sujigwak/NVAR huggingface dataset:
UniProt ID: Q9XD77
Variant: E -> K at position 197-197
Variant annotation: in strain: IFO 14297
Protein function: RuBisCO catalyzes two reactions: the carboxylation of D-ribulose 1,5-bisphosphate, the primary event in carbon dioxide fixation, as well as the oxidative fragmentation of the pentose substrate. Both reactions occur simultaneously and in competition at the same active site.
Reference sequence:
MAVKSYQAGVTQYRQSYWQPDYMPLDTDILACFKITPQPGVDREEAAAAVAAESSCGTWTTVWTDLLTDLDYYKGRAYRLEDVPGDDTCYYAFIAYPIDLFEEGSVVNVFTSLVGNVFGFKAVRALRLEDLRFPIAYVKTCGGPPHGIQVERDKLNKYGRPLLGCTIKPKLGLSAKNYGRACYEALRGGLDFTKDDENINSQPFMRWRDRFDFVMEAVQKAEQETGERKGHYLNVTAPTPEEMYKRAEYAKEIRAPIIMHDYLAGGLCANAGLANWCRNNGMLLHIHRAMHAVIDRNPHHGIHFRVLTKILRPSGGDHLHTGTVVGKLEGDRASTLGWIDLLRESFVPEDRSRGIFFDQDWGSMPGGFAVASGGIHVWHMPALVTIFGDDSVLQFGGGTLGHPWGNAAGAHANRVALEACVQARGEGRHLEKEGKDILTAAAAQSPELKIAMETWKEIKFEFETMDKLAIANK
UniProt ID: Q9XD77
Variant: P -> L at position 313-313
Variant annotation: in strain: IFO 14297
Protein function: RuBisCO catalyzes two reactions: the carboxylation of D-ribulose 1,5-bisphosphate, the primary event in carbon dioxide fixation, as well as the oxidative fragmentation of the pentose substrate. Both reactions occur simultaneously and in competition at the same active site.
Reference sequence:
MAVKSYQAGVTQYRQSYWQPDYMPLDTDILACFKITPQPGVDREEAAAAVAAESSCGTWTTVWTDLLTDLDYYKGRAYRLEDVPGDDTCYYAFIAYPIDLFEEGSVVNVFTSLVGNVFGFKAVRALRLEDLRFPIAYVKTCGGPPHGIQVERDKLNKYGRPLLGCTIKPKLGLSAKNYGRACYEALRGGLDFTKDDENINSQPFMRWRDRFDFVMEAVQKAEQETGERKGHYLNVTAPTPEEMYKRAEYAKEIRAPIIMHDYLAGGLCANAGLANWCRNNGMLLHIHRAMHAVIDRNPHHGIHFRVLTKILRPSGGDHLHTGTVVGKLEGDRASTLGWIDLLRESFVPEDRSRGIFFDQDWGSMPGGFAVASGGIHVWHMPALVTIFGDDSVLQFGGGTLGHPWGNAAGAHANRVALEACVQARGEGRHLEKEGKDILTAAAAQSPELKIAMETWKEIKFEFETMDKLAIANK
UniProt ID: Q9XD77
Variant: G -> A at position 354-354
Variant annotation: in strain: IFO 14297
Protein function: RuBisCO catalyzes two reactions: the carboxylation of D-ribulose 1,5-bisphosphate, the primary event in carbon dioxide fixation, as well as the oxidative fragmentation of the pentose substrate. Both reactions occur simultaneously and in competition at the same active site.
Reference sequence:
MAVKSYQAGVTQYRQSYWQPDYMPLDTDILACFKITPQPGVDREEAAAAVAAESSCGTWTTVWTDLLTDLDYYKGRAYRLEDVPGDDTCYYAFIAYPIDLFEEGSVVNVFTSLVGNVFGFKAVRALRLEDLRFPIAYVKTCGGPPHGIQVERDKLNKYGRPLLGCTIKPKLGLSAKNYGRACYEALRGGLDFTKDDENINSQPFMRWRDRFDFVMEAVQKAEQETGERKGHYLNVTAPTPEEMYKRAEYAKEIRAPIIMHDYLAGGLCANAGLANWCRNNGMLLHIHRAMHAVIDRNPHHGIHFRVLTKILRPSGGDHLHTGTVVGKLEGDRASTLGWIDLLRESFVPEDRSRGIFFDQDWGSMPGGFAVASGGIHVWHMPALVTIFGDDSVLQFGGGTLGHPWGNAAGAHANRVALEACVQARGEGRHLEKEGKDILTAAAAQSPELKIAMETWKEIKFEFETMDKLAIANK
UniProt ID: Q9XD77
Variant: Q -> H at position 444-444
Variant annotation: in strain: IFO 14297
Protein function: RuBisCO catalyzes two reactions: the carboxylation of D-ribulose 1,5-bisphosphate, the primary event in carbon dioxide fixation, as well as the oxidative fragmentation of the pentose substrate. Both reactions occur simultaneously and in competition at the same active site.
Reference sequence:
MAVKSYQAGVTQYRQSYWQPDYMPLDTDILACFKITPQPGVDREEAAAAVAAESSCGTWTTVWTDLLTDLDYYKGRAYRLEDVPGDDTCYYAFIAYPIDLFEEGSVVNVFTSLVGNVFGFKAVRALRLEDLRFPIAYVKTCGGPPHGIQVERDKLNKYGRPLLGCTIKPKLGLSAKNYGRACYEALRGGLDFTKDDENINSQPFMRWRDRFDFVMEAVQKAEQETGERKGHYLNVTAPTPEEMYKRAEYAKEIRAPIIMHDYLAGGLCANAGLANWCRNNGMLLHIHRAMHAVIDRNPHHGIHFRVLTKILRPSGGDHLHTGTVVGKLEGDRASTLGWIDLLRESFVPEDRSRGIFFDQDWGSMPGGFAVASGGIHVWHMPALVTIFGDDSVLQFGGGTLGHPWGNAAGAHANRVALEACVQARGEGRHLEKEGKDILTAAAAQSPELKIAMETWKEIKFEFETMDKLAIANK
UniProt ID: Q9XER9
Variant: K -> E at position 525-525
Variant annotation: in strain: cv. Sy-0; causes late flowering phenotype
Protein function: Transcription factor that functions as repressor of flowering by enhancing the expression of several genes that delay flowering including FLC, FLM/MAF1, MAF2 and SVP . Also acts in the floral homeotic AGAMOUS (AG) pathway, specifically by processing the AGAMOUS pre-mRNA . Functions in association with HUA1 and HEN4 in AG pre-mRNA processing . Involved in all three aspects of the AG functions, the specification of stamen and carpel identities, the control of floral determinacy, and the spatial restriction of AP1 expression . Acts as transcription regulator that controls anthocyanin accumulation .
Reference sequence:
MAPGRKRGASKAKAKGQLVLGDLVLAKVKGFPAWPAKISRPEDWDRAPDPKKYFVQFFGTEEIAFVAPPDIQAFTSEAKSKLLARCQGKTVKYFAQAVEQICTAFEGLQNHKSNALGDEDSLDATEPGLTKAEIVDGTDHIVIESERTDNFNFRVDPCFPKLDENNGEERKAEIRKLDSSSFLESKVKTTSPVSESLEHSSFDPKIKKEDFDKGTDGSACNEHFGNGQKKLANGKRIKKEAGGSDRKGEDTVHRDKSNNSHVPGGRTASGNSDSKKSKGLLTEKTSSKVSADKHENSPGIKVGVSGKKRRLESEQGKLAPRVDESSRAAKKPRCESADNKVKCEIDDGSDSTGTVSDIKREIVLGLGARGGNFQYDKEAVAYTKRQRQTMEHATSPSFSGSRDKSGKGHLEQKDRSSPVRNVKAPAAQSLKKRRAVCIYDEDDDEDPKTPLHGKPAIVPQAASVLTDGPKRANVCHSTSTKAKISAGSTESTEVRKFPLRKHCEDASRVLPSNAENSTNSLPVVKPINELPPKDVKQILQSPKMSPQLVLTNKHVAGQHKVVKSSVKVSGVVMAKKPQSDSCKEAVAGSDKISSSQSQPANQRHKSASVGERLTVVSKAASRLNDSGSRDMSEDLSAAMLDLNREKGSATFTSAKTPDSAASMKDLIAAAQAKRKLAHTQNSIFGNLNPSFLSISDTQGRSHSPFMVQNASASAAISMPLVVQGHHQQGSSPSNHGHQSLSRNQIETDDNEERRLSSGHKSVGGSLSCSTEAAISRDAFEGMLETLSRTRESIGRATRLAIDCAKYGLASEVVELLIRKLESESHFHRKVDLFFLVDSITQHSHSQKGIAGASYVPTVQAALPRLLGAAAPPGTGASDNRRKCLKVLKLWLERKVFPESLLRRYIDDIRASGDDATGGFSLRRPSRSERAVDDPIREMEGMLVDEYGSNATFQLPGFFSSHNFEDDEEDDDLPTSQKEKSTSAGERVSALDDLEIHDTSSDKCHRVLEDVDHELEMEDVSGQRKDVAPSSFCENKTKEQSLDVMEPVAEKSTEFNPLPEDSPPLPQESPPPLPPLPPSPPPPSPPLPPSSLPPPPPAALFPPLPPPPSQPPPPPLSPPPSPPPPPPPPSQSLTTQLSIASHHQIPFQPGFPPPTYPLSHQTYPGSMQQDRSSIFTGDQIVQGPGNSSRGGLVEGAGKPEYFVQQSSSFSPAGVCSSREPSSFTSSRQLEFGNSDVLFNPEASSQNHRFQPSTPLSQRPMVRLPSAPSSHFSYPSHIQSQSQHSYTHPYPFPPQRDDARRYRNEEPWRIPSSGHSAENQNGAWIHGRNSHPGLPRVTDSFFRPPPERPPSGTMNYQPSAASNLQAVPAIPGHTAPQMLPSRPDIPTVNCWRPA
UniProt ID: Q9XES5
Variant: V -> A at position 347-347
Variant annotation: in strain: cv. M9
Protein function: Bifunctional enzyme involved in flavonoid metabolism. May use dihydroquercetin, dihydrokaempferol, eriodictyol, garbanzol (5-deoxydihydrokaempferol), dihydrofisetin (5-deoxydihydroquercetin), naringenin to a low extent (10%), but not 5-deoxynaringenin or butin (5-deoxyeriodictyol) as substrate.
Reference sequence:
MGSESESVCVTGASGFIGSWLVMRLLEHGYTVRATVRDPTNQKKVKHLLDLPKAETHLTLWKADLADEGSFDEAIQGCSGVFHVATPMDFESKDPENEVIKPTINGLLDILKACQKAKTVRKLVFTSSAGTVNVEEHQKPVYDESNWSDVEFCRSVKMTGWMYFVSKTLAEQAAWKYAKENNIDFITIIPTLVIGPFLMPSMPPSLITGLSPILRNESHYGIIKQGQYVHLDDLCLSHIYLYEHPKAEGRYICSSHDATIHELVKMLREKYPEYNIPTKFKGIDDNLEPVHFSSKKLREIGFEFKYSLEDMFVGAVDACRAKGLIPIPIPAEKTEAAEESNLVDVKVG
UniProt ID: Q9XGI7
Variant: F -> S at position 238-238
Variant annotation: in chloronerva; has no activity
Protein function: Synthesizes nicotianamine, a polyamine that serves as a sensor for the physiological iron status within the plant, and/or might be involved in the transport of iron.
Reference sequence:
MVCPNSNPVVEKVCELYEQISRLENLSPSKDVNVLFTDLVHTCMPPNPIDVSKLCQKIQEIRSHLIKLCGQAEGLLESHFSKILSSYENPLQHLHIFPYFDNYIKLSLLEYNILTKNTTNIPKKIAFIGSGPLPLTSLVLATKHLKTTCFHNYDIDVDANFMASALVAADPDMSSRMTFHTADVMDVTCALKDYDVVFLAALVGMDKEDKVKVVDHLAKYMSPGATLMLRSAHGARAFLYPVLDPRDLRGFEVLSVYHPTDEVINSVIIARKLPVPSVPLLDGLGAYVLPSKCACAEIHAFNPLNKMNLVEEFALEE
UniProt ID: Q9XIV8
Variant: L -> Q at position 77-77
Protein function: Removal of H(2)O(2), oxidation of toxic reductants, biosynthesis and degradation of lignin, suberization, auxin catabolism, response to environmental stresses such as wounding, pathogen attack and oxidative stress. These functions might be dependent on each isozyme/isoform in each plant tissue. Can use NADH, NADPH and monolignols as substrates.
Reference sequence:
MEYYHHSINKMAMFMVILVLAIDVTMVLGQGTRVGFYSSTCPRAESIVQSTVRAHFQSDPTVAPGILRMHFHDCFVLGCDGSILIEGSDAERTAIPNRNLKGFDVIEDAKTQIEAICPGVVSCADILALAARDSVVATRGLTWSVPTGRRDGRVSRAADAGDLPAFFDSVDIQKRKFLTKGLNTQDLVALTGAHTIGTAGCAVIRDRLFNFNSTGGPDPSIDATFLPQLRALCPQNGDASRRVGLDTGSVNNFDTSYFSNLRNGRGVLESDQKLWTDASTQVFVQRFLGIRGLLGLTFGVEFGRSMVKMSNIEVKTGTNGEIRKVCSAIN
UniProt ID: Q9XIV8
Variant: K -> R at position 101-101
Protein function: Removal of H(2)O(2), oxidation of toxic reductants, biosynthesis and degradation of lignin, suberization, auxin catabolism, response to environmental stresses such as wounding, pathogen attack and oxidative stress. These functions might be dependent on each isozyme/isoform in each plant tissue. Can use NADH, NADPH and monolignols as substrates.
Reference sequence:
MEYYHHSINKMAMFMVILVLAIDVTMVLGQGTRVGFYSSTCPRAESIVQSTVRAHFQSDPTVAPGILRMHFHDCFVLGCDGSILIEGSDAERTAIPNRNLKGFDVIEDAKTQIEAICPGVVSCADILALAARDSVVATRGLTWSVPTGRRDGRVSRAADAGDLPAFFDSVDIQKRKFLTKGLNTQDLVALTGAHTIGTAGCAVIRDRLFNFNSTGGPDPSIDATFLPQLRALCPQNGDASRRVGLDTGSVNNFDTSYFSNLRNGRGVLESDQKLWTDASTQVFVQRFLGIRGLLGLTFGVEFGRSMVKMSNIEVKTGTNGEIRKVCSAIN
UniProt ID: Q9XIV8
Variant: T -> K at position 111-111
Protein function: Removal of H(2)O(2), oxidation of toxic reductants, biosynthesis and degradation of lignin, suberization, auxin catabolism, response to environmental stresses such as wounding, pathogen attack and oxidative stress. These functions might be dependent on each isozyme/isoform in each plant tissue. Can use NADH, NADPH and monolignols as substrates.
Reference sequence:
MEYYHHSINKMAMFMVILVLAIDVTMVLGQGTRVGFYSSTCPRAESIVQSTVRAHFQSDPTVAPGILRMHFHDCFVLGCDGSILIEGSDAERTAIPNRNLKGFDVIEDAKTQIEAICPGVVSCADILALAARDSVVATRGLTWSVPTGRRDGRVSRAADAGDLPAFFDSVDIQKRKFLTKGLNTQDLVALTGAHTIGTAGCAVIRDRLFNFNSTGGPDPSIDATFLPQLRALCPQNGDASRRVGLDTGSVNNFDTSYFSNLRNGRGVLESDQKLWTDASTQVFVQRFLGIRGLLGLTFGVEFGRSMVKMSNIEVKTGTNGEIRKVCSAIN
UniProt ID: Q9XIV8
Variant: Q -> K at position 281-281
Protein function: Removal of H(2)O(2), oxidation of toxic reductants, biosynthesis and degradation of lignin, suberization, auxin catabolism, response to environmental stresses such as wounding, pathogen attack and oxidative stress. These functions might be dependent on each isozyme/isoform in each plant tissue. Can use NADH, NADPH and monolignols as substrates.
Reference sequence:
MEYYHHSINKMAMFMVILVLAIDVTMVLGQGTRVGFYSSTCPRAESIVQSTVRAHFQSDPTVAPGILRMHFHDCFVLGCDGSILIEGSDAERTAIPNRNLKGFDVIEDAKTQIEAICPGVVSCADILALAARDSVVATRGLTWSVPTGRRDGRVSRAADAGDLPAFFDSVDIQKRKFLTKGLNTQDLVALTGAHTIGTAGCAVIRDRLFNFNSTGGPDPSIDATFLPQLRALCPQNGDASRRVGLDTGSVNNFDTSYFSNLRNGRGVLESDQKLWTDASTQVFVQRFLGIRGLLGLTFGVEFGRSMVKMSNIEVKTGTNGEIRKVCSAIN
UniProt ID: Q9XL45
Variant: T -> A at position 44-44
Variant annotation: in strain: Isolate 661nigra
Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor.
Reference sequence:
MIPTYMNIMLAFTISLLGMLTYRSHLVASLLCLEGMMMSLFIMTTLIASNTHSPLINIMPIILLVFAACEAAVGLALLISISNTYGLDYIHNLNLLQC
UniProt ID: Q9XL45
Variant: S -> F at position 53-53
Variant annotation: in strain: Isolate 661nigra
Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor.
Reference sequence:
MIPTYMNIMLAFTISLLGMLTYRSHLVASLLCLEGMMMSLFIMTTLIASNTHSPLINIMPIILLVFAACEAAVGLALLISISNTYGLDYIHNLNLLQC
UniProt ID: Q9XL62
Variant: M -> V at position 9-9
Variant annotation: in strain: Isolate 704
Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor.
Reference sequence:
MIPTYMNIMLAFTISLLGMLIYRSHLMASLLCLEGMMMSLFIMTTLIALNTRSPLTNIMPIILLVFAACEAAVGLALLVSISNTYGLDYIHNLNLLQC
UniProt ID: Q9XL62
Variant: R -> H at position 52-52
Variant annotation: in strain: Isolate 704
Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor.
Reference sequence:
MIPTYMNIMLAFTISLLGMLIYRSHLMASLLCLEGMMMSLFIMTTLIALNTRSPLTNIMPIILLVFAACEAAVGLALLVSISNTYGLDYIHNLNLLQC
UniProt ID: Q9XL62
Variant: N -> S at position 94-94
Variant annotation: in strain: Isolate 704
Protein function: Core subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which catalyzes electron transfer from NADH through the respiratory chain, using ubiquinone as an electron acceptor.
Reference sequence:
MIPTYMNIMLAFTISLLGMLIYRSHLMASLLCLEGMMMSLFIMTTLIALNTRSPLTNIMPIILLVFAACEAAVGLALLVSISNTYGLDYIHNLNLLQC
UniProt ID: Q9XMC1
Variant: I -> V at position 238-238
Variant annotation: in strain: Isolate USNM_575170
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:
MTNTRKTHPLVKIINHSFIDLPAPSNISTWWNFGSLLGLCLVIQILTGLFLAMHYTSDTLTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGMYYGSYTYFETWNIGVILLFAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFVLPFIITALVMVHLLFLHETGSNNPSGLISDSDKIPFHPYYTIKDILGVLLLILILMTLVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVLSILILMLFPLLHLSKQRSMMFRPLSQCMFWILVADLFTLTWIGGQPVEYPYIIIGQLASILYFAIILLILPTISLIENKLLKW
UniProt ID: Q9XP34
Variant: V -> I at position 184-184
Variant annotation: in strain: Isolate LMS_Z102
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:
MTNTRKTHPLMKIINRSLIDLPAPSNISTWWNFGSLLGLCLAIQIFTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGMYYGSYTYFETWNIGVILLLAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFVLPFIIAALVMVHLLFLHETGSNNPSGLISNSDKIPFHPYFTIKDVLGILLLILILMILVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVSSILILMLFPLLHLSKQRSMMFRPLSQCTFWILVTDLITLTWIGGQPVEYPYTIIGQLASILYFAIILLILPAISLIENKLLKW
UniProt ID: Q9XP34
Variant: P -> S at position 261-261
Variant annotation: in strain: Isolate LMS_Z102
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:
MTNTRKTHPLMKIINRSLIDLPAPSNISTWWNFGSLLGLCLAIQIFTGLFLAMHYTSDTMTAFSSVTHICRDVNYGWLIRYMHANGASMFFICLFLHVGRGMYYGSYTYFETWNIGVILLLAVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTTLVEWIWGGFSVDKATLTRFFAFHFVLPFIIAALVMVHLLFLHETGSNNPSGLISNSDKIPFHPYFTIKDVLGILLLILILMILVLFSPDLLGDPDNYTPANPLSTPPHIKPEWYFLFAYAILRSIPNKLGGVLALVSSILILMLFPLLHLSKQRSMMFRPLSQCTFWILVTDLITLTWIGGQPVEYPYTIIGQLASILYFAIILLILPAISLIENKLLKW
UniProt ID: Q9XSC6
Variant: I -> M at position 377-377
Protein function: Reversibly catalyzes the transfer of phosphate between ATP and various phosphogens (e.g. creatine phosphate). Creatine kinase isoenzymes play a central role in energy transduction in tissues with large, fluctuating energy demands, such as skeletal muscle, heart, brain and spermatozoa.
Reference sequence:
MPFGNTHNKHKLNFKAEEEYPDLSKHNNHMAKALTLEIYKKLRDKETPSGFTLDDVIQTGVDNPGHPFIMTVGCVAGDEESYTVFKDLFDPIIQDRHGGFKPTDKHKTDLNHENLKGGDDLDPNYVLSSRVRTGRSIKGYALPPHCSRGERRAVEKLSVEALNSLTGEFKGKYYPLKSMTEQEQQQLIDDHFLFDKPVSPLLLASGMARDWPDARGIWHNDNKSFLVWVNEEDHLRVISMEKGGNMKEVFRRFCVGLQKIEEIFKKAGHPFMWNEHLGYVLTCPSNLGTGLRGGVHVKLAHLSKHPKFEEILTRLRLQKRGTGGVDTAAVGSVFDVSNADRLGSSEVEQVQLVVDGVKLMVEMEKKLEKGQSIDDMIPAQK
UniProt ID: Q9XSC9
Variant: Q -> P at position 47-47
Protein function: Primary vitamin B12-binding and transport protein. Delivers cobalamin to cells.
Reference sequence:
MGHLGALLFLLGGLGALANICEITEVDSTLVERLGQRLLPWMDRLSQEQLNPSIYVGLRLSSLQAGAKEAHYLHSLKLSYQQSLLRPASNKDDNDSEAKPSMGQLALYLLALRANCEFIGGRKGDRLVSQLKRFLEDEKRAIGHNHQGHPRTSYYQYSLGILALCVHQKRVHDSVVGKLLYAVEHKPHLLQDHVSVDTMAMAGMAFSCLELSNLNPKQRNRINLALKRVQEKILKAQTPEGYFGNVYSTPLALQLLMGSLRPSVELGTACLKAKAALQASLQHKTFQNPLMISQLLPVLNQKSYVDLISPDCQAPRALLEPALETPPQAKVPKFIDVLLKVSGISPSYRHSVSVPAGSSLEDILKNAQEHGRFRFRTQASLSGPFLTSVLGRKAGEREFWQVLRDPDTPLQQGIADYRPKDGETIELRLVGW
UniProt ID: Q9XT58
Variant: V -> A at position 52-52
Variant annotation: in allele B3AR-D
Protein function: Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.
Reference sequence:
MAPWPPGNSSLTPWPDIPTLAPNTANASGLPGVPWAVALAGALLALAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADLVVGLLVVPPGATLALTGHWPLGVTGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRRARAAVVLVWVVSAAVSFAPIMSKWWRVGADAEAQRCHSNPRCCTFASNMPYALLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRRELGRFPPEESPPAPSRSGSPGPAGPYASPAGVPSYGRRPARLLPLREHRALRTLGLIMGTFTLCWLPFFVVNVVRALGGPSLVSGPTFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLLCRCPPEEHLAAASPPRAPSGAPTVLTSPAGPRQPSPLDGASCGLS
UniProt ID: Q9XT58
Variant: A -> V at position 270-270
Variant annotation: in allele B3AR-A and allele B3AR-B/F
Protein function: Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.
Reference sequence:
MAPWPPGNSSLTPWPDIPTLAPNTANASGLPGVPWAVALAGALLALAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADLVVGLLVVPPGATLALTGHWPLGVTGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRRARAAVVLVWVVSAAVSFAPIMSKWWRVGADAEAQRCHSNPRCCTFASNMPYALLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRRELGRFPPEESPPAPSRSGSPGPAGPYASPAGVPSYGRRPARLLPLREHRALRTLGLIMGTFTLCWLPFFVVNVVRALGGPSLVSGPTFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLLCRCPPEEHLAAASPPRAPSGAPTVLTSPAGPRQPSPLDGASCGLS
UniProt ID: Q9XT58
Variant: L -> V at position 322-322
Variant annotation: in allele B3AR-D
Protein function: Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.
Reference sequence:
MAPWPPGNSSLTPWPDIPTLAPNTANASGLPGVPWAVALAGALLALAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADLVVGLLVVPPGATLALTGHWPLGVTGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRRARAAVVLVWVVSAAVSFAPIMSKWWRVGADAEAQRCHSNPRCCTFASNMPYALLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRRELGRFPPEESPPAPSRSGSPGPAGPYASPAGVPSYGRRPARLLPLREHRALRTLGLIMGTFTLCWLPFFVVNVVRALGGPSLVSGPTFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLLCRCPPEEHLAAASPPRAPSGAPTVLTSPAGPRQPSPLDGASCGLS
UniProt ID: Q9XT58
Variant: R -> Q at position 376-376
Variant annotation: in allele B3AR-A
Protein function: Beta-adrenergic receptors mediate the catecholamine-induced activation of adenylate cyclase through the action of G proteins. Beta-3 is involved in the regulation of lipolysis and thermogenesis.
Reference sequence:
MAPWPPGNSSLTPWPDIPTLAPNTANASGLPGVPWAVALAGALLALAVLATVGGNLLVIVAIARTPRLQTMTNVFVTSLATADLVVGLLVVPPGATLALTGHWPLGVTGCELWTSVDVLCVTASIETLCALAVDRYLAVTNPLRYGALVTKRRARAAVVLVWVVSAAVSFAPIMSKWWRVGADAEAQRCHSNPRCCTFASNMPYALLSSSVSFYLPLLVMLFVYARVFVVATRQLRLLRRELGRFPPEESPPAPSRSGSPGPAGPYASPAGVPSYGRRPARLLPLREHRALRTLGLIMGTFTLCWLPFFVVNVVRALGGPSLVSGPTFLALNWLGYANSAFNPLIYCRSPDFRSAFRRLLCRCPPEEHLAAASPPRAPSGAPTVLTSPAGPRQPSPLDGASCGLS
UniProt ID: Q9Y210
Variant: P -> S at position 15-15
Variant annotation: in dbSNP:rs3802829
Protein function: Thought to form a receptor-activated non-selective calcium permeant cation channel . Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C . Seems not to be activated by intracellular calcium store depletion.
Reference sequence:
MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCPQAPLPCYGYYPCFRGSDNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERFLDAAEYGNIPVVRKMLEECHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSRVGDALLLAISKGYVRIVEAILSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSHDVTPIILAAHCQEYEIVHTLLRKGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINAYKGLASPAYLSLSSEDPVMTALELSNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLDLCRNTEEVEAILNGDVETLQSGDHGRPNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFLALIYWFAPCSKMGKIMRGPFMKFVAHAASFTIFLGLLVMNAADRFEGTKLLPNETSTDNAKQLFRMKTSCFSWMEMLIISWVIGMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAASFIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYAIAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYIGAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLLNMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKLKKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSSEDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLEEKSQNTEDLAELIRELGEKLSMEPNQEETNR
UniProt ID: Q9Y210
Variant: F -> FAYMF at position 88-88
Variant annotation: in FSGS2; uncertain significance
Protein function: Thought to form a receptor-activated non-selective calcium permeant cation channel . Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C . Seems not to be activated by intracellular calcium store depletion.
Reference sequence:
MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCPQAPLPCYGYYPCFRGSDNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERFLDAAEYGNIPVVRKMLEECHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSRVGDALLLAISKGYVRIVEAILSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSHDVTPIILAAHCQEYEIVHTLLRKGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINAYKGLASPAYLSLSSEDPVMTALELSNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLDLCRNTEEVEAILNGDVETLQSGDHGRPNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFLALIYWFAPCSKMGKIMRGPFMKFVAHAASFTIFLGLLVMNAADRFEGTKLLPNETSTDNAKQLFRMKTSCFSWMEMLIISWVIGMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAASFIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYAIAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYIGAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLLNMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKLKKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSSEDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLEEKSQNTEDLAELIRELGEKLSMEPNQEETNR
UniProt ID: Q9Y210
Variant: G -> S at position 109-109
Variant annotation: in FSGS2; increases calcium ion transport
Protein function: Thought to form a receptor-activated non-selective calcium permeant cation channel . Probably is operated by a phosphatidylinositol second messenger system activated by receptor tyrosine kinases or G-protein coupled receptors. Activated by diacylglycerol (DAG) in a membrane-delimited fashion, independently of protein kinase C . Seems not to be activated by intracellular calcium store depletion.
Reference sequence:
MSQSPAFGPRRGSSPRGAAGAAARRNESQDYLLMDSELGEDGCPQAPLPCYGYYPCFRGSDNRLAHRRQTVLREKGRRLANRGPAYMFSDRSTSLSIEEERFLDAAEYGNIPVVRKMLEECHSLNVNCVDYMGQNALQLAVANEHLEITELLLKKENLSRVGDALLLAISKGYVRIVEAILSHPAFAEGKRLATSPSQSELQQDDFYAYDEDGTRFSHDVTPIILAAHCQEYEIVHTLLRKGARIERPHDYFCKCNDCNQKQKHDSFSHSRSRINAYKGLASPAYLSLSSEDPVMTALELSNELAVLANIEKEFKNDYKKLSMQCKDFVVGLLDLCRNTEEVEAILNGDVETLQSGDHGRPNLSRLKLAIKYEVKKFVAHPNCQQQLLSIWYENLSGLRQQTMAVKFLVVLAVAIGLPFLALIYWFAPCSKMGKIMRGPFMKFVAHAASFTIFLGLLVMNAADRFEGTKLLPNETSTDNAKQLFRMKTSCFSWMEMLIISWVIGMIWAECKEIWTQGPKEYLFELWNMLDFGMLAIFAASFIARFMAFWHASKAQSIIDANDTLKDLTKVTLGDNVKYYNLARIKWDPSDPQIISEGLYAIAVVLSFSRIAYILPANESFGPLQISLGRTVKDIFKFMVIFIMVFVAFMIGMFNLYSYYIGAKQNEAFTTVEESFKTLFWAIFGLSEVKSVVINYNHKFIENIGYVLYGVYNVTMVIVLLNMLIAMINSSFQEIEDDADVEWKFARAKLWFSYFEEGRTLPVPFNLVPSPKSLFYLLLKLKKWISELFQGHKKGFQEDAEMNKINEEKKLGILGSHEDLSKLSLDKKQVGHNKQPSIRSSEDFHLNSFNNPPRQYQKIMKRLIKRYVLQAQIDKESDEVNEGELKEIKQDISSLRYELLEEKSQNTEDLAELIRELGEKLSMEPNQEETNR