Variant VAR_016727

Phenotypic summary of VAR_016727
Compact overview of VAR_016727
UniProt IDGeneMutationMutation typeDiseaseOMIMdbSNP
1A02_HUMANHLA-AH94QPolymorphism-No OMIM entryNo dbSNP entry
Short stretch summary of VAR_016727
PredictorPredicted regions overviewComparison to WTStretches in variantStretches in WT
Tango 0
No change
66
Waltz 0
No change
22
Limbo 0
No change
55
Domain composition of 1A02_HUMAN
DatabaseDomain compositionResidue details
PFAMMHC_I (Residues 25-203), C1-set (Residues 212-295), MHC_I_C (Residues 336-364)
SMARTIGc1 (Residues 222-293)
Structure stability summary of VAR_016727
VariantStability changeEffectStructureStability frequency histogram
H94Q-0.31 kcal/molNo effect on stability

TANGO aggregation

Graphical comparison of TANGO regions in variant and wild type
ProteinPredicted regions overviewTANGO regionsTotal score
Variant62956
Wild type62956
TANGO regions in wild type and variant
Wild type TANGO regions
N-term gatekeepersTANGO regionC-term gatekeepersStartEndScore
VMAPRTLVLLLSGALALTQTWAG82051
HSMRYFFTSVSRPGR32366
RGEPRFIAVGYVDDTQF465277
FYPAEITLTWQRDGE23724113
GTFQKWAAVVVPSGQ26827211
QPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSS30833263
Variant protein TANGO regions
N-term gatekeepersTANGO regionC-term gatekeepersStartEndScore
VMAPRTLVLLLSGALALTQTWAG82051
HSMRYFFTSVSRPGR32366
RGEPRFIAVGYVDDTQF465277
FYPAEITLTWQRDGE23724113
GTFQKWAAVVVPSGQ26827211
QPTIPIVGIIAGLVLFGAVITGAVVAAVMWRRKSS30833263
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


Molecular visualization of TANGO aggregation-prone regions

Wild type 1A02_HUMAN

Variant VAR_016727

These two molecular images show the TANGO aggregation-prone regions as red colored segments. The left image represents the wild type protein, the right represents the variant protein.
If both images are the same, it implies that the introduced variant amino acid does not alter the TANGO aggregation tendency. In any other case, the images allow structural interpretation of gained or lost aggregation-prone regions due to the variant amino acid.
The structural location of the variant residue is colored in yellow. Click on the images to get a larger view and to download the original.

WALTZ amylogenicity

Graphical comparison of WALTZ regions in variant and wild type
ProteinPredicted regions overviewWALTZ regionsTotal score
Variant2187
Wild type2187
WALTZ regions in wild type and variant
Wild type WALTZ regions
N-term gatekeepersWALTZ regionC-term gatekeepersStartEndScore
FLRGYHQYAYDGKDYI13814322
TLRCWALSFYPAEITL2292346
Variant protein WALTZ regions
N-term gatekeepersWALTZ regionC-term gatekeepersStartEndScore
FLRGYHQYAYDGKDYI13814322
TLRCWALSFYPAEITL2292346
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


Molecular visualization of WALTZ amylogenic regions

Wild type 1A02_HUMAN

Variant VAR_016727

These two molecular images show the WALTZ amylogenic regions as blue colored segments. The left image represents the wild type protein, the right represents the variant protein.
If both images are the same, it implies that the introduced variant amino acid does not alter the WALTZ amyloid-forming tendency. In any other case, the images allow structural interpretation of gained or lost amylogenic regions due to the variant amino acid.
The structural location of the variant residue is colored in yellow. Click on the images to get a larger view and to download the original.

LIMBO chaperone binding

Graphical comparison of LIMBO regions in variant and wild type
ProteinPredicted regions overviewLIMBO regionsTotal score
Variant53189
Wild type53189
LIMBO regions in wild type and variant
Wild type LIMBO regions
N-term gatekeepersWALTZ regionC-term gatekeepersStartEndScore
MAPRTLVLLLSGALALTQ916100
VGSDWRFLRGYHQYAYDG13213966
TCVEWLRRYLENGKETLQ19219987
FYPAEITLTWQRDGEDQT23724446
GLPKPLTLRWEPSSQPTI29430198
Variant protein LIMBO regions
N-term gatekeepersWALTZ regionC-term gatekeepersStartEndScore
MAPRTLVLLLSGALALTQ916100
VGSDWRFLRGYHQYAYDG13213966
TCVEWLRRYLENGKETLQ19219987
FYPAEITLTWQRDGEDQT23724446
GLPKPLTLRWEPSSQPTI29430198
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


Molecular visualization of LIMBO chaperone binding regions

Wild type 1A02_HUMAN

Variant VAR_016727

These two molecular images show the LIMBO chaperone binding regions as magenta colored segments. The left image represents the wild type protein, the right represents the variant protein.
If both images are the same, it implies that the introduced variant amino acid does not alter the LIMBO chaperone binding properties. In any other case, the images allow structural interpretation of gained or lost chaperone binding regions due to the variant amino acid.
The structural location of the variant residue is colored in yellow. Click on the images to get a larger view and to download the original.

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
FeatureThis residue
Catalytic siteNo
Secondary structureHELIX
Transmembrane topologyoutside
Cellular processing
FeatureAffected by variant
Signal peptideNo
Farnesylation anchorNo
N-Myristoylation anchorNo
Geranylgeranyl transferase Type 1 anchorNo
Geranylgeranyl transferase Type 2 anchorNo
Glycosylphosphatidylinositol (GPI) anchorNo
Peroxisomal targeting signal PTS1No
Subcellular locationNo

All mutations from 1A02_HUMAN

22 mutations listed

Variant UniProt ID Mutation Disease Mutation Type dTANGO dWALTZ dLIMBO ddG
VAR_016730 1A02_HUMAN W191G - Polymorphism 0 -1 8 1.99
VAR_004350 1A02_HUMAN A260E - Polymorphism 0 0 0 1.31
VAR_004349 1A02_HUMAN T187E - Polymorphism 0 -1 0 -1.03
VAR_016728 1A02_HUMAN H98D - Polymorphism 0 0 0 1.96
VAR_016729 1A02_HUMAN E190D - Polymorphism 0 -1 0 0.41
VAR_004348 1A02_HUMAN L180Q - Polymorphism 0 1 0 1.75
VAR_016727 1A02_HUMAN H94Q - Polymorphism 0 0 0 -0.31
VAR_016726 1A02_HUMAN A65G - Polymorphism 0 0 0 0.23
VAR_004344 1A02_HUMAN M162K - Polymorphism 1 0 0 -0.28
VAR_004347 1A02_HUMAN L180W - Polymorphism 0 -1 0 -0.56
VAR_004345 1A02_HUMAN A173T - Polymorphism 0 0 0 0.3
VAR_004346 1A02_HUMAN V176E - Polymorphism 0 0 0 0.69
VAR_004337 1A02_HUMAN K90N - Polymorphism -1 0 0 -0.06
VAR_004343 1A02_HUMAN W131G - Polymorphism 0 -1 -529 -0.56
VAR_004338 1A02_HUMAN T97I - Polymorphism 0 0 0 -0.54
VAR_004339 1A02_HUMAN V119L - Polymorphism 0 0 0 -0.63
VAR_004340 1A02_HUMAN R121M - Polymorphism 0 0 1 0.57
VAR_004341 1A02_HUMAN Y123C - Polymorphism 0 0 0 2.15
VAR_004342 1A02_HUMAN Y123F - Polymorphism 0 0 0 0.22
VAR_004335 1A02_HUMAN D54N - Polymorphism 81 0 0 -0.32
VAR_004336 1A02_HUMAN Q67R - Polymorphism 1 0 786 0.48
VAR_004334 1A02_HUMAN F33Y - Polymorphism -24 -3 0 0.92
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