Variant VAR_004385 | SNPeffect 4.0

Phenotypic summary of VAR_004385

Compact overview of VAR_004385
UniProt ID	Gene	Mutation	Mutation type	Disease	OMIM	dbSNP
1A34_HUMAN	HLA-A	L312I	Polymorphism	-	No OMIM entry	No dbSNP entry

Short stretch summary of VAR_004385
Predictor	Predicted regions overview	Comparison to WT	Stretches in variant	Stretches in WT
Tango		-4 No change	4	4
Waltz		0 No change	1	1
Limbo		0 No change	4	4
Domain composition of 1A34_HUMAN
Database	Domain composition	Residue details
PFAM		MHC_I (Residues 25-203), C1-set (Residues 212-295), MHC_I_C (Residues 336-364)
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		4	2898
Wild type		4	2902

TANGO regions in wild type and variant
Wild type TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
IMAPR	TLVLLLSGALALT	QTWAG	8	20	51
RGEPR	FIAVGYV	DDTQF	46	52	77
FYPAE	ITLTW	QRDGE	237	241	13
QPTIP	IVGILAGLVLFGAVIAGAVVAAVMW	RRKSS	308	332	64
Variant protein TANGO regions
N-term gatekeepers	TANGO region	C-term gatekeepers	Start	End	Score
IMAPR	TLVLLLSGALALT	QTWAG	8	20	51
RGEPR	FIAVGYV	DDTQF	46	52	77
FYPAE	ITLTW	QRDGE	237	241	13
QPTIP	IVGIIAGLVLFGAVIAGAVVAAVMW	RRKSS	308	332	64

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	51
Wild type		1	51

WALTZ regions in wild type and variant
Wild type WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
TLRCW	ALSFYP	AEITL	229	234	6
Variant protein WALTZ regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
TLRCW	ALSFYP	AEITL	229	234	6

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		4	2659
Wild type		4	2659

LIMBO regions in wild type and variant
Wild type LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
MAPRT	LVLLLSGA	LALTQ	9	16	100
TCVEW	LRRYLENG	KETLQ	192	199	87
FYPAE	ITLTWQRD	GEDQT	237	244	46
GLPKP	LTLRWEPS	SQPTI	294	301	98
Variant protein LIMBO regions
N-term gatekeepers	WALTZ region	C-term gatekeepers	Start	End	Score
MAPRT	LVLLLSGA	LALTQ	9	16	100
TCVEW	LRRYLENG	KETLQ	192	199	87
FYPAE	ITLTWQRD	GEDQT	237	244	46
GLPKP	LTLRWEPS	SQPTI	294	301	98

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	TMhelix

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 1A34_HUMAN

10 mutations listed

Variant	UniProt ID	Mutation	Disease	Mutation Type	dTANGO	dWALTZ	dLIMBO	ddG
VAR_056290	1A34_HUMAN	I166T	-	Polymorphism	0	-1	0	1.92
VAR_004385	1A34_HUMAN	L312I	-	Polymorphism	-4	0	0	N.A.
VAR_056288	1A34_HUMAN	D101N	-	Polymorphism	0	0	0	-0.3
VAR_056289	1A34_HUMAN	N151K	-	Polymorphism	0	0	0	-0.05
VAR_004380	1A34_HUMAN	K90N	-	Polymorphism	-1	0	0	-0.08
VAR_004383	1A34_HUMAN	Q138R	-	Polymorphism	1	0	15	-0.13
VAR_004384	1A34_HUMAN	W180L	-	Polymorphism	0	1	0	1.48
VAR_004379	1A34_HUMAN	I3V	-	Polymorphism	0	0	0	N.A.
VAR_004381	1A34_HUMAN	R121I	-	Polymorphism	10	1	91	1.44
VAR_004382	1A34_HUMAN	P129S	-	Polymorphism	0	0	0	1.78