Variant VAR_056322 | SNPeffect 4.0

Phenotypic summary of VAR_056322

Compact overview of VAR_056322
UniProt ID	Gene	Mutation	Mutation type	Disease	OMIM	dbSNP
1B08_HUMAN	HLA-B	V9L	Polymorphism	-	No OMIM entry	rs1050462

Short stretch summary of VAR_056322
Predictor	Predicted regions overview	Comparison to WT	Stretches in variant	Stretches in WT
Tango		-16 No change	5	5
Waltz		0 No change	1	1
Limbo		0 No change	5	5
Domain composition of 1B08_HUMAN
Database	Domain composition	Residue details
PFAM		MHC_I (Residues 25-203), C1-set (Residues 210-295), MHC_I_C (Residues 336-362)
SMART		IGc1 (Residues 222-293)

TANGO aggregation

Graphical comparison of TANGO regions in variant and wild type
Protein	Predicted regions overview	TANGO regions	Total score
Variant		5	3116
Wild type		5	3132

TANGO regions in wild type and variant
Wild type TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
VMAPR	TVLLLLSAALALT	ETWAG	8	20	87
RGEPR	FISVGYV	DDTQF	46	52	36
FYPAE	ITLTW	QRDGE	237	241	13
RTFQK	WAAVV	VPSGE	268	272	10
QSTVP	IVGIVAGLAVLAVVVIGAVVAAVM	CRRKS	308	331	68
Variant protein TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
VMAPR	TLLLLLSAALALT	ETWAG	8	20	85
RGEPR	FISVGYV	DDTQF	46	52	36
FYPAE	ITLTW	QRDGE	237	241	13
RTFQK	WAAVV	VPSGE	268	272	10
QSTVP	IVGIVAGLAVLAVVVIGAVVAAVM	CRRKS	308	331	68

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		1	262
Wild type		1	262

WALTZ regions in wild type and variant
Wild type WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
LLRGH	NQYAYD	GKDYI	138	143	40
Variant protein WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
LLRGH	NQYAYD	GKDYI	138	143	40

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		5	2866
Wild type		5	2867

LIMBO regions in wild type and variant
Wild type LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
MAPRT	VLLLLSAA	LALTE	9	16	99
DRNTQ	IFKTNT	QTDRE	90	95	34
TCVEW	LRRYLENG	KDTLE	192	199	87
FYPAE	ITLTWQRD	GEDQT	237	244	46
GLPKP	LTLRWEPS	SQSTV	294	301	100
Variant protein LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
MAPRT	LLLLLSAA	LALTE	9	16	100
DRNTQ	IFKTNT	QTDRE	90	95	34
TCVEW	LRRYLENG	KDTLE	192	199	87
FYPAE	ITLTWQRD	GEDQT	237	244	46
GLPKP	LTLRWEPS	SQSTV	294	301	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	outside

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 1B08_HUMAN

27 mutations listed

Variant	UniProt ID	Mutation	Disease	Mutation Type	dTANGO	dWALTZ	dLIMBO	ddG
VAR_061396	1B08_HUMAN	C349Y	-	Polymorphism	0	27	0	N.A.
VAR_061394	1B08_HUMAN	S48T	-	Polymorphism	247	0	0	0.48
VAR_061395	1B08_HUMAN	C349S	-	Polymorphism	0	0	0	N.A.
VAR_061393	1B08_HUMAN	S48P	-	Polymorphism	-253	0	0	4.6
VAR_061392	1B08_HUMAN	S48A	-	Polymorphism	288	0	0	1.15
VAR_059475	1B08_HUMAN	D98Y	-	Polymorphism	0	1	0	-4.22
VAR_059474	1B08_HUMAN	N87K	-	Polymorphism	1	-4	468	-0.16
VAR_056328	1B08_HUMAN	V306I	-	Polymorphism	0	0	0	N.A.
VAR_056329	1B08_HUMAN	A329T	-	Polymorphism	3	0	0	N.A.
VAR_056326	1B08_HUMAN	H137Y	-	Polymorphism	0	0	-192	-0.72
VAR_056327	1B08_HUMAN	R155S	-	Polymorphism	-1	0	7	0.6
VAR_056325	1B08_HUMAN	T97A	-	Polymorphism	0	0	0	-0.14
VAR_056321	1B08_HUMAN	M4T	-	Polymorphism	0	0	0	N.A.
VAR_056324	1B08_HUMAN	A65T	-	Polymorphism	0	0	0	N.A.
VAR_056323	1B08_HUMAN	L17V	-	Polymorphism	20	0	0	N.A.
VAR_016520	1B08_HUMAN	Y140D	-	Polymorphism	0	-239	0	4.93
VAR_056322	1B08_HUMAN	V9L	-	Polymorphism	-16	0	0	N.A.
VAR_016510	1B08_HUMAN	D180L	-	Polymorphism	0	0	0	-1.91
VAR_016511	1B08_HUMAN	D180R	-	Polymorphism	1	0	0	-0.81
VAR_016508	1B08_HUMAN	N138D	-	Polymorphism	0	-208	117	2.42
VAR_016509	1B08_HUMAN	V176E	-	Polymorphism	0	0	0	1.53
VAR_016506	1B08_HUMAN	S121R	-	Polymorphism	1	-1	-138	-2.41
VAR_016507	1B08_HUMAN	S121T	-	Polymorphism	0	-1	-173	0.08
VAR_016503	1B08_HUMAN	F91S	-	Polymorphism	0	-6	-204	3.63
VAR_016504	1B08_HUMAN	S101N	-	Polymorphism	0	0	-153	-0.58