{ "domains": { "Source": "Rogers et al., 2021", "URL": "https://aquaria.app/Q03426/1kvk?zenodo.3632187.V377I.domains", "Description": "Shows V377I and CATH domain assignments for mouse mevalonate kinase (UniProt Q9R008).", "Sequence_hash": "36c059d55ebd6dcecc4dbdd104bd23c5", "Features": [ {"Residues": ["1-4"], "Name": "No domain assignment; Identical in mouse and rat", "Color": "#989898"}, {"Residue": 5, "Name": "No domain assignment; Different in mouse and rat", "Description": "A>V substitution (mouse > rat)", "Color": "#989898"}, {"Residue": 6, "Name": "No domain assignment; Identical in mouse and rat", "Description": "A>V substitution (mouse > rat)", "Color": "#989898"}, {"Residues": ["7-30"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 31, "Name": "RPS5 domain; Different in mouse and rat", "Description": "A>V substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["32-39"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 40, "Name": "RPS5 domain; Different in mouse and rat", "Description": "L>V substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["41-50"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 51, "Name": "RPS5 domain; Different in mouse and rat", "Description": "V>L substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["52-55"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 56, "Name": "RPS5 domain; Different in mouse and rat", "Description": "I>V substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["57-64"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residues": ["65-66"], "Name": "RPS5 domain; Different in mouse and rat", "Description": "GM>AT substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["67-68"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 69, "Name": "RPS5 domain; Different in mouse and rat", "Description": "R>L substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["70-72"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 73, "Name": "RPS5 domain; S>G substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["74-80"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 81, "Name": "RPS5 domain; S>P substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["82-93"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residues": ["94-96"], "Name": "RPS5 domain; Different in mouse and rat", "Description": "MGD>VAG substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["97-100"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residues": ["101-102"], "Name": "RPS5 domain; Different in mouse and rat", "Description": "RA>CV substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["103-106"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residues": ["107-108"], "Name": "RPS5 domain; Different in mouse and rat", "Description": "MA>LS substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["109-130"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residues": ["131-132"], "Name": "RPS5 domain; Different in mouse and rat", "Description": "MV>IM substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["133-152"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 153, "Name": "RPS5 domain; Different in mouse and rat", "Description": "L>V substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["154-164"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 165, "Name": "RPS5 domain; Different in mouse and rat", "Description": "S>T substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["166-170"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residues": ["171-172"], "Name": "RPS5 domain; Different in mouse and rat", "Description": "GV>RG substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residue": 173, "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residues": ["174-176"], "Name": "RPS5 domain; Different in mouse and rat", "Description": "VSR>IGS substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["177-189"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 190, "Name": "RPS5 domain; Different in mouse and rat", "Description": "F>Y substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["191-205"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 206, "Name": "RPS5 domain; Different in mouse and rat", "Description": "A>S substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["207-215"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 216, "Name": "RPS5 domain; Different in mouse and rat", "Description": "F>Y substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["217-219"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 220, "Name": "RPS5 domain; Different in mouse and rat", "Description": "T>K substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["221-225"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 226, "Name": "RPS5 domain; Different in mouse and rat", "Description": "S>R substitution (mouse > rat)", "Color": "#4EAEE6"}, {"Residues": ["227-228"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 229, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "S>A substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["230-248"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 249, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "A>G substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["250-254"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 255, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "T>I substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["256-260"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 261, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "V>M substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["262-282"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 283, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "V>A substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["284-297"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 298, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "I>M substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["299-312"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 313, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "N>A substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["314-349"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 350, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "Q>R substitution (mouse > rat)", "Color": "#E48500"}, {"Residue": 351, "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 352, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "T>K substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["353-361"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residue": 362, "Name": "GHMP kinase, C-terminal domain; Different in mouse and rat", "Description": "S>G substitution (mouse > rat)", "Color": "#E48500"}, {"Residues": ["363-374"], "Name": "GHMP kinase, C-terminal domain; Identical in mouse and rat", "Color": "#E48500"}, {"Residues": ["375-376"], "Name": "RPS5 domain; Identical in mouse and rat", "Color": "#4EAEE6"}, {"Residue": 377, "Name": "V377I", "Color": "#FF1900", "Description": "V337I is the most frequent pathogenic variant in HIDS. This position normally has a valine in human, mouse, and rat. Part of the RPS5 domain."}, {"Residue": 378, "Name": "No domain assignment; Identical in mouse and rat", "Color": "#989898"}, {"Residue": 379, "Name": "No domain assignment; Different in mouse and rat", "Description": "T>M substitution (mouse > rat)", "Color": "#989898"}, {"Residues": ["380-382"], "Name": "No domain assignment; Identical in mouse and rat", "Color": "#989898"}, {"Residues": ["383-386"], "Name": "No domain assignment; Different in mouse and rat", "Description": "AAVG>TSIE substitution (mouse > rat)", "Color": "#989898"}, {"Residues": ["387-395"], "Name": "No domain assignment; Identical in mouse and rat", "Color": "#989898"} ] }, "human": { "Source": "Rogers et al., 2021", "URL": "https://aquaria.app/Q03426/1kvk?zenodo.3632187.MVK", "Description": "V377I mutation for human mevalonate kinase (UniProt Q03426).", "Sequence_hash": "bfdebcdd98aebb383eab651f93a3325f", "Color": "FF1900", "Features": [ {"Residue": 377, "Name": "V377I", "Description": "V377I is most frequent pathogenic variant in HIDS."} ] }, "mouse": { "Source": "Rogers et al., 2021", "URL": "https://aquaria.app/Q03426/1kvk?zenodo.3632187.MVK", "Description": "V377I mutation for mouse mevalonate kinase (UniProt Q9R008).", "Sequence_hash": "36c059d55ebd6dcecc4dbdd104bd23c5", "Color": "FF1900", "Features": [ {"Residue": 377, "Name": "V377I", "Description": "V377I is most frequent pathogenic variant in HIDS."} ] }, "rat": { "Source": "Rogers et al., 2021", "URL": "https://aquaria.app/Q03426/1kvk?zenodo.3632187.MVK", "Description": "V377I mutation for rat mevalonate kinase (UniProt P17256).", "Sequence_hash": "cddf704917d470c4615c99c99c9b7357", "Color": "FF1900", "Features": [ {"Residue": 377, "Name": "V377I", "Description": "V377I is most frequent pathogenic variant in HIDS."} ] }, "mouse_vs_rat": { "Source": "Rogers et al., 2021", "URL": "https://aquaria.app/Q03426/1kvk?zenodo.3632187.MVK", "Description": "V377I mutation for human mevalonate kinase (UniProt Q03426).", "Sequence_hash": "36c059d55ebd6dcecc4dbdd104bd23c5", "Features": [ {"Residues": ["1-4"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 5, "Name": "Different in mouse and rat", "Description": "A>V substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["6-30"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 31, "Name": "Different in mouse and rat", "Description": "A>V substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["32-39"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 40, "Name": "Different in mouse and rat", "Description": "L>V substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["41-50"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 51, "Name": "Different in mouse and rat", "Description": "V>L substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["52-55"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 56, "Name": "Different in mouse and rat", "Description": "I>V substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["57-64"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["65-66"], "Name": "Different in mouse and rat", "Description": "GM>AT substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["67-68"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 69, "Name": "Different in mouse and rat", "Description": "R>L substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["70-72"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 73, "Name": "S>G substitution (mouse > rat)", "Color": "#BABABA"}, {"Residues": ["74-80"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 81, "Name": "S>P substitution (mouse > rat)", "Color": "#BABABA"}, {"Residues": ["82-93"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["94-96"], "Name": "Different in mouse and rat", "Description": "MGD>VAG substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["97-100"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["101-102"], "Name": "Different in mouse and rat", "Description": "RA>CV substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["103-106"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["107-108"], "Name": "Different in mouse and rat", "Description": "MA>LS substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["109-130"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["131-132"], "Name": "Different in mouse and rat", "Description": "MV>IM substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["133-152"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 153, "Name": "Different in mouse and rat", "Description": "L>V substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["154-164"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 165, "Name": "Different in mouse and rat", "Description": "S>T substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["166-170"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["171-172"], "Name": "Different in mouse and rat", "Description": "GV>RG substitution (mouse > rat)", "Color": "#424242"}, {"Residue": 173, "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["174-176"], "Name": "Different in mouse and rat", "Description": "VSR>IGS substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["177-189"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 190, "Name": "Different in mouse and rat", "Description": "F>Y substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["191-205"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 206, "Name": "Different in mouse and rat", "Description": "A>S substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["207-215"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 216, "Name": "Different in mouse and rat", "Description": "F>Y substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["217-219"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 220, "Name": "Different in mouse and rat", "Description": "T>K substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["221-225"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 226, "Name": "Different in mouse and rat", "Description": "S>R substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["227-228"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 229, "Name": "Different in mouse and rat", "Description": "S>A substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["230-248"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 249, "Name": "Different in mouse and rat", "Description": "A>G substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["250-254"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 255, "Name": "Different in mouse and rat", "Description": "T>I substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["256-260"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 261, "Name": "Different in mouse and rat", "Description": "V>M substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["262-282"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 283, "Name": "Different in mouse and rat", "Description": "V>A substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["284-297"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 298, "Name": "Different in mouse and rat", "Description": "I>M substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["299-312"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 313, "Name": "Different in mouse and rat", "Description": "N>A substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["314-349"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 350, "Name": "Different in mouse and rat", "Description": "Q>R substitution (mouse > rat)", "Color": "#424242"}, {"Residue": 351, "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 352, "Name": "Different in mouse and rat", "Description": "T>K substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["353-361"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 362, "Name": "Different in mouse and rat", "Description": "S>G substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["363-376"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 377, "Name": "V377I", "Color": "#FF1900", "Description": "Disrupts function; Identical in mouse and rat"}, {"Residue": 378, "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residue": 379, "Name": "Different in mouse and rat", "Description": "T>M substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["380-382"], "Name": "Identical in mouse and rat", "Color": "#BABABA"}, {"Residues": ["383-386"], "Name": "Different in mouse and rat", "Description": "AAVG>TSIE substitution (mouse > rat)", "Color": "#424242"}, {"Residues": ["387-395"], "Name": "Identical in mouse and rat", "Color": "#BABABA"} ] } }