Compact overview of VAR_056307 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProt ID | Gene | Mutation | Mutation type | Disease | OMIM | dbSNP | |||||||
1A69_HUMAN | HLA-A | R89G | Polymorphism | - | No OMIM entry | rs1059459 |
Short stretch summary of VAR_056307 | ||||
---|---|---|---|---|
Predictor | Predicted regions overview | Comparison to WT | Stretches in variant | Stretches in WT |
Tango | -1 No change | 5 | 5 | |
Waltz | 0 No change | 2 | 2 | |
Limbo | 0 No change | 5 | 5 | |
Domain composition of 1A69_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) |
Structure stability summary of VAR_056307 | ||||
---|---|---|---|---|
Variant | Stability change | Effect | Structure | Stability frequency histogram |
R89G | 1.11 kcal/mol | Reduced stability |
TANGO aggregation
Graphical comparison of TANGO regions in variant and wild type | |||
---|---|---|---|
Protein | Predicted regions overview | TANGO regions | Total score |
Variant | 5 | 2930 | |
Wild type | 5 | 2931 |
TANGO regions in wild type and variant | |||||
---|---|---|---|---|---|
Wild type TANGO regions | |||||
N-term gatekeepers | TANGO region | C-term gatekeepers | Start | End | Score |
VMAPR | TLVLLLSGALALT | QTWAG | 8 | 20 | 51 |
RGEPR | FIAVGYV | DDTQF | 46 | 52 | 77 |
FYPAE | ITLTW | QRDGE | 237 | 241 | 13 |
GTFQK | WAAVV | VPSGQ | 268 | 272 | 11 |
QPTIP | IVGIIAGLVLFGAVITGAVVAAVMW | RRKSS | 308 | 332 | 63 |
Variant protein TANGO regions | |||||
N-term gatekeepers | TANGO region | C-term gatekeepers | Start | End | Score |
VMAPR | TLVLLLSGALALT | QTWAG | 8 | 20 | 51 |
RGEPR | FIAVGYV | DDTQF | 46 | 52 | 77 |
FYPAE | ITLTW | QRDGE | 237 | 241 | 13 |
GTFQK | WAAVV | VPSGQ | 268 | 272 | 10 |
QPTIP | IVGIIAGLVLFGAVITGAVVAAVMW | RRKSS | 308 | 332 | 63 |
Difference in TANGO aggregation between wild type and variant | |
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This graph plots the per-residue TANGO aggregation score difference between the wild type protein and this variant. |
TANGO aggregation profile score plot | |
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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 | 2 | 184 | |
Wild type | 2 | 184 |
WALTZ regions in wild type and variant | |||||
---|---|---|---|---|---|
Wild type WALTZ regions | |||||
N-term gatekeepers | WALTZ region | C-term gatekeepers | Start | End | Score |
FLRGY | HQYAYD | GKDYI | 138 | 143 | 22 |
TLRCW | ALSFYP | AEITL | 229 | 234 | 6 |
Variant protein WALTZ regions | |||||
N-term gatekeepers | WALTZ region | C-term gatekeepers | Start | End | Score |
FLRGY | HQYAYD | GKDYI | 138 | 143 | 22 |
TLRCW | ALSFYP | AEITL | 229 | 234 | 6 |
Difference in WALTZ amylogenicity between wild type and variant | |
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This graph plots the per-residue WALTZ amylogenic score difference between the wild type protein and this variant. |
WALTZ amylogenic profile score plot | |
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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 | 3189 | |
Wild type | 5 | 3189 |
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 |
VGSDW | RFLRGYHQ | YAYDG | 132 | 139 | 66 |
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 |
VGSDW | RFLRGYHQ | YAYDG | 132 | 139 | 66 |
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. |
LIMBO chaperone binding score plot | |
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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
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 1A69_HUMAN
3 mutations listed
Variant | UniProt ID | Mutation | Disease | Mutation Type | dTANGO | dWALTZ | dLIMBO | ddG |
---|---|---|---|---|---|---|---|---|
VAR_056308 | 1A69_HUMAN | Q94H | - | Polymorphism | 0 | 0 | 0 | -0.55 |
VAR_056307 | 1A69_HUMAN | R89G | - | Polymorphism | -1 | 0 | 0 | 1.11 |
VAR_056309 | 1A69_HUMAN | D101N | - | Polymorphism | 0 | 0 | 0 | -2.04 |