sujigwak/NVAR huggingface dataset:
UniProt ID: Q85PP0
Variant: I -> M at position 241-241
Variant annotation: in strain: Isolate SMG-7470
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MTNIRKSHPLIKIINESFIDLPAPSNISTWWNFGSLLGVCLILQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGRGMYYGSHTFSETWNVGILLLFTVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALAAVHLLFLHETGSNNPLGLTSDSDKIPFHPYYTIKDILGLLLLILMLMILVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVMALVLSILILAIVPLLHTSKQRGMMFRPLSQCLFWLLVADLLTLTWIGGQPVEYPFITIGQLASILYFFTILILMPISGMIENRLLKW
UniProt ID: Q85PP0
Variant: Y -> H at position 345-345
Variant annotation: in strain: Isolate SMG-7470
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MTNIRKSHPLIKIINESFIDLPAPSNISTWWNFGSLLGVCLILQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGRGMYYGSHTFSETWNVGILLLFTVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALAAVHLLFLHETGSNNPLGLTSDSDKIPFHPYYTIKDILGLLLLILMLMILVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVMALVLSILILAIVPLLHTSKQRGMMFRPLSQCLFWLLVADLLTLTWIGGQPVEYPFITIGQLASILYFFTILILMPISGMIENRLLKW
UniProt ID: Q85PP0
Variant: I -> V at position 368-368
Variant annotation: in strain: Isolate SMG-7470
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MTNIRKSHPLIKIINESFIDLPAPSNISTWWNFGSLLGVCLILQILTGLFLAMHYTSDTATAFSSVTHICRDVNYGWIIRYMHANGASMFFICLFMHVGRGMYYGSHTFSETWNVGILLLFTVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVEWIWGGFSVDKATLTRFFAFHFILPFIIAALAAVHLLFLHETGSNNPLGLTSDSDKIPFHPYYTIKDILGLLLLILMLMILVLFSPDLLGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVMALVLSILILAIVPLLHTSKQRGMMFRPLSQCLFWLLVADLLTLTWIGGQPVEYPFITIGQLASILYFFTILILMPISGMIENRLLKW
UniProt ID: Q85V24
Variant: L -> I at position 92-92
Variant annotation: in strain: cv. H599
Protein function: Produces ATP from ADP in the presence of a proton gradient across the membrane. The catalytic sites are hosted primarily by the beta subunits.
Reference sequence:
MRINPTTSGSAVSTLEEKNLGRIAQIIGPVLDVVFPPGKMPNIYNALVVKGRDTVGQQINVICEVQQLLGNNRVRAVAMSATDGLTRGMEVLDTGAALSVPVGGATLGRIFNVLGEPVDNLGPVDTRTTSPIHRSAPAFIQLDTKLSIFETGIKVVDLLAPYRRGGKIGLFGGAGVGKTVLIMELINNIAKAHGGVSVFGGVGERTREGNDLYMEMKESGVINEKNIAESKVALVYGQMNEPPGARMRVGLTALTMAEYFRDVNEQDVLLFIDNIFRFVQAGSEVSALLGRMPSAVGYQPTLSTEMGSLQERITSTKEGSITSIQAVYVPADDLTDPAPATTFAHLDATTVLSRGLAAKGIYPAVDPLDSTSTMLQPRIVGEEHYETAQRVKQTLQRYKELQDIIAILGLDELSEEDRLTVARARKIERFLSQPFFVAEVFTGSPGKYVGLAETIRGFQLILSGELDGLPEQAFYLVGNIDEATAKAMNLEGEKK
UniProt ID: Q864G6
Variant: I -> T at position 17-17
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q864G6
Variant: W -> G at position 43-43
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q864G6
Variant: Q -> E at position 55-55
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q864G6
Variant: M -> L at position 100-100
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q864G6
Variant: L -> V at position 140-140
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q864G6
Variant: H -> R at position 153-153
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q864G6
Variant: I -> V at position 165-165
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q864G6
Variant: M -> V at position 199-199
Variant annotation: in strain: Isolate 3
Protein function: Receptor for MSH (alpha, beta and gamma) and ACTH. The activity of this receptor is mediated by G proteins which activate adenylate cyclase. Mediates melanogenesis, the production of eumelanin (black/brown) and phaeomelanin (red/yellow), via regulation of cAMP signaling in melanocytes.
Reference sequence:
MPMQGAQRRLLGSLNSIPTATPNLGLAANHTGAPCLEVSIPDWLFLSLGLVSLVQNVLVVAAIAKNRNLHSPMYCFICCLALSDLLVSGSNMLETAVILMLEAGALATRASVVQQLQNTIDVLTCSSMLCSLCFLGAIALDRYVSIFYALRYHSIVTLPRARRAIAATWVASVLSSTLFIAYCDHAAVLLCLVVFFLAMLVLMAVLYVHMLARACQHAQGITRLHKRQLPAHQGFGLRGAATLTILLGIFFLCWGPFFLHLMLVVLCPQHLTCSCIFKNFKVFLTLIICNTIIDPLIYAFRSQELCRTLKEVLLCSW
UniProt ID: Q867X3
Variant: G -> S at position 97-97
Variant annotation: in strain: Barriol, Espro, Padova and Praias
Protein function: Rapidly hydrolyzes choline released into the synapse.
Reference sequence:
SGKKVDAWMGIPYAQPPLGPLRFRHPRPAERWTGVLNATKPPNSCVQIVDTVFGDFPGATMWNPNTPLSEDCLYINVVVPRPRPKNAAVMLWIFGGGFYSGTATLDVYDHRTLASEENVIVVSLQYRVASLG
UniProt ID: Q869C3
Variant: V -> A at position 127-127
Variant annotation: in strain: Kisumu2 and YAO
Protein function: Rapidly hydrolyzes choline released into the synapse.
Reference sequence:
MEIRGLLMGRLRLGRRMVPLGLLGVTALLLILPPFALVQGRHHELNNGAAIGSHQLSAAAGVGLASQSAQSGSLASGVMSSVPAAGASSSSSSSLLSSSAEDDVARITLSKDADAFFTPYIGHGESVRIIDAELGTLEHVHSGATPRRRGLTRRESNSDANDNDPLVVNTDKGRIRGITVDAPSGKKVDVWLGIPYAQPPVGPLRFRHPRPAEKWTGVLNTTTPPNSCVQIVDTVFGDFPGATMWNPNTPLSEDCLYINVVAPRPRPKNAAVMLWIFGGGFYSGTATLDVYDHRALASEENVIVVSLQYRVASLGFLFLGTPEAPGNAGLFDQNLALRWVRDNIHRFGGDPSRVTLFGESAGAVSVSLHLLSALSRDLFQRAILQSGSPTAPWALVSREEATLRALRLAEAVGCPHEPSKLSDAVECLRGKDPHVLVNNEWGTLGICEFPFVPVVDGAFLDETPQRSLASGRFKKTEILTGSNTEEGYYFIIYYLTELLRKEEGVTVTREEFLQAVRELNPYVNGAARQAIVFEYTDWTEPDNPNSNRDALDKMVGDYHFTCNVNEFAQRYAEEGNNVYMYLYTHRSKGNPWPRWTGVMHGDEINYVFGEPLNPTLGYTEDEKDFSRKIMRYWSNFAKTGNPNPNTASSEFPEWPKHTAHGRHYLELGLNTSFVGRGPRLRQCAFWKKYLPQLVAATSNLPGPAPPSEPCESSAFFYRPDLIVLLVSLLTATVRFIQ
UniProt ID: Q869C3
Variant: G -> S at position 280-280
Variant annotation: in strain: YAO; confers resistance to insecticides
Protein function: Rapidly hydrolyzes choline released into the synapse.
Reference sequence:
MEIRGLLMGRLRLGRRMVPLGLLGVTALLLILPPFALVQGRHHELNNGAAIGSHQLSAAAGVGLASQSAQSGSLASGVMSSVPAAGASSSSSSSLLSSSAEDDVARITLSKDADAFFTPYIGHGESVRIIDAELGTLEHVHSGATPRRRGLTRRESNSDANDNDPLVVNTDKGRIRGITVDAPSGKKVDVWLGIPYAQPPVGPLRFRHPRPAEKWTGVLNTTTPPNSCVQIVDTVFGDFPGATMWNPNTPLSEDCLYINVVAPRPRPKNAAVMLWIFGGGFYSGTATLDVYDHRALASEENVIVVSLQYRVASLGFLFLGTPEAPGNAGLFDQNLALRWVRDNIHRFGGDPSRVTLFGESAGAVSVSLHLLSALSRDLFQRAILQSGSPTAPWALVSREEATLRALRLAEAVGCPHEPSKLSDAVECLRGKDPHVLVNNEWGTLGICEFPFVPVVDGAFLDETPQRSLASGRFKKTEILTGSNTEEGYYFIIYYLTELLRKEEGVTVTREEFLQAVRELNPYVNGAARQAIVFEYTDWTEPDNPNSNRDALDKMVGDYHFTCNVNEFAQRYAEEGNNVYMYLYTHRSKGNPWPRWTGVMHGDEINYVFGEPLNPTLGYTEDEKDFSRKIMRYWSNFAKTGNPNPNTASSEFPEWPKHTAHGRHYLELGLNTSFVGRGPRLRQCAFWKKYLPQLVAATSNLPGPAPPSEPCESSAFFYRPDLIVLLVSLLTATVRFIQ
UniProt ID: Q86GC8
Variant: G -> S at position 247-247
Variant annotation: in strain: SR; confers resistance to insecticides
Protein function: Rapidly hydrolyzes choline released into the synapse.
Reference sequence:
MEIRGLITRLLGPCHLRHLILCSLGLYSILVQSVHCRHHDIGSSVAHQLGSKYSQSSSLSSSSQSSSSLAEEATLNKDSDAFFTPYIGHGDSVRIVDAELGTLEREHIHSTTTRRRGLTRRESSSDATDSDPLVITTDKGKIRGTTLEAPSGKKVDAWMGIPYAQPPLGPLRFRHPRPAERWTGVLNATKPPNSCVQIVDTVFGDFPGATMWNPNTPLSEDCLYINVVVPRPRPKNAAVMLWIFGGGFYSGTATLDVYDHRTLASEENVIVVSLQYRVASLGFLFLGTPEAPGNAGLFDQNLALRWVRDNIHRFGGDPSRVTLFGESAGAVSVSLHLLSALSRDLFQRAILQSGSPTAPWALVSREEATLRALRLAEAVNCPHDATKLSDAVECLRTKDPNELVDNEWGTLGICEFPFVPVVDGAFLDETPQRSLASGRFKKTDILTGSNTEEGYYFIIYYLTELLRKEEGVTVTREEFLQAVRELNPYVNGAARQAIVFEYTDWIEPDNPNSNRDALDKMVGDYHFTCNVNEFAQRYAEEGNNVFMYLYTHRSKGNPWPRWTGVMHGDEINYVFGEPLNSALGYQDDEKDFSRKIMRYWSNFAKTGNPNPSTPSVDLPEWPKHTAHGRHYLELGLNTTFVGRGPRLRQCAFWKKYLPQLVAATSNLQVTPAPSVPCESSSTSYRSTLLLIVTLLLVTRFKI
UniProt ID: Q86SG5
Variant: R -> H at position 23-23
Variant annotation: in dbSNP:rs55985140
Protein function: May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases.
Reference sequence:
MSNTQAERSIIGMIDMFHKYTGRDGKIEKPSLLTMMKENFPNFLSACDKKGIHYLATVFEKKDKNEDKKIDFSEFLSLLGDIAADYHKQSHGAAPCSGGSQ
UniProt ID: Q86SG5
Variant: A -> T at position 84-84
Variant annotation: in dbSNP:rs3006414
Protein function: May be involved in epidermal differentiation and inflammation and might therefore be important for the pathogenesis of psoriasis and other diseases.
Reference sequence:
MSNTQAERSIIGMIDMFHKYTGRDGKIEKPSLLTMMKENFPNFLSACDKKGIHYLATVFEKKDKNEDKKIDFSEFLSLLGDIAADYHKQSHGAAPCSGGSQ
UniProt ID: Q86SK9
Variant: W -> S at position 209-209
Variant annotation: in DFNA79; uncertain significance; dbSNP:rs192654796
Protein function: Stearoyl-CoA desaturase that utilizes O(2) and electrons from reduced cytochrome b5 to introduce the first double bond into saturated fatty acyl-CoA substrates. Catalyzes the insertion of a cis double bond at the delta-9 position into fatty acyl-CoA substrates including palmitoyl-CoA and stearoyl-CoA . Gives rise to a mixture of 16:1 and 18:1 unsaturated fatty acids . Involved in neuronal cell proliferation and differentiation through down-regulation of EGFR/AKT/MAPK and Wnt signaling pathways .
Reference sequence:
MPGPATDAGKIPFCDAKEEIRAGLESSEGGGGPERPGARGQRQNIVWRNVVLMSLLHLGAVYSLVLIPKAKPLTLLWAYFCFLLAALGVTAGAHRLWSHRSYRAKLPLRIFLAVANSMAFQNDIFEWSRDHRAHHKYSETDADPHNARRGFFFSHIGWLFVRKHRDVIEKGRKLDVTDLLADPVVRIQRKYYKISVVLMCFVVPTLVPWYIWGESLWNSYFLASILRYTISLNISWLVNSAAHMYGNRPYDKHISPRQNPLVALGAIGEGFHNYHHTFPFDYSASEFGLNFNPTTWFIDFMCWLGLATDRKRATKPMIEARKARTGDSSA
UniProt ID: Q86SQ6
Variant: A -> S at position 183-183
Variant annotation: in dbSNP:rs34915504
Protein function: Orphan receptor.
Reference sequence:
MDLKTVLSLPRYPGEFLHPVVYACTAVMLLCLLASFVTYIVHQSAIRISRKGRHTLLNFCFHAALTFTVFAGGINRTKYPILCQAVGIVLHYSTLSTMLWIGVTARNIYKQVTKKAPLCLDTDQPPYPRQPLLRFYLVSGGVPFIICGVTAATNIRNYGTEDEDTAYCWMAWEPSLGAFYGPAAIITLVTCVYFLGTYVQLRRHPGRRYELRTQPEEQRRLATPEGGRGIRPGTPPAHDAPGASVLQNEHSFQAQLRAAAFTLFLFTATWAFGALAVSQGHFLDMVFSCLYGAFCVTLGLFVLIHHCAKREDVWQCWWACCPPRKDAHPALDANGAALGRAACLHSPGLGQPRGFAHPPGPCKMTNLQAAQGHASCLSPATPCCAKMHCEPLTADEAHVHLQEEGAFGHDPHLHGCLQGRTKPPYFSRHPAEEPEYAYHIPSSLDGSPRSSRTDSPPSSLDGPAGTHTLACCTQGDPFPMVTQPEGSDGSPALYSCPTQPGREAALGPGHLEMLRRTQSLPFGGPSQNGLPKGKLLEGLPFGTDGTGNIRTGPWKNETTV
UniProt ID: Q86SQ6
Variant: Q -> L at position 214-214
Variant annotation: in dbSNP:rs34679676
Protein function: Orphan receptor.
Reference sequence:
MDLKTVLSLPRYPGEFLHPVVYACTAVMLLCLLASFVTYIVHQSAIRISRKGRHTLLNFCFHAALTFTVFAGGINRTKYPILCQAVGIVLHYSTLSTMLWIGVTARNIYKQVTKKAPLCLDTDQPPYPRQPLLRFYLVSGGVPFIICGVTAATNIRNYGTEDEDTAYCWMAWEPSLGAFYGPAAIITLVTCVYFLGTYVQLRRHPGRRYELRTQPEEQRRLATPEGGRGIRPGTPPAHDAPGASVLQNEHSFQAQLRAAAFTLFLFTATWAFGALAVSQGHFLDMVFSCLYGAFCVTLGLFVLIHHCAKREDVWQCWWACCPPRKDAHPALDANGAALGRAACLHSPGLGQPRGFAHPPGPCKMTNLQAAQGHASCLSPATPCCAKMHCEPLTADEAHVHLQEEGAFGHDPHLHGCLQGRTKPPYFSRHPAEEPEYAYHIPSSLDGSPRSSRTDSPPSSLDGPAGTHTLACCTQGDPFPMVTQPEGSDGSPALYSCPTQPGREAALGPGHLEMLRRTQSLPFGGPSQNGLPKGKLLEGLPFGTDGTGNIRTGPWKNETTV
UniProt ID: Q86SQ6
Variant: T -> I at position 38-38
Variant annotation: in an acute myeloid leukemia, somatic mutation; dbSNP:rs181856403
Protein function: Orphan receptor.
Reference sequence:
MDLKTVLSLPRYPGEFLHPVVYACTAVMLLCLLASFVTYIVHQSAIRISRKGRHTLLNFCFHAALTFTVFAGGINRTKYPILCQAVGIVLHYSTLSTMLWIGVTARNIYKQVTKKAPLCLDTDQPPYPRQPLLRFYLVSGGVPFIICGVTAATNIRNYGTEDEDTAYCWMAWEPSLGAFYGPAAIITLVTCVYFLGTYVQLRRHPGRRYELRTQPEEQRRLATPEGGRGIRPGTPPAHDAPGASVLQNEHSFQAQLRAAAFTLFLFTATWAFGALAVSQGHFLDMVFSCLYGAFCVTLGLFVLIHHCAKREDVWQCWWACCPPRKDAHPALDANGAALGRAACLHSPGLGQPRGFAHPPGPCKMTNLQAAQGHASCLSPATPCCAKMHCEPLTADEAHVHLQEEGAFGHDPHLHGCLQGRTKPPYFSRHPAEEPEYAYHIPSSLDGSPRSSRTDSPPSSLDGPAGTHTLACCTQGDPFPMVTQPEGSDGSPALYSCPTQPGREAALGPGHLEMLRRTQSLPFGGPSQNGLPKGKLLEGLPFGTDGTGNIRTGPWKNETTV
UniProt ID: Q86SQ9
Variant: R -> H at position 37-37
Variant annotation: in DEDSM; strongly reduced cis-prenyltransferase activity; uncertain significance; dbSNP:rs1553121073
Protein function: With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) . Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length . Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol .
Reference sequence:
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
UniProt ID: Q86SQ9
Variant: K -> E at position 42-42
Variant annotation: in RP59; 5-fold reduction in catalytic activity and reduced affinity for FPP but not for IPP; dbSNP:rs147394623
Protein function: With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) . Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length . Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol .
Reference sequence:
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
UniProt ID: Q86SQ9
Variant: D -> N at position 95-95
Variant annotation: found in a patient with progressive myoclonus epilepsy; uncertain significance
Protein function: With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) . Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length . Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol .
Reference sequence:
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
UniProt ID: Q86SQ9
Variant: R -> Q at position 205-205
Variant annotation: found in a patient with progressive myoclonus epilepsy; uncertain significance; dbSNP:rs1557447255
Protein function: With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) . Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length . Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol .
Reference sequence:
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
UniProt ID: Q86SQ9
Variant: R -> Q at position 211-211
Variant annotation: in DEDSM; reduced cis-prenyltransferase activity; uncertain significance; dbSNP:rs1553122926
Protein function: With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) . Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length . Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol .
Reference sequence:
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
UniProt ID: Q86SQ9
Variant: V -> M at position 253-253
Variant annotation: in dbSNP:rs3816539
Protein function: With NUS1, forms the dehydrodolichyl diphosphate synthase (DDS) complex, an essential component of the dolichol monophosphate (Dol-P) biosynthetic machinery. Both subunits contribute to enzymatic activity, i.e. condensation of multiple copies of isopentenyl pyrophosphate (IPP) to farnesyl pyrophosphate (FPP) to produce dehydrodolichyl diphosphate (Dedol-PP), a precursor of dolichol phosphate which is utilized as a sugar carrier in protein glycosylation in the endoplasmic reticulum (ER) . Synthesizes long-chain polyprenols, mostly of C95 and C100 chain length . Regulates the glycosylation and stability of nascent NPC2, thereby promoting trafficking of LDL-derived cholesterol .
Reference sequence:
MSWIKEGELSLWERFCANIIKAGPMPKHIAFIMDGNRRYAKKCQVERQEGHSQGFNKLAETLRWCLNLGILEVTVYAFSIENFKRSKSEVDGLMDLARQKFSRLMEEKEKLQKHGVCIRVLGDLHLLPLDLQELIAQAVQATKNYNKCFLNVCFAYTSRHEISNAVREMAWGVEQGLLDPSDISESLLDKCLYTNRSPHPDILIRTSGEVRLSDFLLWQTSHSCLVFQPVLWPEYTFWNLFEAILQFQMNHSVLQKARDMYAEERKRQQLERDQATVTEQLLREGLQASGDAQLRRTRLHKLSARREERVQGFLQALELKRADWLARLGTASA
UniProt ID: Q86SX6
Variant: K -> Q at position 101-101
Variant annotation: in SIDBA3; deficiency in Fe-S cluster synthesis; does not impair ISCU binding; dbSNP:rs869312752
Protein function: Monothiol glutaredoxin involved in mitochondrial iron-sulfur (Fe/S) cluster transfer . Receives 2Fe/2S clusters from scaffold protein ISCU and mediates their transfer to apoproteins, to the 4Fe/FS cluster biosynthesis machinery, or export from mitochondrion . Required for normal regulation of hemoglobin synthesis by the iron-sulfur protein ACO1 .
Reference sequence:
MSGSLGRAAAALLRWGRGAGGGGLWGPGVRAAGSGAGGGGSAEQLDALVKKDKVVVFLKGTPEQPQCGFSNAVVQILRLHGVRDYAAYNVLDDPELRQGIKDYSNWPTIPQVYLNGEFVGGCDILLQMHQNGDLVEELKKLGIHSALLDEKKDQDSK