Variant VAR_061568 | SNPeffect 4.0

Compact overview of VAR_061568
UniProt ID	Gene	Mutation	Mutation type	Disease	OMIM	dbSNP

Short stretch summary of VAR_061568
Tango		0 No change	16	16
Waltz		0 No change	29	29
Limbo		-47 No change	36	37
Domain composition of CASC5_HUMAN
Database	Domain composition	Residue details

TANGO aggregation

Graphical comparison of TANGO regions in variant and wild type
Protein	Predicted regions overview	TANGO regions	Total score
Variant		16	4051
Wild type		16	4051

TANGO regions in wild type and variant
Wild type TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
ETGEN	LLLIQ	NKKLE	117	121	12
ATSHN	IVYCGGVL	DKQIT	698	705	8
LTKSH	TVVIGF	GPSEL	795	800	54
AGTSE	TILYTC	RQDDM	930	935	13
RPMDK	TVVFV	DNHVE	968	972	88
LKNDK	TIVFS	ENHKN	1101	1105	7
RPMDK	TVLFT	DNYSD	1180	1184	15
KGQLD	CVITL	HKDQD	1407	1411	14
LNSEE	WFAAAC	KKELK	1524	1529	12
GKTGE	FLAFQT	VHLPP	1597	1602	6
ITIRE	FFILLQVHILI	QKPRQ	1899	1909	72
WSDDQ	AVFTFVY	DTIQL	2145	2151	80
LLVHK	LIFQYV	EEKES	2201	2206	54
KMLEE	FSLVV	HHCRL	2229	2233	9
LFSSS	AAFAKFEITLFLSAY	YPSVP	2273	2287	51
TSQDD	IATIL	SKVPL	2309	2313	18
Variant protein TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
ETGEN	LLLIQ	NKKLE	117	121	12
ATSHN	IVYCGGVL	DKQIT	698	705	8
LTKSH	TVVIGF	GPSEL	795	800	54
AGTSE	TILYTC	RQDDM	930	935	13
RPMDK	TVVFV	DNHVE	968	972	88
LKNDK	TIVFS	ENHKN	1101	1105	7
RPMDK	TVLFT	DNYSD	1180	1184	15
KGQLD	CVITL	HKDQD	1407	1411	14
LNSEE	WFAAAC	KKELK	1524	1529	12
GKTGE	FLAFQT	VHLPP	1597	1602	6
ITIRE	FFILLQVHILI	QKPRQ	1899	1909	72
WSDDQ	AVFTFVY	DTIQL	2145	2151	80
LLVHK	LIFQYV	EEKES	2201	2206	54
KMLEE	FSLVV	HHCRL	2229	2233	9
LFSSS	AAFAKFEITLFLSAY	YPSVP	2273	2287	51
TSQDD	IATIL	SKVPL	2309	2313	18

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		29	5452
Wild type		29	5452

WALTZ regions in wild type and variant
Wild type WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
TETGE	NLLLIQ	NKKLE	116	121	56
QMQQK	EFSIIE	HTRER	151	156	18
KHAND	QTVIFS	DENQM	167	172	59
DSRMK	KEVNFS	VDQNT	223	228	34
RESKG	NDITIY	GNDFM	335	340	12
YGNDF	MDLTFN	HTLQI	345	350	11
SIQGC	KTVFYS	SCNDA	452	457	43
KNLLK	HDSNYA	KMYCN	481	486	38
DITKS	HTVAID	NQIFK	516	521	6
NTVSW	EQSLFS	TTKPL	718	723	10
EMTES	HTVFID	YQEKE	984	989	24
IRPMD	KTVLFT	DNYSD	1179	1184	16
EVTDS	HTVFID	CQATE	1196	1201	24
LHTEQ	KQQLFA	ATNRT	1256	1261	64
YCPVQ	NDLAYA	NDFAS	1363	1368	35
YANDF	ASEYYL	ESEGQ	1372	1377	18
PLPKK	GQSSIN	KEEVI	1482	1487	7
KAGNK	SLNIIE	NSSAP	1500	1505	9
PKILN	SEEWFA	AACKK	1521	1526	10
ATEIH	NINIIS	SNAKD	1633	1638	88
TEEKA	LIETYQ	KEISP	1764	1769	11
YVYRP	KIQIYR	EDCEA	1942	1947	11
DKELK	AFGIYL	NKIKS	1992	1997	91
WSDDQ	AVFTFV	YDTIQ	2145	2150	34
FVYDT	IQLTIT	FEESV	2154	2159	10
RYRKI	VDVNFQ	SLLDE	2178	2183	80
LLVHK	LIFQYV	EEKES	2201	2206	17
FEITL	FLSAYY	PSVPL	2283	2288	6
LSKVP	LENNYL	KNVVK	2318	2323	25
Variant protein WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
TETGE	NLLLIQ	NKKLE	116	121	56
QMQQK	EFSIIE	HTRER	151	156	18
KHAND	QTVIFS	DENQV	167	172	59
DSRMK	KEVNFS	VDQNT	223	228	34
RESKG	NDITIY	GNDFM	335	340	12
YGNDF	MDLTFN	HTLQI	345	350	11
SIQGC	KTVFYS	SCNDA	452	457	43
KNLLK	HDSNYA	KMYCN	481	486	38
DITKS	HTVAID	NQIFK	516	521	6
NTVSW	EQSLFS	TTKPL	718	723	10
EMTES	HTVFID	YQEKE	984	989	24
IRPMD	KTVLFT	DNYSD	1179	1184	16
EVTDS	HTVFID	CQATE	1196	1201	24
LHTEQ	KQQLFA	ATNRT	1256	1261	64
YCPVQ	NDLAYA	NDFAS	1363	1368	35
YANDF	ASEYYL	ESEGQ	1372	1377	18
PLPKK	GQSSIN	KEEVI	1482	1487	7
KAGNK	SLNIIE	NSSAP	1500	1505	9
PKILN	SEEWFA	AACKK	1521	1526	10
ATEIH	NINIIS	SNAKD	1633	1638	88
TEEKA	LIETYQ	KEISP	1764	1769	11
YVYRP	KIQIYR	EDCEA	1942	1947	11
DKELK	AFGIYL	NKIKS	1992	1997	91
WSDDQ	AVFTFV	YDTIQ	2145	2150	34
FVYDT	IQLTIT	FEESV	2154	2159	10
RYRKI	VDVNFQ	SLLDE	2178	2183	80
LLVHK	LIFQYV	EEKES	2201	2206	17
FEITL	FLSAYY	PSVPL	2283	2288	6
LSKVP	LENNYL	KNVVK	2318	2323	25

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		36	18713
Wild type		37	18760

LIMBO regions in wild type and variant
Wild type LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
RRHSS	ILKPPRSP	LQDLR	26	33	100
MVPSQ	LQLLPPGF	KRFSC	93	100	20
TETGE	NLLLIQNKK	LEDNY	116	124	71
IFSDE	NQMDLTSS	HTVMI	175	182	16
VMITK	GLLDNPIS	EKSTK	190	197	56
FNDFI	KRLKTGKC	SAFPD	246	253	7
PDKEN	FEIPIYSK	EPNSA	265	272	82
ENNSN	ITRLFREK	DDGMN	296	303	10
TFNHT	LQILPATG	NFSEI	353	360	93
NSADK	IHITRSHI	MGAET	409	416	48
MREEK	NLLKHDSN	YAKMY	477	484	90
APTPE	KEMMLQNLMTTSED	GKMNV	542	555	57
KDKDW	VLKILPYL	DKDSP	671	678	100
TKSHT	VVIGFGPS	ELQEL	796	803	68
PKEKQ	NVKIWGRK	SVGGP	870	877	100
TESHT	VFIDYQEK	ERTDR	986	993	17
TDRPN	FELSQRKS	LGTPT	1001	1008	82
KLKND	KTIVFSEN	HKNDM	1100	1107	30
LAGAS	KTILYSCG	QDDME	1141	1148	23
LLPNE	IAIRPMDK	TVLFT	1172	1179	72
LAVGN	KIVLHTEQ	KQQLF	1248	1255	6
TNRTT	NEIIKFHS	AAMDE	1268	1275	77
AAMDE	KVIGKVVD	QACTL	1281	1288	16
DFASE	YYLESEGQ	PLSAP	1375	1382	99
YVDDI	YVIPQPHF	STDQP	1464	1471	100
AAACK	KELKENIQTTNYNT	ALDFH	1531	1544	42
LAFQT	VHLPPLPE	QLLEL	1603	1610	69
LPEQL	LELGNKAH	NDMHI	1613	1620	31
RCSLG	IFLPRLPN	KRNCS	1678	1685	100
EEKAL	IETYQKEISPYEN	KMGKT	1765	1777	35
KKIRK	NEIKFSDT	TQDRE	1806	1813	21
KSANS	VLIKNLSR	TPSSC	1835	1842	69
ITIRE	FFILLQVH	ILIQK	1899	1906	96
SNQDK	LLVDINKN	LWEKM	1970	1977	23
LKAFG	IYLNKIKS	CFTKM	1995	2002	65
SLSEW	DVVEWSDD	QAVFT	2136	2143	100
GEEIE	YLKRWGPN	YNLMN	2245	2252	100
Variant protein LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
RRHSS	ILKPPRSP	LQDLR	26	33	100
MVPSQ	LQLLPPGF	KRFSC	93	100	20
TETGE	NLLLIQNKK	LEDNY	116	124	71
VMITK	GLLDNPIS	EKSTK	190	197	66
FNDFI	KRLKTGKC	SAFPD	246	253	7
PDKEN	FEIPIYSK	EPNSA	265	272	82
ENNSN	ITRLFREK	DDGMN	296	303	10
TFNHT	LQILPATG	NFSEI	353	360	93
NSADK	IHITRSHI	MGAET	409	416	48
MREEK	NLLKHDSN	YAKMY	477	484	90
APTPE	KEMMLQNLMTTSED	GKMNV	542	555	57
KDKDW	VLKILPYL	DKDSP	671	678	100
TKSHT	VVIGFGPS	ELQEL	796	803	68
PKEKQ	NVKIWGRK	SVGGP	870	877	100
TESHT	VFIDYQEK	ERTDR	986	993	17
TDRPN	FELSQRKS	LGTPT	1001	1008	82
KLKND	KTIVFSEN	HKNDM	1100	1107	30
LAGAS	KTILYSCG	QDDME	1141	1148	23
LLPNE	IAIRPMDK	TVLFT	1172	1179	72
LAVGN	KIVLHTEQ	KQQLF	1248	1255	6
TNRTT	NEIIKFHS	AAMDE	1268	1275	77
AAMDE	KVIGKVVD	QACTL	1281	1288	16
DFASE	YYLESEGQ	PLSAP	1375	1382	99
YVDDI	YVIPQPHF	STDQP	1464	1471	100
AAACK	KELKENIQTTNYNT	ALDFH	1531	1544	42
LAFQT	VHLPPLPE	QLLEL	1603	1610	69
LPEQL	LELGNKAH	NDMHI	1613	1620	31
RCSLG	IFLPRLPN	KRNCS	1678	1685	100
EEKAL	IETYQKEISPYEN	KMGKT	1765	1777	35
KKIRK	NEIKFSDT	TQDRE	1806	1813	21
KSANS	VLIKNLSR	TPSSC	1835	1842	69
ITIRE	FFILLQVH	ILIQK	1899	1906	96
SNQDK	LLVDINKN	LWEKM	1970	1977	23
LKAFG	IYLNKIKS	CFTKM	1995	2002	65
SLSEW	DVVEWSDD	QAVFT	2136	2143	100
GEEIE	YLKRWGPN	YNLMN	2245	2252	100

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 CASC5_HUMAN

11 mutations listed

Variant	UniProt ID	Mutation	Disease	Mutation Type	dTANGO	dWALTZ	dLIMBO	ddG
VAR_026428	CASC5_HUMAN	R43T	-	Polymorphism	-1	0	0	N.A.
VAR_026429	CASC5_HUMAN	T70A	-	Polymorphism	0	0	0	N.A.
VAR_026430	CASC5_HUMAN	T113A	-	Polymorphism	0	-1	0	N.A.
VAR_026432	CASC5_HUMAN	R936G	-	Polymorphism	-67	1	0	N.A.
VAR_026431	CASC5_HUMAN	A486S	-	Polymorphism	0	-79	0	N.A.
VAR_026433	CASC5_HUMAN	K1285E	-	Polymorphism	-4	0	-1	N.A.
VAR_026434	CASC5_HUMAN	T1473A	-	Polymorphism	0	0	0	N.A.
VAR_061568	CASC5_HUMAN	M177V	-	Polymorphism	0	0	-47	N.A.
VAR_054342	CASC5_HUMAN	M598T	-	Polymorphism	0	0	44	N.A.
VAR_061569	CASC5_HUMAN	L1190V	-	Polymorphism	0	0	0	N.A.
VAR_061570	CASC5_HUMAN	C2338Y	-	Polymorphism	0	4	0	N.A.

Short stretch summary of VAR_061568
Predictor	Predicted regions overview	Comparison to WT	Stretches in variant	Stretches in WT
Tango		0 No change	16	16
Waltz		0 No change	29	29
Limbo		-47 No change	36	37
Domain composition of CASC5_HUMAN
Database	Domain composition	Residue details