Compact overview of VAR_016411 | |||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UniProt ID | Gene | Mutation | Mutation type | Disease | OMIM | dbSNP | |||||||
1B38_HUMAN | HLA-B | S35A | Polymorphism | - | No OMIM entry | rs1131170 |
Short stretch summary of VAR_016411 | ||||
---|---|---|---|---|
Predictor | Predicted regions overview | Comparison to WT | Stretches in variant | Stretches in WT |
Tango | 53 Increased | 6 | 5 | |
Waltz | 1 No change | 2 | 2 | |
Limbo | 0 No change | 5 | 5 | |
Domain composition of 1B38_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_016411 | ||||
---|---|---|---|---|
Variant | Stability change | Effect | Structure | Stability frequency histogram |
S35A | -1.03 kcal/mol | Enhanced stability |
TANGO aggregation
Graphical comparison of TANGO regions in variant and wild type | |||
---|---|---|---|
Protein | Predicted regions overview | TANGO regions | Total score |
Variant | 6 | 3193 | |
Wild type | 5 | 3141 |
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 | TVLLLLSAALALT | ETWAG | 8 | 20 | 87 |
SHSMR | YFYTAV | SRPGR | 31 | 36 | 10 |
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 | |
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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 | 866 | |
Wild type | 2 | 865 |
WALTZ regions in wild type and variant | |||||
---|---|---|---|---|---|
Wild type WALTZ regions | |||||
N-term gatekeepers | WALTZ region | C-term gatekeepers | Start | End | Score |
ENLRI | ALRYYN | QSEAG | 105 | 110 | 48 |
LLRGH | NQFAYD | GKDYI | 138 | 143 | 94 |
Variant protein WALTZ regions | |||||
N-term gatekeepers | WALTZ region | C-term gatekeepers | Start | End | Score |
ENLRI | ALRYYN | QSEAG | 105 | 110 | 48 |
LLRGH | NQFAYD | GKDYI | 138 | 143 | 94 |
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 | 3388 | |
Wild type | 5 | 3388 |
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 |
TYREN | LRIALRYYNQ | SEAGS | 102 | 111 | 72 |
TCVEW | 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 |
MAPRT | VLLLLSAA | LALTE | 9 | 16 | 99 |
TYREN | LRIALRYYNQ | SEAGS | 102 | 111 | 72 |
TCVEW | 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 1B38_HUMAN
22 mutations listed
Variant | UniProt ID | Mutation | Disease | Mutation Type | dTANGO | dWALTZ | dLIMBO | ddG |
---|---|---|---|---|---|---|---|---|
VAR_061408 | 1B38_HUMAN | S48P | - | Polymorphism | -253 | 0 | 0 | 3.83 |
VAR_061407 | 1B38_HUMAN | S48A | - | Polymorphism | 288 | 0 | 0 | 0.02 |
VAR_061409 | 1B38_HUMAN | S48T | - | Polymorphism | 247 | 0 | 0 | -0.46 |
VAR_056353 | 1B38_HUMAN | V306I | - | Polymorphism | 0 | 0 | 0 | N.A. |
VAR_056354 | 1B38_HUMAN | A329T | - | Polymorphism | 3 | 0 | 0 | N.A. |
VAR_059478 | 1B38_HUMAN | N87K | - | Polymorphism | 2 | 0 | 1 | -0.4 |
VAR_056350 | 1B38_HUMAN | V36M | - | Polymorphism | -8 | 0 | 0 | -0.79 |
VAR_056352 | 1B38_HUMAN | N87D | - | Polymorphism | 0 | 0 | 0 | 2.36 |
VAR_016418 | 1B38_HUMAN | N101S | - | Polymorphism | 0 | 0 | -14 | 0.35 |
VAR_016420 | 1B38_HUMAN | T187M | - | Polymorphism | 0 | 0 | 0 | -0.67 |
VAR_056348 | 1B38_HUMAN | V9L | - | Polymorphism | -16 | 0 | 0 | N.A. |
VAR_056349 | 1B38_HUMAN | L17V | - | Polymorphism | 20 | 0 | 0 | N.A. |
VAR_056351 | 1B38_HUMAN | A65T | - | Polymorphism | 0 | 0 | 0 | 0.13 |
VAR_016419 | 1B38_HUMAN | I104T | - | Polymorphism | 0 | 1 | -681 | 1.39 |
VAR_016417 | 1B38_HUMAN | Y98D | - | Polymorphism | 0 | -6 | 0 | 1.57 |
VAR_056347 | 1B38_HUMAN | M4T | - | Polymorphism | 0 | 0 | 0 | N.A. |
VAR_016413 | 1B38_HUMAN | E82G | - | Polymorphism | 0 | 0 | 0 | 2.2 |
VAR_016414 | 1B38_HUMAN | N87E | - | Polymorphism | 0 | 0 | 0 | 1.09 |
VAR_016415 | 1B38_HUMAN | C91F | - | Polymorphism | 0 | 6 | 0 | -1.31 |
VAR_016416 | 1B38_HUMAN | C91S | - | Polymorphism | 0 | 0 | 0 | 0.84 |
VAR_016412 | 1B38_HUMAN | E69T | - | Polymorphism | 0 | 0 | 0 | -0.59 |
VAR_016411 | 1B38_HUMAN | S35A | - | Polymorphism | 53 | 1 | 0 | -1.03 |