIG (Residues 1486-1568), TIG (Residues 1573-1657), G8 (Residues 1932-2053), G8 (Residues 2740-2873)

TANGO aggregation

Graphical comparison of TANGO regions in variant and wild type
Protein	Predicted regions overview	TANGO regions	Total score
Variant		75	22647
Wild type		75	22647

TANGO regions in wild type and variant
Wild type TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
M	TAWLISLMSIEVLLLAVR	HLSLH	2	19	42
SLAGG	TWITVIF	DGLEL	36	42	84
GVPGK	LIHVYGWIIT	GRLET	152	161	53
IGSQN	VSFSVF	NKGKS	227	232	9
PETNN	YTFWI	QADSQ	388	392	62
WLNPD	VVTTYL	REKHQ	482	487	43
VSGRG	NFFLTW	DNVSS	513	518	33
CKLEP	LWSNILL	RLGFE	552	558	6
NKILK	MIVSFTIGF	QNMVK	627	635	50
VGSPP	VYSVTSWLA	GCGTE	740	748	22
TEEGS	GLVLVTT	QRRQR	772	778	52
QGSTP	CVHSVWYSI	DGDIN	932	940	12
SIDGD	INLMIYITG	TGFSG	944	952	49
SGDSQ	FLQVTV	NKTSC	961	966	7
VGMHR	ILMLV	RPSGL	995	999	24
ATGED	LFLNV	KPRLD	1013	1017	9
SSLEG	VSLILFGSY	SCAIN	1047	1055	48
GKDGR	IVNVTVI	RGDYS	1082	1088	30
AVLPR	AFTYV	SSLNP	1099	1103	8
SSLNP	VIVTLS	RNISN	1109	1114	48
IAGGE	TLVIGVA	RLMNY	1125	1131	65
SLLGG	TILSI	SGIGF	1212	1216	7
FSRDP	ALVWVLVG	NRSCD	1226	1233	78
LVGKG	FTFMY	EAAAT	1291	1295	39
SNLSN	SVILLG	NLNCD	1327	1332	32
MGFAN	MSVVLQQFAV	MPRIM	1378	1387	13
SACGG	TILTV	RGLLL	1405	1409	6
DLSGP	FTCVILSL	GDHTI	1429	1436	41
LPGAS	FSLNVTVLVN	GLTSE	1457	1466	55
ECQGN	CTLFI	REEAS	1476	1480	13
NTSGS	LTTVLI	RGQRL	1499	1504	28
QLPCN	VTFFN	ASHVV	1528	1532	9
APGPH	YLSVFYT	RNGYA	1549	1555	34
IEVDG	LWYHIGVIGY	NKAFT	1643	1652	27
SQSDD	ILTFAVAQI	SGAAN	1669	1677	39
RGWAS	SALVFT	SRVII	1728	1733	11
VFTSR	VIITAVT	ENFGC	1736	1742	87
NATVS	AFSCLV	LPLDV	1784	1789	6
VLPLD	VSLAFLC	GLKRE	1794	1800	16
SMFPS	FSGLFI	SPKLE	1861	1866	7
GSLPE	VIVTCL	RATAH	2046	2051	65
NPGDE	VVIISGTGV	KGAKP	2076	2084	15
KHLSS	LTLVG	AMRES	2220	2224	8
KVDSN	VFYNILGHALLVG	TCTEM	2258	2270	38
IIRNN	VIIQV	SGAEG	2301	2305	32
VCGAG	YGYFFHLM	TNQTS	2341	2348	19
HSCTR	YGLFV	YPKFQ	2371	2375	5
VTGTT	LFQSFTVW	ESAGG	2391	2398	7
FVNFD	LINCVAI	RTCSD	2479	2485	9
SNPRG	WMALLL	DQETY	2613	2618	57
FAPGN	YLLLV	HTDLP	2650	2654	81
SQLRQ	LTYLVS	GEGQV	2699	2704	23
SGEGQ	VQVIL	RVKEG	2709	2713	9
PFFKG	LYVMGTL	DFPVD	2783	2789	14
VDRSN	VLSVACMVIA	GGELK	2798	2807	69
EKEQK	LLILL	RASEG	2826	2830	34
EEFSG	VLQLL	NVEIQ	2985	2989	6
EGQAY	TVTNNLVVLMT	QPAWS	3059	3069	44
LMTQP	AWSTIWVAGI	KVNQV	3072	3081	29
TLVDN	TIGLLAVVYVFS	APQNS	3176	3187	75
VLRNS	VIVAT	SSSFD	3204	3208	38
MKLQD	VTFSSFV	KSCYS	3278	3284	27
KQTDQ	VVLIL	DSADA	3411	3415	78
LDSAD	AIWAI	QKLYP	3420	3424	38
QKLYP	VVSVTS	GFVDV	3430	3435	11
STSGS	VSTFYSI	LPIRQ	3456	3462	7
KSTSK	LLLAVFY	HELQS	3494	3500	97
NIMDN	LLYVVL	QGEEP	3542	3547	91
EIRSG	VSIHLALTVMVSVL	EKGWE	3559	3572	68
ASPPM	TVETISKVIVIEI	GDSPT	3654	3666	23
GVLEN	VLNMTIGALLVT	QSKGV	3705	3716	34
IYIRP	YALSILV	QPSDG	3741	3747	40
ETQDG	YVSFYNLAVLIS	GSNWH	3810	3821	74
GSNWH	FIFTVT	SPPGV	3827	3832	81
TRKEK	STIILAASLSSVASWLALSCLVCCWL	KRSKS	3857	3882	42
Variant protein TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
M	TAWLISLMSIEVLLLAVR	HLSLH	2	19	42
SLAGG	TWITVIF	DGLEL	36	42	84
GVPGK	LIHVYGWIIT	GRLET	152	161	53
IGSQN	VSFSVF	NKGKS	227	232	9
PETNN	YTFWI	QADSQ	388	392	62
WLNPD	VVTTYL	REKHQ	482	487	43
VSGRG	NFFLTW	DNVSS	513	518	33
CKLEP	LWSNILL	RLGFE	552	558	6
NKILK	MIVSFTIGF	QNMVK	627	635	50
VGSPP	VYSVTSWLA	GCGTE	740	748	22
TEEGS	GLVLVTT	QRRQR	772	778	52
QGSTP	CVHSVWYSI	DGDIN	932	940	12
SIDGD	INLMIYITG	TGFSG	944	952	49
SGDSQ	FLQVTV	NKTSC	961	966	7
VGMHR	ILMLV	RPSGL	995	999	24
ATGED	LFLNV	KPRLD	1013	1017	9
SSLEG	VSLILFGSY	SCAIN	1047	1055	48
GKDGR	IVNVTVI	RGDYS	1082	1088	30
AVLPR	AFTYV	SSLNP	1099	1103	8
SSLNP	VIVTLS	RNISN	1109	1114	48
IAGGE	TLVIGVA	RLMNY	1125	1131	65
SLLGG	TILSI	SGIGF	1212	1216	7
FSRDP	ALVWVLVG	NRSCD	1226	1233	78
LVGKG	FTFMY	EAAAT	1291	1295	39
SNLSN	SVILLG	NLNCD	1327	1332	32
MGFAN	MSVVLQQFAV	MPRIM	1378	1387	13
SACGG	TILTV	RGLLL	1405	1409	6
DLSGP	FTCVILSL	GDHTI	1429	1436	41
LPGAS	FSLNVTVLVN	GLTSE	1457	1466	55
ECQGN	CTLFI	REEAS	1476	1480	13
NTSGS	LTTVLI	RGQRL	1499	1504	28
QLPCN	VTFFN	ASHVV	1528	1532	9
APGPH	YLSVFYT	RNGYA	1549	1555	34
IEVDG	LWYHIGVIGY	NKAFT	1643	1652	27
SQSDD	ILTFAVAQI	SGAAN	1669	1677	39
RGWAS	SALVFT	SRVII	1728	1733	11
VFTSR	VIITAVT	ENFGC	1736	1742	87
NATVS	AFSCLV	LPLDV	1784	1789	6
VLPLD	VSLAFLC	GLKRE	1794	1800	16
SMFPS	FSGLFI	SPKLE	1861	1866	7
GSLPE	VIVTCL	RATAH	2046	2051	65
NPGDE	VVIISGTGV	KGAKP	2076	2084	15
KHLSS	LTLVG	AMRES	2220	2224	8
KVDSN	VFYNILGHALLVG	TCTEM	2258	2270	38
IIRNN	VIIQV	SGAEG	2301	2305	32
VCGAG	YGYFFHLM	TNQTS	2341	2348	19
HSCTR	YGLFV	YPKFQ	2371	2375	5
VTGTT	LFQSFTVW	ESAGG	2391	2398	7
FVNFD	LINCVAI	RTCSD	2479	2485	9
SNPRG	WMALLL	DQETY	2613	2618	57
FAPGN	YLLLV	HTDLP	2650	2654	81
SQLRQ	LTYLVS	GEGQV	2699	2704	23
SGEGQ	VQVIL	RVKEG	2709	2713	9
PFFKG	LYVMGTL	DFPVD	2783	2789	14
VDRSN	VLSVACMVIA	GGELK	2798	2807	69
EKEQK	LLILL	RASEG	2826	2830	34
EEFSG	VLQLL	NVEIQ	2985	2989	6
EGQAY	TVTNNLVVLMT	QPAWS	3059	3069	44
LMTQP	AWSTIWVAGI	KVNQV	3072	3081	29
TLVDN	TIGLLAVVYVFS	APQNS	3176	3187	75
VLRNS	VIVAT	SSSFD	3204	3208	38
MKLQD	VTFSSFV	KSCYS	3278	3284	27
KQTDQ	VVLIL	DSADA	3411	3415	78
LDSAD	AIWAI	QKLYP	3420	3424	38
QKLYP	VVSVTS	GFVDV	3430	3435	11
STSGS	VSTFYSI	LPIRQ	3456	3462	7
KSTSK	LLLAVFY	HELQS	3494	3500	97
NIMDN	LLYVVL	QGEEP	3542	3547	91
EIRSG	VSIHLALTVMVSVL	EKGWE	3559	3572	68
ASPPM	TVETISKVIVIEI	GDSPT	3654	3666	23
GVLEN	VLNMTIGALLVT	QSKGV	3705	3716	34
IYIRP	YALSILV	QPSDG	3741	3747	40
ETQDG	YVSFYNLAVLIS	GSNWH	3810	3821	74
GSNWH	FIFTVT	SPPGV	3827	3832	81
TRKEK	STIILAASLSSVASWLALSCLVCCWL	KRSKS	3857	3882	42

Difference in TANGO aggregation between wild type and variant
	This graph plots the per-residue TANGO aggregation score difference between the wild type protein and this variant. From left to right, all residue TANGO score differences from the N-terminus to the C-terminus are plotted. A flat line indicates that the variant does not alter the aggregation profile of the protein. Positive peaks indicate increased aggregation tendency due to this variant. Negative peaks indicate decreased aggregation tendency due to this variant.

Difference in TANGO aggregation between wild type and variant

This graph plots the per-residue TANGO aggregation score difference between the wild type protein and this variant.
From left to right, all residue TANGO score differences from the N-terminus to the C-terminus are plotted.
A flat line indicates that the variant does not alter the aggregation profile of the protein.
Positive peaks indicate increased aggregation tendency due to this variant.
Negative peaks indicate decreased aggregation tendency due to this variant.

TANGO aggregation profile score plot
	This graph plots the per-residue TANGO aggregation score of the variant protein. From left to right, all residue scores from the N-terminus to the C-terminus are plotted

WALTZ amylogenicity

Graphical comparison of WALTZ regions in variant and wild type
Protein	Predicted regions overview	WALTZ regions	Total score
Variant		41	13929
Wild type		41	13929

WALTZ regions in wild type and variant
Wild type WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
M	TAWLIS	LMSIE	2	7	78
VLSEA	HEGLYFLEAYF	GGQLV	101	111	14
GKLIH	VYGWIIT	GRLET	155	161	39
GSQNV	SFSVFN	KGKSM	228	233	6
SMVHK	KAWLIS	AKQDL	242	247	92
ISAKQ	DLFLYQ	THSEI	251	256	87
FFDNS	AQVTIA	GIPCD	288	293	98
PETNN	YTFWIQ	ADSQA	388	393	84
LELLG	GAMYYL	EAEHH	449	454	16
PLAQE	TGLFYVDEIIIA	DTNVT	697	708	17
STPCV	HSVWYS	IDGDI	934	939	84
DGDIN	LMIYI	TGTGF	946	950	6
GSSLE	GVSLIL	FGSYS	1046	1051	17
SAVLP	RAFTYV	SSLNP	1098	1103	41
VTLSR	NISNIA	GGETL	1116	1121	74
PGPHY	LSVFYT	RNGYA	1550	1555	24
SGNVS	RHFYIM	PQVFH	1567	1572	11
FYIMP	QVFHYF	PKNFS	1574	1579	53
RGQNT	TSVYID	QQTCL	1604	1609	30
DQQTC	LTVNIG	AELIR	1614	1619	21
ICEES	SQCLFV	PDHWA	1844	1849	48
PKLER	DEVLIYN	SSCNI	1873	1879	70
WNPGD	EVVIIS	GTGVK	2075	2080	72
GLKVD	SNVFYNIL	GHALL	2256	2263	63
GNIIR	NNVIIQ	VSGAE	2299	2304	64
RVCGA	GYGYFF	HLMTN	2340	2345	37
APLLS	FTQNIA	HSCTR	2360	2365	11
MVSNT	TFVNFD	LINCV	2473	2478	95
SRNKT	TTVNYV	RDTLS	2598	2603	90
YSLQS	ENLWIN	RSLQY	2628	2633	26
GQNQG	CDWFFN	SQLRQ	2688	2693	46
IPGPG	DDVLIL	PNRTV	2761	2766	75
FSNVS	AGSWIIS	STLHQ	3011	3017	67
GIMKL	QDVTFS	SFVKS	3276	3281	25
TEAEW	TASFFN	AGTFR	3379	3384	33
CKQTD	QVVLIL	DSADA	3410	3415	76
LDSAD	AIWAIQ	KLYPV	3420	3425	96
ESIGA	NYFNIM	DNLLY	3534	3539	98
SSFKT	GNLIYIR	PYALS	3733	3739	20
ETQDG	YVSFYNLAVLIS	GSNWH	3810	3821	27
APGAP	AQQVYL	QETGN	3988	3993	56
Variant protein WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
M	TAWLIS	LMSIE	2	7	78
VLSEA	HEGLYFLEAYF	GGQLV	101	111	14
GKLIH	VYGWIIT	GRLET	155	161	39
GSQNV	SFSVFN	KGKSM	228	233	6
SMVHK	KAWLIS	AKQDL	242	247	92
ISAKQ	DLFLYQ	THSEI	251	256	87
FFDNS	AQVTIA	GIPCD	288	293	98
PETNN	YTFWIQ	ADSQA	388	393	84
LELLG	GAMYYL	EAEHH	449	454	16
PLAQE	TGLFYVDEIIIA	DTNVT	697	708	17
STPCV	HSVWYS	IDGDI	934	939	84
DGDIN	LMIYI	TGTGF	946	950	6
GSSLE	GVSLIL	FGSYS	1046	1051	17
SAVLP	RAFTYV	SSLNP	1098	1103	41
VTLSR	NISNIA	GGETL	1116	1121	74
PGPHY	LSVFYT	RNGYA	1550	1555	24
SGNVS	RHFYIM	PQVFH	1567	1572	11
FYIMP	QVFHYF	PKNFS	1574	1579	53
RGQNT	TSVYID	QQTCL	1604	1609	30
DQQTC	LTVNIG	AELIR	1614	1619	21
ICEES	SQCLFV	PDHWA	1844	1849	48
PKLER	DEVLIYN	SSCNI	1873	1879	70
WNPGD	EVVIIS	GTGVK	2075	2080	72
GLKVD	SNVFYNIL	GHALL	2256	2263	63
GNIIR	NNVIIQ	VSGAE	2299	2304	64
RVCGA	GYGYFF	HLMTN	2340	2345	37
APLLS	FTQNIA	HSCTR	2360	2365	11
MVSNT	TFVNFD	LINCV	2473	2478	95
SRNKT	TTVNYV	RDTLS	2598	2603	90
YSLQS	ENLWIN	RSLQY	2628	2633	26
GQNQG	CDWFFN	SQLRQ	2688	2693	46
IPGPG	DDVLIL	PNRTV	2761	2766	75
FSNVS	AGSWIIS	STLHQ	3011	3017	67
GIMKL	QDVTFS	SFVKS	3276	3281	25
TEAEW	TASFFN	AGTFR	3379	3384	33
CKQTD	QVVLIL	DSADA	3410	3415	76
LDSAD	AIWAIQ	KLYPV	3420	3425	96
ESIGA	NYFNIM	DNLLY	3534	3539	98
SSFKT	GNLIYIR	PYALS	3733	3739	20
ETQDG	YVSFYNLAVLIS	GSNWH	3810	3821	27
APGAP	AQQVYL	QETGN	3988	3993	56

Difference in WALTZ amylogenicity between wild type and variant
	This graph plots the per-residue WALTZ amylogenic score difference between the wild type protein and this variant. From left to right, all residue WALTZ score differences from the N-terminus to the C-terminus are plotted. A flat line indicates that the variant does not alter the amylogenic profile of the protein. Positive peaks indicate increased amylogenic tendency due to this variant. Negative peaks indicate decreased amylogenic tendency due to this variant.

Difference in WALTZ amylogenicity between wild type and variant

This graph plots the per-residue WALTZ amylogenic score difference between the wild type protein and this variant.
From left to right, all residue WALTZ score differences from the N-terminus to the C-terminus are plotted.
A flat line indicates that the variant does not alter the amylogenic profile of the protein.
Positive peaks indicate increased amylogenic tendency due to this variant.
Negative peaks indicate decreased amylogenic tendency due to this variant.

WALTZ amylogenic profile score plot
	This graph plots the per-residue WALTZ amylogenic score of the variant protein. From left to right, all residue scores from the N-terminus to the C-terminus are plotted

LIMBO chaperone binding

Graphical comparison of LIMBO regions in variant and wild type
Protein	Predicted regions overview	LIMBO regions	Total score
Variant		57	33585
Wild type		57	33585

LIMBO regions in wild type and variant
Wild type LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
AGGTW	ITVIFDGL	ELGVL	38	45	99
AHEGL	YFLEAYFG	GQLVS	105	112	80
HVYGW	IITGRLET	FDFDA	159	166	100
SAKQD	LFLYQTHS	EILSV	252	259	100
APGKD	VRLTTPQPG	NRGLL	318	326	87
APETN	NYTFWIQA	DSQAS	387	394	100
LGGAM	YYLEAEHH	GIAPS	452	459	96
SGRGN	FFLTWDNV	SSQPI	514	521	100
LVHQI	NLLPLAQE	TGLFY	689	696	100
EEGSG	LVLVTTQR	RQRTS	773	780	11
PLGGH	FRIQLPNTVI	SDVPV	792	801	50
DDFTS	RYLNASDF	TVKED	827	834	24
CYEHV	WTLSWSTQ	IGDLP	848	855	20
VGMHR	ILMLVRPS	GLAIS	995	1002	100
VIGVA	RLMNYTDL	DVEVH	1132	1139	100
PALVW	VLVGNRSC	DIVNL	1230	1237	100
LSNSV	ILLGNLNC	DVETQ	1329	1336	36
LQVRQ	KQMGFANM	SVVLQ	1371	1378	26
FANMS	VVLQQFAVMPRIM	AIFPS	1380	1392	15
LTVRG	LLLNSRRR	SVRVD	1412	1419	41
QGNCT	LFIREEAS	PVMDA	1478	1485	100
NVSRH	FYIMPQVF	HYFPK	1569	1576	100
VDGLW	YHIGVIGY	NKAFT	1645	1652	100
LVFTS	RVIITAVT	ENFGC	1735	1742	99
VKITE	IRKRWGQN	TQGNF	1908	1915	100
HIKGG	KLIFMAPGPI	ELRAH	1972	1981	36
FPYGV	KFLAVRNG	TLSLH	2028	2035	90
VQDTD	LYLKSPLR	YSHNF	2104	2111	98
RDMGA	RVIVQSFP	EEPSQ	2186	2193	92
TCTEM	RYISWEAI	HGRKD	2276	2283	100
GYGYF	FHLMTNQT	SQAPL	2345	2352	89
CTRYG	LFVYPKFQ	PPWDN	2373	2380	6
SVTDS	LLLGHFAH	KGSLC	2442	2449	95
FAPGN	YLLLVHTDL	PPYPD	2650	2658	89
GPGDD	VLILPNRT	VLVDT	2763	2770	100
EKEQK	LLILLRAS	EGVFC	2826	2833	100
RIIVE	DAVDWRPH	DKIVL	2886	2893	91
HHVRI	YERLK	HRHIG	2924	2928	5
VTEDG	RHIRLAAE	VGLLT	2942	2949	10
LAAEV	GLLTRNIQI	QPDVS	2951	2959	8
RGRLF	VGSFRK	SSREE	2971	2976	10
EFSGV	LQLLNVEIQNFGS	PLYSS	2986	2998	23
YTVTN	NLVVLMTQPAW	STIWV	3063	3073	42
HKCSS	CELLWSDN	VAHSS	3114	3121	61
SSLHG	LHLYKESG	LDNCT	3130	3137	26
NSVKK	VQIVLRNSVI	VATSS	3196	3205	73
PRGGR	IGILWPVF	TSEPN	3241	3248	22
CASPR	KYLFKDLD	GRALG	3351	3358	100
KQTDQ	VVLILDSA	DAIWA	3411	3418	98
KSTSK	LLLAVFYH	ELQSP	3494	3501	95
MDNLL	YVVLQGE	EPIEI	3544	3550	45
VMVSV	LEKGWEIVILERLTNFLQIGQNQI	RFIHE	3572	3595	18
VETIS	KVIVIEIGDS	PTVRS	3660	3669	47
KTGNL	IYIRPYAL	SILVQ	3736	3743	99
SGSNW	HFIFTVTS	PPGVN	3826	3833	100
EGQEQ	LLRYQLAG	QNQLL	4006	4013	87
QLAGQ	NQLLLLCP	DFRQE	4015	4022	8
Variant protein LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
AGGTW	ITVIFDGL	ELGVL	38	45	99
AHEGL	YFLEAYFG	GQLVS	105	112	80
HVYGW	IITGRLET	FDFDA	159	166	100
SAKQD	LFLYQTHS	EILSV	252	259	100
APGKD	VRLTTPQPG	NRGLL	318	326	87
APETN	NYTFWIQA	DSQAS	387	394	100
LGGAM	YYLEAEHH	GIAPS	452	459	96
SGRGN	FFLTWDNV	SSQPI	514	521	100
LVHQI	NLLPLAQE	TGLFY	689	696	100
EEGSG	LVLVTTQR	RQRTS	773	780	11
PLGGH	FRIQLPNTVI	SDVPV	792	801	50
DDFTS	RYLNASDF	TVKED	827	834	24
CYEHV	WTLSWSTQ	IGDLP	848	855	20
VGMHR	ILMLVRPS	GLAIS	995	1002	100
VIGVA	RLMNYTDL	DVEVH	1132	1139	100
PALVW	VLVGNRSC	DIVNL	1230	1237	100
LSNSV	ILLGNLNC	DVETQ	1329	1336	36
LQVRQ	KQMGFANM	SVVLQ	1371	1378	26
FANMS	VVLQQFAVMPRIM	AIFPS	1380	1392	15
LTVRG	LLLNSRRR	SVRVD	1412	1419	41
QGNCT	LFIREEAS	PVMDA	1478	1485	100
NVSRH	FYIMPQVF	HYFPK	1569	1576	100
VDGLW	YHIGVIGY	NKAFT	1645	1652	100
LVFTS	RVIITAVT	ENFGC	1735	1742	99
VKITE	IRKRWGQN	TQGNF	1908	1915	100
HIKGG	KLIFMAPGPI	ELRAH	1972	1981	36
FPYGV	KFLAVRNG	TLSLH	2028	2035	90
VQDTD	LYLKSPLR	YSHNF	2104	2111	98
RDMGA	RVIVQSFP	EEPSQ	2186	2193	92
TCTEM	RYISWEAI	HGRKD	2276	2283	100
GYGYF	FHLMTNQT	SQAPL	2345	2352	89
CTRYG	LFVYPKFQ	PPWDN	2373	2380	6
SVTDS	LLLGHFAH	KGSLC	2442	2449	95
FAPGN	YLLLVHTDL	PPYPD	2650	2658	89
GPGDD	VLILPNRT	VLVDT	2763	2770	100
EKEQK	LLILLRAS	EGVFC	2826	2833	100
RIIVE	DAVDWRPH	DKIVL	2886	2893	91
HHVRI	YERLK	HRHIG	2924	2928	5
VTEDG	RHIRLAAE	VGLLT	2942	2949	10
LAAEV	GLLTRNIQI	QPDVS	2951	2959	8
RGRLF	VGSFRK	SSREE	2971	2976	10
EFSGV	LQLLNVEIQNFGS	PLYSS	2986	2998	23
YTVTN	NLVVLMTQPAW	STIWV	3063	3073	42
HKCSS	CELLWSDN	VAHSS	3114	3121	61
SSLHG	LHLYKESG	LDNCT	3130	3137	26
NSVKK	VQIVLRNSVI	VATSS	3196	3205	73
PRGGR	IGILWPVF	TSEPN	3241	3248	22
CASPR	KYLFKDLD	GRALG	3351	3358	100
KQTDQ	VVLILDSA	DAIWA	3411	3418	98
KSTSK	LLLAVFYH	ELQSP	3494	3501	95
MDNLL	YVVLQGE	EPIEI	3544	3550	45
VMVSV	LEKGWEIVILERLTNFLQIGQNQI	RFIHE	3572	3595	18
VETIS	KVIVIEIGDS	PTVRS	3660	3669	47
KTGNL	IYIRPYAL	SILVQ	3736	3743	99
SGSNW	HFIFTVTS	PPGVN	3826	3833	100
EGQEQ	LLRYQLAG	QNQLL	4006	4013	87
QLAGQ	NQLLLLCP	DFRQE	4015	4022	8

Difference in LIMBO chaperone binding between wild type and variant
	This graph plots the per-residue LIMBO chaperone binding difference between the wild type protein and this variant. From left to right, all residue LIMBO score differences from the N-terminus to the C-terminus are plotted. A flat line indicates that the variant does not alter the chaperone binding profile of the protein. Positive peaks indicate increased predicted chaperone binding due to this variant. Negative peaks indicate decreased predicted chaperone binding due to this variant.

Difference in LIMBO chaperone binding between wild type and variant

This graph plots the per-residue LIMBO chaperone binding difference between the wild type protein and this variant.
From left to right, all residue LIMBO score differences from the N-terminus to the C-terminus are plotted.
A flat line indicates that the variant does not alter the chaperone binding profile of the protein.
Positive peaks indicate increased predicted chaperone binding due to this variant.
Negative peaks indicate decreased predicted chaperone binding due to this variant.

LIMBO chaperone binding score plot
	This graph plots the per-residue LIMBO chaperone binding score of the variant protein. From left to right, all residue scores from the N-terminus to the C-terminus are plotted

FOLDX structural profile

There is currently no structural information available to make the required analyses.

Functional sites, structural features and cellular processing

Functional sites and structural features
Feature	This residue
Catalytic site	No
Secondary structure	No secondary structure information available
Transmembrane topology	No TM regions in this protein

Cellular processing
Feature	Affected by variant
Signal peptide	No
Farnesylation anchor	No
N-Myristoylation anchor	No
Geranylgeranyl transferase Type 1 anchor	No
Geranylgeranyl transferase Type 2 anchor	No
Glycosylphosphatidylinositol (GPI) anchor	No
Peroxisomal targeting signal PTS1	No
Subcellular location	No

All mutations from PKHD1_HUMAN

114 mutations listed

Variant	UniProt ID	Mutation	Disease	Mutation Type	dTANGO	dWALTZ	dLIMBO	ddG
VAR_014042	PKHD1_HUMAN	T752M	-	Polymorphism	0	0	0	N.A.
VAR_014041	PKHD1_HUMAN	F253L	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	-5	-384	0	N.A.
VAR_014045	PKHD1_HUMAN	W852R	-	Polymorphism	-4	0	480	N.A.
VAR_014043	PKHD1_HUMAN	R760C	-	Polymorphism	0	0	0	N.A.
VAR_014047	PKHD1_HUMAN	C1204Y	-	Polymorphism	0	0	0	N.A.
VAR_014049	PKHD1_HUMAN	A1262V	-	Polymorphism	0	0	0	N.A.
VAR_014039	PKHD1_HUMAN	T36M	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	29	-3	0	N.A.
VAR_014054	PKHD1_HUMAN	Q1917R	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	2	-30	0	N.A.
VAR_014057	PKHD1_HUMAN	T2938M	-	Polymorphism	0	0	0	N.A.
VAR_014060	PKHD1_HUMAN	D3139Y	-	Polymorphism	0	1	0	N.A.
VAR_014040	PKHD1_HUMAN	I222V	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	0	0	0	N.A.
VAR_014062	PKHD1_HUMAN	V3960I	-	Polymorphism	0	0	0	N.A.
VAR_014063	PKHD1_HUMAN	Q4048R	-	Polymorphism	2	0	-20	N.A.
VAR_018521	PKHD1_HUMAN	I25V	-	Polymorphism	0	0	0	N.A.
VAR_018526	PKHD1_HUMAN	E457D	-	Polymorphism	0	0	-75	N.A.
VAR_014044	PKHD1_HUMAN	R760H	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	-2	0	0	N.A.
VAR_018527	PKHD1_HUMAN	I473S	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	0	0	0	N.A.
VAR_018529	PKHD1_HUMAN	R488P	-	Polymorphism	-242	1	15	N.A.
VAR_014052	PKHD1_HUMAN	S1664F	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	91	298	0	N.A.
VAR_014048	PKHD1_HUMAN	C1249W	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	1	7	-21	N.A.
VAR_014051	PKHD1_HUMAN	R1624W	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	196	187	0	N.A.
VAR_014053	PKHD1_HUMAN	V1741M	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	-145	6	0	N.A.
VAR_018534	PKHD1_HUMAN	V732F	-	Polymorphism	0	0	0	N.A.
VAR_018531	PKHD1_HUMAN	T579M	-	Polymorphism	0	0	0	N.A.
VAR_014055	PKHD1_HUMAN	E1995G	Polycystic kidney disease autosomal recessive (ARPKD)	Disease	0	0	0	N.A.