Compact overview of VAR_016359 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProt ID | Gene | Mutation | Mutation type | Disease | OMIM | dbSNP | |||||||
1B13_HUMAN | HLA-B | Y183C | Polymorphism | - | No OMIM entry | No dbSNP entry |
Short stretch summary of VAR_016359 | ||||
---|---|---|---|---|
Predictor | Predicted regions overview | Comparison to WT | Stretches in variant | Stretches in WT |
Tango | 0 No change | 5 | 5 | |
Waltz | -1 No change | 2 | 2 | |
Limbo | 0 No change | 4 | 4 | |
Domain composition of 1B13_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) |
Structure stability summary of VAR_016359 | ||||
---|---|---|---|---|
Variant | Stability change | Effect | Structure | Stability frequency histogram |
Y183C | 2.29 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 | 3405 | |
Wild type | 5 | 3405 |
TANGO regions in wild type and variant | |||||
---|---|---|---|---|---|
Wild type TANGO regions | |||||
N-term gatekeepers | TANGO region | C-term gatekeepers | Start | End | Score |
VTAPR | TLLLLLWGAVALT | ETWAG | 8 | 20 | 88 |
RGEPR | FITVGYV | DDTQF | 46 | 52 | 71 |
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 |
VTAPR | TLLLLLWGAVALT | ETWAG | 8 | 20 | 88 |
RGEPR | FITVGYV | DDTQF | 46 | 52 | 71 |
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 | |
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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 | 541 | |
Wild type | 2 | 542 |
WALTZ regions in wild type and variant | |||||
---|---|---|---|---|---|
Wild type WALTZ regions | |||||
N-term gatekeepers | WALTZ region | C-term gatekeepers | Start | End | Score |
ENLRT | ALRYYN | QSEAG | 105 | 110 | 48 |
LLRGH | NQLAYD | GKDYI | 138 | 143 | 40 |
Variant protein WALTZ regions | |||||
N-term gatekeepers | WALTZ region | C-term gatekeepers | Start | End | Score |
ENLRT | ALRYYN | QSEAG | 105 | 110 | 48 |
LLRGH | NQLAYD | GKDYI | 138 | 143 | 40 |
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 | 4 | 2686 | |
Wild type | 4 | 2686 |
LIMBO regions in wild type and variant | |||||
---|---|---|---|---|---|
Wild type LIMBO regions | |||||
N-term gatekeepers | WALTZ region | C-term gatekeepers | Start | End | Score |
APRTL | LLLLWGAV | ALTET | 10 | 17 | 100 |
ECVEW | LRRYLENG | KETLQ | 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 |
APRTL | LLLLWGAV | ALTET | 10 | 17 | 100 |
ECVEW | LRRYLENG | KETLQ | 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. |
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
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 1B13_HUMAN
10 mutations listed
Variant | UniProt ID | Mutation | Disease | Mutation Type | dTANGO | dWALTZ | dLIMBO | ddG |
---|---|---|---|---|---|---|---|---|
VAR_061398 | 1B13_HUMAN | C349Y | - | Polymorphism | 0 | 27 | 0 | N.A. |
VAR_061397 | 1B13_HUMAN | C349S | - | Polymorphism | 0 | 0 | 0 | N.A. |
VAR_056330 | 1B13_HUMAN | V306I | - | Polymorphism | 0 | 0 | 0 | N.A. |
VAR_016363 | 1B13_HUMAN | E187L | - | Polymorphism | 1 | 1 | 0 | -0.62 |
VAR_056331 | 1B13_HUMAN | A329T | - | Polymorphism | 3 | 0 | 0 | N.A. |
VAR_016362 | 1B13_HUMAN | L169R | - | Polymorphism | 1 | 0 | 0 | 0.3 |
VAR_016359 | 1B13_HUMAN | Y183C | - | Polymorphism | 0 | -1 | 0 | 2.29 |
VAR_016360 | 1B13_HUMAN | N138D | - | Polymorphism | 0 | -207 | -4 | 0.44 |
VAR_016361 | 1B13_HUMAN | L140S | - | Polymorphism | 0 | -108 | 0 | -0.76 |
VAR_016358 | 1B13_HUMAN | T121R | - | Polymorphism | 1 | 0 | 0 | -1.12 |