sujigwak/NVAR huggingface dataset:
UniProt ID: Q2M3M2
Variant: V -> I at position 124-124
Variant annotation: in dbSNP:rs141515954
Protein function: Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose.
Reference sequence:
MSKELAAMGPGASGDGVRTETAPHIALDSRVGLHAYDISVVVIYFVFVIAVGIWSSIRASRGTIGGYFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGGLAVGGFEWNATWLLLALGWVFVPVYIAAGVVTMPQYLKKRFGGQRIQVYMSVLSLILYIFTKISTDIFSGALFIQMALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVGGALVLMFLGFQDVGWYPGLEQRYRQAIPNVTVPNTTCHLPRPDAFHILRDPVSGDIPWPGLIFGLTVLATWCWCTDQVIVQRSLSAKSLSHAKGGSVLGGYLKILPMFFIVMPGMISRALFPDEVGCVDPDVCQRICGARVGCSNIAYPKLVMALMPVGLRGLMIAVIMAALMSSLTSIFNSSSTLFTIDVWQRFRRKSTEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFDYIQAVTSYLAPPITALFLLAIFCKRVTEPGAFWGLVFGLGVGLLRMILEFSYPAPACGEVDRRPAVLKDFHYLYFAILLCGLTAIVIVIVSLCTTPIPEEQLTRLTWWTRNCPLSELEKEAHESTPEISERPAGECPAGGGAAENSSLGQEQPEAPSRSWGKLLWSWFCGLSGTPEQALSPAEKAALEQKLTSIEEEPLWRHVCNINAVLLLAINIFLWGYFA
UniProt ID: Q2M3M2
Variant: V -> M at position 152-152
Variant annotation: in dbSNP:rs212989
Protein function: Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose.
Reference sequence:
MSKELAAMGPGASGDGVRTETAPHIALDSRVGLHAYDISVVVIYFVFVIAVGIWSSIRASRGTIGGYFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGGLAVGGFEWNATWLLLALGWVFVPVYIAAGVVTMPQYLKKRFGGQRIQVYMSVLSLILYIFTKISTDIFSGALFIQMALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVGGALVLMFLGFQDVGWYPGLEQRYRQAIPNVTVPNTTCHLPRPDAFHILRDPVSGDIPWPGLIFGLTVLATWCWCTDQVIVQRSLSAKSLSHAKGGSVLGGYLKILPMFFIVMPGMISRALFPDEVGCVDPDVCQRICGARVGCSNIAYPKLVMALMPVGLRGLMIAVIMAALMSSLTSIFNSSSTLFTIDVWQRFRRKSTEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFDYIQAVTSYLAPPITALFLLAIFCKRVTEPGAFWGLVFGLGVGLLRMILEFSYPAPACGEVDRRPAVLKDFHYLYFAILLCGLTAIVIVIVSLCTTPIPEEQLTRLTWWTRNCPLSELEKEAHESTPEISERPAGECPAGGGAAENSSLGQEQPEAPSRSWGKLLWSWFCGLSGTPEQALSPAEKAALEQKLTSIEEEPLWRHVCNINAVLLLAINIFLWGYFA
UniProt ID: Q2M3M2
Variant: M -> T at position 207-207
Variant annotation: in dbSNP:rs12047252
Protein function: Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose.
Reference sequence:
MSKELAAMGPGASGDGVRTETAPHIALDSRVGLHAYDISVVVIYFVFVIAVGIWSSIRASRGTIGGYFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGGLAVGGFEWNATWLLLALGWVFVPVYIAAGVVTMPQYLKKRFGGQRIQVYMSVLSLILYIFTKISTDIFSGALFIQMALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVGGALVLMFLGFQDVGWYPGLEQRYRQAIPNVTVPNTTCHLPRPDAFHILRDPVSGDIPWPGLIFGLTVLATWCWCTDQVIVQRSLSAKSLSHAKGGSVLGGYLKILPMFFIVMPGMISRALFPDEVGCVDPDVCQRICGARVGCSNIAYPKLVMALMPVGLRGLMIAVIMAALMSSLTSIFNSSSTLFTIDVWQRFRRKSTEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFDYIQAVTSYLAPPITALFLLAIFCKRVTEPGAFWGLVFGLGVGLLRMILEFSYPAPACGEVDRRPAVLKDFHYLYFAILLCGLTAIVIVIVSLCTTPIPEEQLTRLTWWTRNCPLSELEKEAHESTPEISERPAGECPAGGGAAENSSLGQEQPEAPSRSWGKLLWSWFCGLSGTPEQALSPAEKAALEQKLTSIEEEPLWRHVCNINAVLLLAINIFLWGYFA
UniProt ID: Q2M3M2
Variant: I -> M at position 269-269
Variant annotation: in dbSNP:rs212991
Protein function: Involved in sodium-dependent transport of D-mannose, D-glucose and D-fructose.
Reference sequence:
MSKELAAMGPGASGDGVRTETAPHIALDSRVGLHAYDISVVVIYFVFVIAVGIWSSIRASRGTIGGYFLAGRSMSWWPIGASLMSSNVGSGLFIGLAGTGAAGGLAVGGFEWNATWLLLALGWVFVPVYIAAGVVTMPQYLKKRFGGQRIQVYMSVLSLILYIFTKISTDIFSGALFIQMALGWNLYLSTGILLVVTAVYTIAGGLMAVIYTDALQTVIMVGGALVLMFLGFQDVGWYPGLEQRYRQAIPNVTVPNTTCHLPRPDAFHILRDPVSGDIPWPGLIFGLTVLATWCWCTDQVIVQRSLSAKSLSHAKGGSVLGGYLKILPMFFIVMPGMISRALFPDEVGCVDPDVCQRICGARVGCSNIAYPKLVMALMPVGLRGLMIAVIMAALMSSLTSIFNSSSTLFTIDVWQRFRRKSTEQELMVVGRVFVVFLVVISILWIPIIQSSNSGQLFDYIQAVTSYLAPPITALFLLAIFCKRVTEPGAFWGLVFGLGVGLLRMILEFSYPAPACGEVDRRPAVLKDFHYLYFAILLCGLTAIVIVIVSLCTTPIPEEQLTRLTWWTRNCPLSELEKEAHESTPEISERPAGECPAGGGAAENSSLGQEQPEAPSRSWGKLLWSWFCGLSGTPEQALSPAEKAALEQKLTSIEEEPLWRHVCNINAVLLLAINIFLWGYFA
UniProt ID: Q2M3T9
Variant: A -> S at position 346-346
Variant annotation: in dbSNP:rs6949082
Protein function: Endo-hyaluronidase that degrades hyaluronan to smaller oligosaccharide fragments. Has also chondroitin sulfate hydrolase activity, The best substrate being the galactosaminidic linkage in the sequence of a trisulfated tetrasaccharide.
Reference sequence:
MKVLSEGQLKLCVVQPVHLTSWLLIFFILKSISCLKPARLPIYQRKPFIAAWNAPTDQCLIKYNLRLNLKMFPVIGSPLAKARGQNVTIFYVNRLGYYPWYTSQGVPINGGLPQNISLQVHLEKADQDINYYIPAEDFSGLAVIDWEYWRPQWARNWNSKDVYRQKSRKLISDMGKNVSATDIEYLAKVTFEESAKAFMKETIKLGIKSRPKGLWGYYLYPDCHNYNVYAPNYSGSCPEDEVLRNNELSWLWNSSAALYPSIGVWKSLGDSENILRFSKFRVHESMRISTMTSHDYALPVFVYTRLGYRDEPLFFLSKQDLVSTIGESAALGAAGIVIWGDMNLTASKANCTKVKQFVSSDLGSYIANVTRAAEVCSLHLCRNNGRCIRKMWNAPSYLHLNPASYHIEASEDGEFTVKGKASDTDLAVMADTFSCHCYQGYEGADCREIKTADGCSGVSPSPGSLMTLCLLLLASYRSIQL
UniProt ID: Q2M3X9
Variant: L -> F at position 182-182
Variant annotation: in dbSNP:rs1737367
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHLVSVGHLVGKPDVIFRLGPGDESWMADGGTPVRTCAGEDRPEVWEVDEQIDHYKESQDKFLWQAAFIGKETLKDESGQECKICRKIIYLNTDFVSVKQRLPKYYSWERCSKHHLNFLGQNRSYVRKKDDGCKAYWKVCLHYNLHKAQPAERFFDPNQRGKALHQKQALRKSQRSQTGEKLYKCTECGKVFIQKANLVVHQRTHTGEKPYECCECAKAFSQKSTLIAHQRTHTGEKPYECSECGKTFIQKSTLIKHQRTHTGEKPFVCDKCPKAFKSSYHLIRHEKTHIRQAFYKGIKCTTSSLIYQRIHTSEKPQCSEHGKASDEKPSPTKHWRTHTKENIYECSKCGKSFRGKSHLSVHQRIHTGEKPYECSICGKTFSGKSHLSVHHRTHTGEKPYECRRCGKAFGEKSTLIVHQRMHTGEKPYKCNECGKAFSEKSPLIKHQRIHTGERPYECTDCKKAFSRKSTLIKHQRIHTGEKPYKCSECGKAFSVKSTLIVHHRTHTGEKPYECRDCGKAFSGKSTLIKHQRSHTGDKNL
UniProt ID: Q2M3X9
Variant: T -> M at position 343-343
Variant annotation: in dbSNP:rs61730637
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHLVSVGHLVGKPDVIFRLGPGDESWMADGGTPVRTCAGEDRPEVWEVDEQIDHYKESQDKFLWQAAFIGKETLKDESGQECKICRKIIYLNTDFVSVKQRLPKYYSWERCSKHHLNFLGQNRSYVRKKDDGCKAYWKVCLHYNLHKAQPAERFFDPNQRGKALHQKQALRKSQRSQTGEKLYKCTECGKVFIQKANLVVHQRTHTGEKPYECCECAKAFSQKSTLIAHQRTHTGEKPYECSECGKTFIQKSTLIKHQRTHTGEKPFVCDKCPKAFKSSYHLIRHEKTHIRQAFYKGIKCTTSSLIYQRIHTSEKPQCSEHGKASDEKPSPTKHWRTHTKENIYECSKCGKSFRGKSHLSVHQRIHTGEKPYECSICGKTFSGKSHLSVHHRTHTGEKPYECRRCGKAFGEKSTLIVHQRMHTGEKPYKCNECGKAFSEKSPLIKHQRIHTGERPYECTDCKKAFSRKSTLIKHQRIHTGEKPYKCSECGKAFSVKSTLIVHHRTHTGEKPYECRDCGKAFSGKSTLIKHQRSHTGDKNL
UniProt ID: Q2M3X9
Variant: P -> L at position 412-412
Variant annotation: found in patients with X-linked intellectual disability; uncertain significance; dbSNP:rs1422964788
Protein function: May be involved in transcriptional regulation.
Reference sequence:
MAMSQESLTFKDVFVDFTLEEWQQLDSAQKNLYRDVMLENYSHLVSVGHLVGKPDVIFRLGPGDESWMADGGTPVRTCAGEDRPEVWEVDEQIDHYKESQDKFLWQAAFIGKETLKDESGQECKICRKIIYLNTDFVSVKQRLPKYYSWERCSKHHLNFLGQNRSYVRKKDDGCKAYWKVCLHYNLHKAQPAERFFDPNQRGKALHQKQALRKSQRSQTGEKLYKCTECGKVFIQKANLVVHQRTHTGEKPYECCECAKAFSQKSTLIAHQRTHTGEKPYECSECGKTFIQKSTLIKHQRTHTGEKPFVCDKCPKAFKSSYHLIRHEKTHIRQAFYKGIKCTTSSLIYQRIHTSEKPQCSEHGKASDEKPSPTKHWRTHTKENIYECSKCGKSFRGKSHLSVHQRIHTGEKPYECSICGKTFSGKSHLSVHHRTHTGEKPYECRRCGKAFGEKSTLIVHQRMHTGEKPYKCNECGKAFSEKSPLIKHQRIHTGERPYECTDCKKAFSRKSTLIKHQRIHTGEKPYKCSECGKAFSVKSTLIVHHRTHTGEKPYECRDCGKAFSGKSTLIKHQRSHTGDKNL
UniProt ID: Q2N2B5
Variant: V -> G at position 123-123
Variant annotation: in strain: Isolate LVT 403
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:
MTIMRKTHPLMKMVNHAFIDLPTPSNISGWWNFGSLLGLCLILQILTGLFLSMHYTPDTLTAFSSVAHICRDVNYGWLIRYMHANGASLFFICLYFHIGRGIYYGSYLYKETWNIGIILLFLVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGSSLVEWIWGGFSVDKATLNRFFAFHFILPFIIAAMAMVHLLFLHETGSNNPLGIPSNSDKIPFHPYYSYKDLLGGAALLAFFFTIVLFFPDALGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVIALVLSILVLALFPLLHTSNQRGLMFRPISQTLFWILVSDLFILTWIGGQPVEPPFIIIGQVASILYFTIILILFPIAGLIENKLLKW
UniProt ID: Q2N2B5
Variant: T -> A at position 323-323
Variant annotation: in strain: Isolate LVT 403
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:
MTIMRKTHPLMKMVNHAFIDLPTPSNISGWWNFGSLLGLCLILQILTGLFLSMHYTPDTLTAFSSVAHICRDVNYGWLIRYMHANGASLFFICLYFHIGRGIYYGSYLYKETWNIGIILLFLVMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGSSLVEWIWGGFSVDKATLNRFFAFHFILPFIIAAMAMVHLLFLHETGSNNPLGIPSNSDKIPFHPYYSYKDLLGGAALLAFFFTIVLFFPDALGDPDNYTPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVIALVLSILVLALFPLLHTSNQRGLMFRPISQTLFWILVSDLFILTWIGGQPVEPPFIIIGQVASILYFTIILILFPIAGLIENKLLKW
UniProt ID: Q2NL82
Variant: S -> G at position 386-386
Variant annotation: in dbSNP:rs2281726
Protein function: Required during maturation of the 40S ribosomal subunit in the nucleolus.
Reference sequence:
MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKVRKELSRVDQRHRASQLRKQKKEAVLAEKRQLGGKDGPPHQVLVVPLHSRISLPEAMQLLQDRDTGTVHLNELGNTQNFMLLCPRLKHRWFFTSARPGDLHVVLDMAKVADTILFLLDPLEGWDSTGDYCLSCLFAQGLPTYTLAVQGISGLPLKKQIDTRKKLSKAVEKRFPHDKLLLLDTQQEAGMLLRQLANQKQQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISGYVRGQTLNVNRLLHIVGYGDFQMKQIDAPGDPFPLNPRGIKPQKDPDMAMEICATDAVDDMEEGLKVLMKADPGRQESLQAEVIPDPMEGEQTWPTEEELSEAKDFLKESSKVVKKVPKGTSSYQAEWILDGGSQSGGEGDEYEYDDMEHEDFMEEESQDESSEEEEEYETMTIGESVHDDLYDKKVDEEAEAKMLEKYKQERLEEMFPDEVDTPRDVAARIRFQKYRGLKSFRTSPWDPKENLPQDYARIFQFQNFTNTRKSIFKEVEEKEVEGAEVGWYVTLHVSEVPVSVVECFRQGTPLIAFSLLPHEQKMSVLNMVVRRDPGNTEPVKAKEELIFHCGFRRFRASPLFSQHTAADKHKLQRFLTADMALVATVYAPITFPPASVLLFKQKSNGMHSLIATGHLMSVDPDRMVIKRVVLSGHPFKIFTKMAVVRYMFFNREDVLWFKPVELRTKWGRRGHIKEPLGTHGHMKCSFDGKLKSQDTVLMNLYKRVFPKWTYDPYVPEPVPWLKSEISSTVPQGGME
UniProt ID: Q2NL82
Variant: N -> S at position 719-719
Variant annotation: in dbSNP:rs2273983
Protein function: Required during maturation of the 40S ribosomal subunit in the nucleolus.
Reference sequence:
MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKVRKELSRVDQRHRASQLRKQKKEAVLAEKRQLGGKDGPPHQVLVVPLHSRISLPEAMQLLQDRDTGTVHLNELGNTQNFMLLCPRLKHRWFFTSARPGDLHVVLDMAKVADTILFLLDPLEGWDSTGDYCLSCLFAQGLPTYTLAVQGISGLPLKKQIDTRKKLSKAVEKRFPHDKLLLLDTQQEAGMLLRQLANQKQQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISGYVRGQTLNVNRLLHIVGYGDFQMKQIDAPGDPFPLNPRGIKPQKDPDMAMEICATDAVDDMEEGLKVLMKADPGRQESLQAEVIPDPMEGEQTWPTEEELSEAKDFLKESSKVVKKVPKGTSSYQAEWILDGGSQSGGEGDEYEYDDMEHEDFMEEESQDESSEEEEEYETMTIGESVHDDLYDKKVDEEAEAKMLEKYKQERLEEMFPDEVDTPRDVAARIRFQKYRGLKSFRTSPWDPKENLPQDYARIFQFQNFTNTRKSIFKEVEEKEVEGAEVGWYVTLHVSEVPVSVVECFRQGTPLIAFSLLPHEQKMSVLNMVVRRDPGNTEPVKAKEELIFHCGFRRFRASPLFSQHTAADKHKLQRFLTADMALVATVYAPITFPPASVLLFKQKSNGMHSLIATGHLMSVDPDRMVIKRVVLSGHPFKIFTKMAVVRYMFFNREDVLWFKPVELRTKWGRRGHIKEPLGTHGHMKCSFDGKLKSQDTVLMNLYKRVFPKWTYDPYVPEPVPWLKSEISSTVPQGGME
UniProt ID: Q2NL82
Variant: K -> Q at position 727-727
Variant annotation: in dbSNP:rs35019711
Protein function: Required during maturation of the 40S ribosomal subunit in the nucleolus.
Reference sequence:
MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKVRKELSRVDQRHRASQLRKQKKEAVLAEKRQLGGKDGPPHQVLVVPLHSRISLPEAMQLLQDRDTGTVHLNELGNTQNFMLLCPRLKHRWFFTSARPGDLHVVLDMAKVADTILFLLDPLEGWDSTGDYCLSCLFAQGLPTYTLAVQGISGLPLKKQIDTRKKLSKAVEKRFPHDKLLLLDTQQEAGMLLRQLANQKQQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISGYVRGQTLNVNRLLHIVGYGDFQMKQIDAPGDPFPLNPRGIKPQKDPDMAMEICATDAVDDMEEGLKVLMKADPGRQESLQAEVIPDPMEGEQTWPTEEELSEAKDFLKESSKVVKKVPKGTSSYQAEWILDGGSQSGGEGDEYEYDDMEHEDFMEEESQDESSEEEEEYETMTIGESVHDDLYDKKVDEEAEAKMLEKYKQERLEEMFPDEVDTPRDVAARIRFQKYRGLKSFRTSPWDPKENLPQDYARIFQFQNFTNTRKSIFKEVEEKEVEGAEVGWYVTLHVSEVPVSVVECFRQGTPLIAFSLLPHEQKMSVLNMVVRRDPGNTEPVKAKEELIFHCGFRRFRASPLFSQHTAADKHKLQRFLTADMALVATVYAPITFPPASVLLFKQKSNGMHSLIATGHLMSVDPDRMVIKRVVLSGHPFKIFTKMAVVRYMFFNREDVLWFKPVELRTKWGRRGHIKEPLGTHGHMKCSFDGKLKSQDTVLMNLYKRVFPKWTYDPYVPEPVPWLKSEISSTVPQGGME
UniProt ID: Q2NL82
Variant: H -> Q at position 750-750
Variant annotation: in dbSNP:rs35343613
Protein function: Required during maturation of the 40S ribosomal subunit in the nucleolus.
Reference sequence:
MAAHRPGPLKQQNKAHKGGRHRGRGSAQRDGKGRLALKTLSKKVRKELSRVDQRHRASQLRKQKKEAVLAEKRQLGGKDGPPHQVLVVPLHSRISLPEAMQLLQDRDTGTVHLNELGNTQNFMLLCPRLKHRWFFTSARPGDLHVVLDMAKVADTILFLLDPLEGWDSTGDYCLSCLFAQGLPTYTLAVQGISGLPLKKQIDTRKKLSKAVEKRFPHDKLLLLDTQQEAGMLLRQLANQKQQHLAFRDRRAYLFAHAVDFVPSEENNLVGTLKISGYVRGQTLNVNRLLHIVGYGDFQMKQIDAPGDPFPLNPRGIKPQKDPDMAMEICATDAVDDMEEGLKVLMKADPGRQESLQAEVIPDPMEGEQTWPTEEELSEAKDFLKESSKVVKKVPKGTSSYQAEWILDGGSQSGGEGDEYEYDDMEHEDFMEEESQDESSEEEEEYETMTIGESVHDDLYDKKVDEEAEAKMLEKYKQERLEEMFPDEVDTPRDVAARIRFQKYRGLKSFRTSPWDPKENLPQDYARIFQFQNFTNTRKSIFKEVEEKEVEGAEVGWYVTLHVSEVPVSVVECFRQGTPLIAFSLLPHEQKMSVLNMVVRRDPGNTEPVKAKEELIFHCGFRRFRASPLFSQHTAADKHKLQRFLTADMALVATVYAPITFPPASVLLFKQKSNGMHSLIATGHLMSVDPDRMVIKRVVLSGHPFKIFTKMAVVRYMFFNREDVLWFKPVELRTKWGRRGHIKEPLGTHGHMKCSFDGKLKSQDTVLMNLYKRVFPKWTYDPYVPEPVPWLKSEISSTVPQGGME
UniProt ID: Q2PPJ7
Variant: S -> N at position 492-492
Variant annotation: in dbSNP:rs6137081
Protein function: Catalytic subunit of the heterodimeric RalGAP2 complex which acts as a GTPase activator for the Ras-like small GTPases RALA and RALB.
Reference sequence:
MFSRRSHGDVKKSTQKVLDPKKDVLTRLKHLRALLDNVDANDLKQFFETNYSQIYFIFYENFIALENSLKLKGNNKSQREELDSILFLFEKILQFLPERIFFRWHYQSIGSTLKKLLHTGNSIKIRCEGIRLFLLWLQALQTNCAEEQVLIFACLVPGFPAVMSSRGPCTLETLINPSPSVADVKIYPEEITPLLPAISGEKIAEDQTCFFLQILLKYMVIQAASLEWKNKENQDTGFKFLFTLFRKYYLPHLFPSFTKLTNIYKPVLDIPHLRPKPVYITTTRDNENIYSTKIPYMAARVVFIKWIVTFFLEKKYLTATQNTKNGVDVLPKIIQTVGGGAVQERAPELDGGGPTEQDKSHSNSSTLSDRRLSNSSLCSIEEEHRMVYEMVQRILLSTRGYVNFVNEVFHQAFLLPSCEIAVTRKVVQVYRKWILQDKPVFMEEPDRKDVAQEDAEKLGFSETDSKEASSESSGHKRSSSWGRTYSFTSAMSRGCVTEEENTNVKAGVQALLQVFLTNSANIFLLEPCAEVPVLLKEQVDACKAVLIIFRRMIMELTMNKKTWEQMLQILLRITEAVMQKPKDKQIKDLFAQSLAGLLFRTLMVAWIRANLCVYISRELWDDFLGVLSSLTEWEELINEWANIMDSLTAVLARTVYGVEMTNLPLDKLSEQKEKKQRGKGCVLDPQKGTTVGRSFSLSWRSHPDVTEPMRFRSATTSGAPGVEKARNIVRQKATEVEECQQSENAPAAGSGHLTVGQQQQVLRSSSTSDIPEPLCSDSSQGQKAENTQNSSSSEPQPIQENKGHVKREHEGITILVRRSSSPAELDLKDDLQQTQGKCRERQKSESTNSDTTLGCTNEAELSMGPWQTCEEDPELNTPTDVVADADARHWLQLSPTDASNLTDSSECLTDDCSIIAGGSLTGWHPDSAAVLWRRVLGILGDVNNIQSPKIHARVFCYLYELWYKLAKIRDNLAISLDNQSSPSPPVLIPPLRMFASWLFKAATLPNEYKEGKLQAYRLICAMMTRRQDVLPNSDFLVHFYLVMHLGLTSEDQDILNTIIRHCPPRFFSLGFPGFSMLVGDFITAAARVLSTDILTAPRSEAVTVLGSLVCFPNTYQEIPLLQSVPEVNEAITGTEDVKHYLINILLKNATEEPNEYARCIAVCSLGVWICEELAQCTSHPQVKEAINVIGVTLKFPNKIVAQVACDVLQLLVSYWEKLQMFETSLPRKMAEILVATVAFLLPSAEYSSVETDKKFIVSLLLCLLDWCMALPVSVLLHPVSTAVLEEQHSARAPLLDYIYRVLHCCVCGSSTYTQQSHYILTLADLSSTDYDPFLPLANVKSSEPVQYHSSAELGNLLTVEEEKKRRSLELIPLTARMVMAHLVNHLGHYPLSGGPAILHSLVSENHDNAHVEGSELSFEVFRSPNLQLFVFNDSTLISYLQTPTEGPVGGSPVGSLSDVRVIVRDISGKYSWDGKVLYGPLEGCLAPNGRNPSFLISSWHRDTFGPQKDSSQVEEGDDVLDKLLENIGHTSPECLLPSQLNLNEPSLTPCGMNYDQEKEIIEVILRQNAQEDEYIQSHNFDSAMKVTSQGQPSPVEPRGPFYFCRLLLDDLGMNSWDRRKNFHLLKKNSKLLRELKNLDSRQCRETHKIAVFYIAEGQEDKCSILSNERGSQAYEDFVAGLGWEVDLSTHCGFMGGLQRNGSTGQTAPYYATSTVEVIFHVSTRMPSDSDDSLTKKLRHLGNDEVHIVWSEHSRDYRRGIIPTAFGDVSIIIYPMKNHMFFIAITKKPEVPFFGPLFDGAIVSGKLLPSLVCATCINASRAVKCLIPLYQSFYEERALYLEAIIQNHREVMTFEDFAAQVFSPSPSYSLSGTD
UniProt ID: Q2QD39
Variant: I -> T at position 83-83
Variant annotation: in strain: cv. Borszczagowski
Protein function: NDH shuttles electrons from NAD(P)H:plastoquinone, via FMN and iron-sulfur (Fe-S) centers, to quinones in the photosynthetic chain and possibly in a chloroplast respiratory chain. The immediate electron acceptor for the enzyme in this species is believed to be plastoquinone. Couples the redox reaction to proton translocation, and thus conserves the redox energy in a proton gradient.
Reference sequence:
MLEHVLIISAYLFSIGIYGLITSRNMVRALMCLELILNAVNMNFVTFSDFFDSRQLKGNIFSIFVIAIAAAEAAIGPAILSSIYRNRKSTRINQSNLLNK
UniProt ID: Q2QD41
Variant: KYKNHLSVSAITAP -> NIKTIKCKRNNRA at position 93-106
Variant annotation: in cv. Borszczagowski
Protein function: Required during biogenesis of c-type cytochromes (cytochrome c6 and cytochrome f) at the step of heme attachment.
Reference sequence:
MIFSTFEHILTHISFSVISIVITIQLITLLINETVGLYVSSEKGMIATFFCITGLLVTRWIYLRHLPLSDLYESLLFLSWAFSIIHLFTYFKKYKNHLSVSAITAPSTIFTQGFATSGFLTEMHQSPLLVPALQSHWLMMHVSMMVLGYAALLCGSLFSVALIVITFQKAIRIFCKNNNLLNALFSFNEIQYINEGNYFVRNTSFFSSKNYYKSQLIQQLDHWSYRIISLGFIFLSIGILSGAVWANETWGSYWNWDPKETWAFITWTIFAIYLHTRTNKNFEGVNSAIVASMGFLIIWICYFGVNLLGIGLHSYGSFTLTSN
UniProt ID: Q2QD41
Variant: Q -> P at position 125-125
Variant annotation: in cv. Borszczagowski
Protein function: Required during biogenesis of c-type cytochromes (cytochrome c6 and cytochrome f) at the step of heme attachment.
Reference sequence:
MIFSTFEHILTHISFSVISIVITIQLITLLINETVGLYVSSEKGMIATFFCITGLLVTRWIYLRHLPLSDLYESLLFLSWAFSIIHLFTYFKKYKNHLSVSAITAPSTIFTQGFATSGFLTEMHQSPLLVPALQSHWLMMHVSMMVLGYAALLCGSLFSVALIVITFQKAIRIFCKNNNLLNALFSFNEIQYINEGNYFVRNTSFFSSKNYYKSQLIQQLDHWSYRIISLGFIFLSIGILSGAVWANETWGSYWNWDPKETWAFITWTIFAIYLHTRTNKNFEGVNSAIVASMGFLIIWICYFGVNLLGIGLHSYGSFTLTSN
UniProt ID: Q2QD41
Variant: Y -> S at position 192-192
Variant annotation: in cv. Borszczagowski
Protein function: Required during biogenesis of c-type cytochromes (cytochrome c6 and cytochrome f) at the step of heme attachment.
Reference sequence:
MIFSTFEHILTHISFSVISIVITIQLITLLINETVGLYVSSEKGMIATFFCITGLLVTRWIYLRHLPLSDLYESLLFLSWAFSIIHLFTYFKKYKNHLSVSAITAPSTIFTQGFATSGFLTEMHQSPLLVPALQSHWLMMHVSMMVLGYAALLCGSLFSVALIVITFQKAIRIFCKNNNLLNALFSFNEIQYINEGNYFVRNTSFFSSKNYYKSQLIQQLDHWSYRIISLGFIFLSIGILSGAVWANETWGSYWNWDPKETWAFITWTIFAIYLHTRTNKNFEGVNSAIVASMGFLIIWICYFGVNLLGIGLHSYGSFTLTSN
UniProt ID: Q2QD41
Variant: Y -> C at position 225-225
Variant annotation: in cv. Borszczagowski
Protein function: Required during biogenesis of c-type cytochromes (cytochrome c6 and cytochrome f) at the step of heme attachment.
Reference sequence:
MIFSTFEHILTHISFSVISIVITIQLITLLINETVGLYVSSEKGMIATFFCITGLLVTRWIYLRHLPLSDLYESLLFLSWAFSIIHLFTYFKKYKNHLSVSAITAPSTIFTQGFATSGFLTEMHQSPLLVPALQSHWLMMHVSMMVLGYAALLCGSLFSVALIVITFQKAIRIFCKNNNLLNALFSFNEIQYINEGNYFVRNTSFFSSKNYYKSQLIQQLDHWSYRIISLGFIFLSIGILSGAVWANETWGSYWNWDPKETWAFITWTIFAIYLHTRTNKNFEGVNSAIVASMGFLIIWICYFGVNLLGIGLHSYGSFTLTSN
UniProt ID: Q2QD41
Variant: S -> P at position 317-317
Variant annotation: in cv. Borszczagowski
Protein function: Required during biogenesis of c-type cytochromes (cytochrome c6 and cytochrome f) at the step of heme attachment.
Reference sequence:
MIFSTFEHILTHISFSVISIVITIQLITLLINETVGLYVSSEKGMIATFFCITGLLVTRWIYLRHLPLSDLYESLLFLSWAFSIIHLFTYFKKYKNHLSVSAITAPSTIFTQGFATSGFLTEMHQSPLLVPALQSHWLMMHVSMMVLGYAALLCGSLFSVALIVITFQKAIRIFCKNNNLLNALFSFNEIQYINEGNYFVRNTSFFSSKNYYKSQLIQQLDHWSYRIISLGFIFLSIGILSGAVWANETWGSYWNWDPKETWAFITWTIFAIYLHTRTNKNFEGVNSAIVASMGFLIIWICYFGVNLLGIGLHSYGSFTLTSN
UniProt ID: Q2QD80
Variant: D -> Y at position 71-71
Variant annotation: in strain: cv. Baekmibaekdadagi
Protein function: Component of the acetyl coenzyme A carboxylase (ACC) complex. Biotin carboxylase (BC) catalyzes the carboxylation of biotin on its carrier protein (BCCP) and then the CO(2) group is transferred by the transcarboxylase to acetyl-CoA to form malonyl-CoA.
Reference sequence:
MEKRWLNSMLSKGELEYRCRLSKSINSLGPIESEGSIINNMNKNIPSHSDSYNSSYSTVDDLVGIRNFVSDDTFLVRDSNSSSYSIYLDIENQIFEIDNDPSFVSELESSFYSFRNSTYQNNISKNDDSHYDRYMYDTKYSWNNHINSCIDSYLRTQICIDSYILSGSHNYSDSYIYSYICGEGGNSSESESFSIRTSTHGNNLTITESSNDLDNDRTTNYSDFWVICENCHKFNYKRLFKSKMNICEECGYHLKMNSSDRIELLIDPGTWEPMDEDMVSVDPIEWDSEVDPIQWKSQVDPIEGDSEVDLIEGDSEEYKDSSYKDRISSSQIETGLPEAIQTGTGKLNGIPVAIGVMEFEFMGGSMGSVVGEKITRLIDYASNQFLPLILVCASGGARMQEGSLSLMQMAKISSALYDYKYQSNKKLFYVAILTSPTTGGVTASFAMLGDIIIAEPNAYIAFAGKRIIEETLKMEVPEGSQKTEPLFEKGLLDLIVPRNPLKDVVSELFQLHAFVPSNQNSIK
UniProt ID: Q2QD80
Variant: STYQ -> YKYR at position 117-120
Variant annotation: in strain: cv. Baekmibaekdadagi
Protein function: Component of the acetyl coenzyme A carboxylase (ACC) complex. Biotin carboxylase (BC) catalyzes the carboxylation of biotin on its carrier protein (BCCP) and then the CO(2) group is transferred by the transcarboxylase to acetyl-CoA to form malonyl-CoA.
Reference sequence:
MEKRWLNSMLSKGELEYRCRLSKSINSLGPIESEGSIINNMNKNIPSHSDSYNSSYSTVDDLVGIRNFVSDDTFLVRDSNSSSYSIYLDIENQIFEIDNDPSFVSELESSFYSFRNSTYQNNISKNDDSHYDRYMYDTKYSWNNHINSCIDSYLRTQICIDSYILSGSHNYSDSYIYSYICGEGGNSSESESFSIRTSTHGNNLTITESSNDLDNDRTTNYSDFWVICENCHKFNYKRLFKSKMNICEECGYHLKMNSSDRIELLIDPGTWEPMDEDMVSVDPIEWDSEVDPIQWKSQVDPIEGDSEVDLIEGDSEEYKDSSYKDRISSSQIETGLPEAIQTGTGKLNGIPVAIGVMEFEFMGGSMGSVVGEKITRLIDYASNQFLPLILVCASGGARMQEGSLSLMQMAKISSALYDYKYQSNKKLFYVAILTSPTTGGVTASFAMLGDIIIAEPNAYIAFAGKRIIEETLKMEVPEGSQKTEPLFEKGLLDLIVPRNPLKDVVSELFQLHAFVPSNQNSIK
UniProt ID: Q2QDA7
Variant: V -> A at position 102-102
Variant annotation: in cv. Borszczagowski
Protein function: Usually encoded in the trnK tRNA gene intron. Probably assists in splicing its own and other chloroplast group II introns.
Reference sequence:
MEEFQGYLELEKSRQRDFLYPLIFREYIYAFSHDHFLNGSILLENSGYDKKSSLLMVKHLITRMYHQNHFFFFTNYYNKNPFWGYNNNLYSQMLSEGFAVIVEIPLSLRLVSSLEEEEIAKSYNLRSSHSIFPFLEDKFPHLNYVSDVLIPYPLHLEILVQILRSWVKDASSFHLLRFFFHEYCNLNSLSTSKKLISFFSKRNRRLVLLLYNSYVCEYESIFLFLRNQSSHIRLTSYKGLFERIYFYGKIEHLVKVFANYFSAILRVFKDPLIHYVRYQAKSILVSKDTPLLINKWKYYLVNLWQCHFYVWSQPERIYINQLSKRSLDFLGYISSVRLNPSVVWTQMLENSFLIDNATQKLDTLVPIITLLASLAKAKFCNVLGHPISKPTWIDSSDFDIIDRFLRISRNLSHYYRGSSKKKNLYRIQYILRLSCVKTLARKHKSTVRALFKRLNSELLEEFFTEQEQVLSLIFPRTSFTLRRVYRGKIWYLDIICMNDLANHE
UniProt ID: Q2QDA7
Variant: E -> G at position 217-217
Variant annotation: in cv. Borszczagowski
Protein function: Usually encoded in the trnK tRNA gene intron. Probably assists in splicing its own and other chloroplast group II introns.
Reference sequence:
MEEFQGYLELEKSRQRDFLYPLIFREYIYAFSHDHFLNGSILLENSGYDKKSSLLMVKHLITRMYHQNHFFFFTNYYNKNPFWGYNNNLYSQMLSEGFAVIVEIPLSLRLVSSLEEEEIAKSYNLRSSHSIFPFLEDKFPHLNYVSDVLIPYPLHLEILVQILRSWVKDASSFHLLRFFFHEYCNLNSLSTSKKLISFFSKRNRRLVLLLYNSYVCEYESIFLFLRNQSSHIRLTSYKGLFERIYFYGKIEHLVKVFANYFSAILRVFKDPLIHYVRYQAKSILVSKDTPLLINKWKYYLVNLWQCHFYVWSQPERIYINQLSKRSLDFLGYISSVRLNPSVVWTQMLENSFLIDNATQKLDTLVPIITLLASLAKAKFCNVLGHPISKPTWIDSSDFDIIDRFLRISRNLSHYYRGSSKKKNLYRIQYILRLSCVKTLARKHKSTVRALFKRLNSELLEEFFTEQEQVLSLIFPRTSFTLRRVYRGKIWYLDIICMNDLANHE
UniProt ID: Q2QDA7
Variant: GHPISKPTWIDSSDFDIIDRFLRISRNLSHYYRGSSKKKNLYRIQYILRLSCVKTLARKHKSTV -> DIPLVSRPGSIRRILILLIDFCVYPEIFLIITEDPQKKRICIEYNIYFAFLVLKLWLVNTKVLY at position 384-447
Variant annotation: in cv. Borszczagowski
Protein function: Usually encoded in the trnK tRNA gene intron. Probably assists in splicing its own and other chloroplast group II introns.
Reference sequence:
MEEFQGYLELEKSRQRDFLYPLIFREYIYAFSHDHFLNGSILLENSGYDKKSSLLMVKHLITRMYHQNHFFFFTNYYNKNPFWGYNNNLYSQMLSEGFAVIVEIPLSLRLVSSLEEEEIAKSYNLRSSHSIFPFLEDKFPHLNYVSDVLIPYPLHLEILVQILRSWVKDASSFHLLRFFFHEYCNLNSLSTSKKLISFFSKRNRRLVLLLYNSYVCEYESIFLFLRNQSSHIRLTSYKGLFERIYFYGKIEHLVKVFANYFSAILRVFKDPLIHYVRYQAKSILVSKDTPLLINKWKYYLVNLWQCHFYVWSQPERIYINQLSKRSLDFLGYISSVRLNPSVVWTQMLENSFLIDNATQKLDTLVPIITLLASLAKAKFCNVLGHPISKPTWIDSSDFDIIDRFLRISRNLSHYYRGSSKKKNLYRIQYILRLSCVKTLARKHKSTVRALFKRLNSELLEEFFTEQEQVLSLIFPRTSFTLRRVYRGKIWYLDIICMNDLANHE
UniProt ID: Q2QDA8
Variant: S -> K at position 222-222
Variant annotation: in cv. Borszczagowski
Protein function: Photosystem II (PSII) is a light-driven water:plastoquinone oxidoreductase that uses light energy to abstract electrons from H(2)O, generating O(2) and a proton gradient subsequently used for ATP formation. It consists of a core antenna complex that captures photons, and an electron transfer chain that converts photonic excitation into a charge separation. The D1/D2 (PsbA/PsbA) reaction center heterodimer binds P680, the primary electron donor of PSII as well as several subsequent electron acceptors.
Reference sequence:
MTAILERRESESLWGRFCNWITSTENRLYIGWFGVLMIPTLLTATSVFIIAFIAAPPVDIDGIREPVSGSLLYGNNIISGAIIPTSAAIGLHFYPIWEAASVDEWLYNGGPYELIVLHFLLGVACYMGREWELSFRLGMRPWIAVAYSAPVAAATAVFLIYPIGQGSFSDGMPLGISGTFNFMIVFQAEHNILMHPFHMLGVAGVFGGSLFSAMHGSLVTSSLIRETTENESANEGYRFGQEEETYNIVAAHGYFGRLIFQYASFNNSRSLHFFLAAWPVVGIWFTALGISTMAFNLNGFNFNQSVVDSQGRVINTWADIINRANLGMEVMHERNAHNFPLDLAAVEVPSING
UniProt ID: Q2QDA8
Variant: F -> S at position 285-285
Variant annotation: in cv. Borszczagowski
Protein function: Photosystem II (PSII) is a light-driven water:plastoquinone oxidoreductase that uses light energy to abstract electrons from H(2)O, generating O(2) and a proton gradient subsequently used for ATP formation. It consists of a core antenna complex that captures photons, and an electron transfer chain that converts photonic excitation into a charge separation. The D1/D2 (PsbA/PsbA) reaction center heterodimer binds P680, the primary electron donor of PSII as well as several subsequent electron acceptors.
Reference sequence:
MTAILERRESESLWGRFCNWITSTENRLYIGWFGVLMIPTLLTATSVFIIAFIAAPPVDIDGIREPVSGSLLYGNNIISGAIIPTSAAIGLHFYPIWEAASVDEWLYNGGPYELIVLHFLLGVACYMGREWELSFRLGMRPWIAVAYSAPVAAATAVFLIYPIGQGSFSDGMPLGISGTFNFMIVFQAEHNILMHPFHMLGVAGVFGGSLFSAMHGSLVTSSLIRETTENESANEGYRFGQEEETYNIVAAHGYFGRLIFQYASFNNSRSLHFFLAAWPVVGIWFTALGISTMAFNLNGFNFNQSVVDSQGRVINTWADIINRANLGMEVMHERNAHNFPLDLAAVEVPSING