sujigwak/NVAR huggingface dataset:
UniProt ID: P41440
Variant: A -> V at position 558-558
Variant annotation: in dbSNP:rs35786590
Protein function: Antiporter that mediates the import of reduced folates or a subset of cyclic dinucleotides, driven by the export of organic anions . Mechanistically, acts as a secondary active transporter, which exports intracellular organic anions down their concentration gradients to facilitate the uptake of its substrates . Has high affinity for N5-methyltetrahydrofolate, the predominant circulating form of folate . Also able to mediate the import of antifolate drug methotrexate . Also acts as an importer of immunoreactive cyclic dinucleotides, such as cyclic GMP-AMP (2'-3'-cGAMP), an immune messenger produced in response to DNA virus in the cytosol, and its linkage isomer 3'-3'-cGAMP, thus playing a role in triggering larger immune responses . 5-amino-4-imidazolecarboxamide riboside (AICAR), when phosphorylated to AICAR monophosphate, can serve as an organic anion for antiporter activity .
Reference sequence:
MVPSSPAVEKQVPVEPGPDPELRSWRHLVCYLCFYGFMAQIRPGESFITPYLLGPDKNFTREQVTNEITPVLSYSYLAVLVPVFLLTDYLRYTPVLLLQGLSFVSVWLLLLLGHSVAHMQLMELFYSVTMAARIAYSSYIFSLVRPARYQRVAGYSRAAVLLGVFTSSVLGQLLVTVGRVSFSTLNYISLAFLTFSVVLALFLKRPKRSLFFNRDDRGRCETSASELERMNPGPGGKLGHALRVACGDSVLARMLRELGDSLRRPQLRLWSLWWVFNSAGYYLVVYYVHILWNEVDPTTNSARVYNGAADAASTLLGAITSFAAGFVKIRWARWSKLLIAGVTATQAGLVFLLAHTRHPSSIWLCYAAFVLFRGSYQFLVPIATFQIASSLSKELCALVFGVNTFFATIVKTIITFIVSDVRGLGLPVRKQFQLYSVYFLILSIIYFLGAMLDGLRHCQRGHHPRQPPAQGLRSAAEEKAAQALSVQDKGLGGLQPAQSPPLSPEDSLGAVGPASLEQRQSDPYLAQAPAPQAAEFLSPVTTPSPCTLCSAQASGPEAADETCPQLAVHPPGVSKLGLQCLPSDGVQNVNQ
UniProt ID: P41582
Variant: V -> G at position 31-31
Variant annotation: in strain: CT45
Protein function: Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH.
Reference sequence:
AVMGRNLALNIESRGYTVSVFNRSREKTEEVIAENPGKKLVPYYTVKEFVESLETPRRILLMVKAGAGTDAAIDSLKPYLDKGDIIIDGGNTFFQDTIRRNRELSAEGFNFIGTGVSGGEEGALKGPSIMPGGQKEAYELVAPILTKIAAVAEDGEPCVTYIGADGAGHYVKMVHNGIEYGDMQLIAEAYSLLKGGLNLSNEELAETFTEWNKGELNSYLIDITKDIFTKKDEEGKYLVDVILDEAANKGTGKWTSQSSLDLGEPLSLITESVFARYISSLKEQRVAASKVLSGPKAQLAGDKAEFIEKVRRALYLGKIVSYAQGFSQLRAASDEYNWDLNYGEIAKIFRAGCIIRAQFLQKITDAYAENAGIANLLLAPYFKKIADDYQQALRDVVAYAVQNGIPVPTFSAAVAYYDSYRAAVLPANLIQAQRDYFGAHTYKRT
UniProt ID: P41582
Variant: E -> D at position 206-206
Variant annotation: in strain: CT42
Protein function: Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH.
Reference sequence:
AVMGRNLALNIESRGYTVSVFNRSREKTEEVIAENPGKKLVPYYTVKEFVESLETPRRILLMVKAGAGTDAAIDSLKPYLDKGDIIIDGGNTFFQDTIRRNRELSAEGFNFIGTGVSGGEEGALKGPSIMPGGQKEAYELVAPILTKIAAVAEDGEPCVTYIGADGAGHYVKMVHNGIEYGDMQLIAEAYSLLKGGLNLSNEELAETFTEWNKGELNSYLIDITKDIFTKKDEEGKYLVDVILDEAANKGTGKWTSQSSLDLGEPLSLITESVFARYISSLKEQRVAASKVLSGPKAQLAGDKAEFIEKVRRALYLGKIVSYAQGFSQLRAASDEYNWDLNYGEIAKIFRAGCIIRAQFLQKITDAYAENAGIANLLLAPYFKKIADDYQQALRDVVAYAVQNGIPVPTFSAAVAYYDSYRAAVLPANLIQAQRDYFGAHTYKRT
UniProt ID: P41582
Variant: A -> E at position 300-300
Variant annotation: in strain: CT27
Protein function: Catalyzes the oxidative decarboxylation of 6-phosphogluconate to ribulose 5-phosphate and CO(2), with concomitant reduction of NADP to NADPH.
Reference sequence:
AVMGRNLALNIESRGYTVSVFNRSREKTEEVIAENPGKKLVPYYTVKEFVESLETPRRILLMVKAGAGTDAAIDSLKPYLDKGDIIIDGGNTFFQDTIRRNRELSAEGFNFIGTGVSGGEEGALKGPSIMPGGQKEAYELVAPILTKIAAVAEDGEPCVTYIGADGAGHYVKMVHNGIEYGDMQLIAEAYSLLKGGLNLSNEELAETFTEWNKGELNSYLIDITKDIFTKKDEEGKYLVDVILDEAANKGTGKWTSQSSLDLGEPLSLITESVFARYISSLKEQRVAASKVLSGPKAQLAGDKAEFIEKVRRALYLGKIVSYAQGFSQLRAASDEYNWDLNYGEIAKIFRAGCIIRAQFLQKITDAYAENAGIANLLLAPYFKKIADDYQQALRDVVAYAVQNGIPVPTFSAAVAYYDSYRAAVLPANLIQAQRDYFGAHTYKRT
UniProt ID: P41587
Variant: A -> T at position 39-39
Variant annotation: in dbSNP:rs1062609
Protein function: This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C.
Reference sequence:
MRTLLPPALLTCWLLAPVNSIHPECRFHLEIQEEETKCAELLRSQTEKHKACSGVWDNITCWRPANVGETVTVPCPKVFSNFYSKAGNISKNCTSDGWSETFPDFVDACGYSDPEDESKITFYILVKAIYTLGYSVSLMSLATGSIILCLFRKLHCTRNYIHLNLFLSFILRAISVLVKDDVLYSSSGTLHCPDQPSSWVGCKLSLVFLQYCIMANFFWLLVEGLYLHTLLVAMLPPRRCFLAYLLIGWGLPTVCIGAWTAARLYLEDTGCWDTNDHSVPWWVIRIPILISIIVNFVLFISIIRILLQKLTSPDVGGNDQSQYKRLAKSTLLLIPLFGVHYMVFAVFPISISSKYQILFELCLGSFQGLVVAVLYCFLNSEVQCELKRKWRSRCPTPSASRDYRVCGSSFSRNGSEGALQFHRGSRAQSFLQTETSVI
UniProt ID: P41587
Variant: R -> H at position 412-412
Variant annotation: in dbSNP:rs1042620
Protein function: This is a receptor for VIP as well as PACAP-38 and -27, the activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Can be coupled to phospholipase C.
Reference sequence:
MRTLLPPALLTCWLLAPVNSIHPECRFHLEIQEEETKCAELLRSQTEKHKACSGVWDNITCWRPANVGETVTVPCPKVFSNFYSKAGNISKNCTSDGWSETFPDFVDACGYSDPEDESKITFYILVKAIYTLGYSVSLMSLATGSIILCLFRKLHCTRNYIHLNLFLSFILRAISVLVKDDVLYSSSGTLHCPDQPSSWVGCKLSLVFLQYCIMANFFWLLVEGLYLHTLLVAMLPPRRCFLAYLLIGWGLPTVCIGAWTAARLYLEDTGCWDTNDHSVPWWVIRIPILISIIVNFVLFISIIRILLQKLTSPDVGGNDQSQYKRLAKSTLLLIPLFGVHYMVFAVFPISISSKYQILFELCLGSFQGLVVAVLYCFLNSEVQCELKRKWRSRCPTPSASRDYRVCGSSFSRNGSEGALQFHRGSRAQSFLQTETSVI
UniProt ID: P41596
Variant: I -> L at position 60-60
Variant annotation: in strain: Canton-S
Protein function: Receptor for dopamine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Might be involved in the processing of visual information and/or visual learning. Important for Pavlovian conditioning: required in the mushroom body as a receptor conveying unconditional stimuli information, has a role in memory formation for aversive and appetitive learning. Sleep-deprivation-induced impairments in learning can be partially explained through alterations in dopamine signaling, Dop1R1 expression levels are reduced; sleep may have a role in restoring dopamine homeostasis.
Reference sequence:
MYTPHPFGFLIILVPMTNAMRAIAAIAAGVGSVAATVATSTTSSISSSTTIINTSSATTIGGNHTSGSTGFSTNSTLLDADHLPLQLTTAKVDLDIEIDIQLLTNGYDGTTLTSFYNESSWTNASEMDTIVGEEPEPLSLVSIVVVGIFLSVLIFLSVAGNILVCLAIYTERSLRRIGNLFLASLAIADLFVASLVMTFAGVNDLLGYWIFGAQFCDTWVAFDVMCSTASILNLCAISMDRYIHIKDPLRYGRWVTRRVAVITIAAIWLLAAFVSFVPISLGIHRPDQPLIFEDNGKKYPTCALDLTPTYAVVSSCISFYFPCVVMIGIYCRLYCYAQKHVKSIKAVTRPGEVAEKQRYKSIRRPKNQPKKFKVRNLHTHSSPYHVSDHKAAVTVGVIMGVFLICWVPFFCVNITAAFCKTCIGGQTFKILTWLGYSNSAFNPIIYSIFNKEFRDAFKRILTMRNPWCCAQDVGNIHPRNSDRFITDYAAKNVVVMNSGRSSAELEQVSAI
UniProt ID: P41596
Variant: T -> I at position 69-69
Variant annotation: in strain: Canton-S
Protein function: Receptor for dopamine. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. Might be involved in the processing of visual information and/or visual learning. Important for Pavlovian conditioning: required in the mushroom body as a receptor conveying unconditional stimuli information, has a role in memory formation for aversive and appetitive learning. Sleep-deprivation-induced impairments in learning can be partially explained through alterations in dopamine signaling, Dop1R1 expression levels are reduced; sleep may have a role in restoring dopamine homeostasis.
Reference sequence:
MYTPHPFGFLIILVPMTNAMRAIAAIAAGVGSVAATVATSTTSSISSSTTIINTSSATTIGGNHTSGSTGFSTNSTLLDADHLPLQLTTAKVDLDIEIDIQLLTNGYDGTTLTSFYNESSWTNASEMDTIVGEEPEPLSLVSIVVVGIFLSVLIFLSVAGNILVCLAIYTERSLRRIGNLFLASLAIADLFVASLVMTFAGVNDLLGYWIFGAQFCDTWVAFDVMCSTASILNLCAISMDRYIHIKDPLRYGRWVTRRVAVITIAAIWLLAAFVSFVPISLGIHRPDQPLIFEDNGKKYPTCALDLTPTYAVVSSCISFYFPCVVMIGIYCRLYCYAQKHVKSIKAVTRPGEVAEKQRYKSIRRPKNQPKKFKVRNLHTHSSPYHVSDHKAAVTVGVIMGVFLICWVPFFCVNITAAFCKTCIGGQTFKILTWLGYSNSAFNPIIYSIFNKEFRDAFKRILTMRNPWCCAQDVGNIHPRNSDRFITDYAAKNVVVMNSGRSSAELEQVSAI
UniProt ID: P41597
Variant: L -> V at position 45-45
Variant annotation: in dbSNP:rs4987052
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: M -> R at position 61-61
Variant annotation: in PCLUD; likely pathogenic; loss of CCL2 or CCL13 cytokine-mediated signaling pathway; loss of expression at the cell surface; contrary to wild-type, does not rescue CCL2 cytokine-mediated calcium mobilization and cell migration, when transfected in CCR2-null monocytic THP-1 cells; dbSNP:rs752561542
Effect: loss
Target: ccl2 or ccl13 cytokinemediated signaling pathway
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: V -> I at position 64-64
Variant annotation: confers relative resistance to infection by HIV-1; delay in disease progression in African Americans but not in Caucasians; no effect on expression at the cell surface, nor on CCL2 or CCL13 cytokine-mediated signaling pathway; dbSNP:rs1799864
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: L -> R at position 119-119
Variant annotation: in PCLUD; likely pathogenic; loss of CCL2 or CCL13 cytokine-mediated signaling pathway; loss of expression at the cell surface; contrary to wild-type, does not rescue CCL2 or CCL13 cytokine-mediated calcium mobilization and cell migration, when transfected in CCR2-null monocytic THP-1 cells; dbSNP:rs113340633
Effect: loss
Target: ccl2 or ccl13 cytokinemediated signaling pathway
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: L -> F at position 133-133
Variant annotation: no effect on expression at the cell surface, nor on CCL2 or CCL13 cytokine-mediated signaling pathway; the nucleotide substitution creating this missense variant may lead to abnormally low levels of isoform A at the cell surface, while isoform B levels are similar to the wild-type protein
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: T -> N at position 296-296
Variant annotation: in PCLUD; likely pathogenic; loss of CCL2 or CCL13 cytokine-mediated signaling pathway; loss of expression at the cell surface; contrary to wild-type, does not rescue CCL2 cytokine-mediated calcium mobilization and cell migration, when transfected in CCR2-null monocytic THP-1 cells
Effect: loss
Target: ccl2 or ccl13 cytokinemediated signaling pathway
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: F -> L at position 316-316
Variant annotation: no effect on expression at the cell surface, nor on CCL2 or CCL13 cytokine-mediated signaling pathway; dbSNP:rs140816549
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: G -> D at position 355-355
Variant annotation: no effect on expression at the cell surface, nor on CCL2 or CCL13 cytokine-mediated signaling pathway
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41597
Variant: G -> E at position 355-355
Variant annotation: in dbSNP:rs3918387
Protein function: (Microbial infection) Alternative coreceptor with CD4 for HIV-1 infection.
Reference sequence:
MLSTSRSRFIRNTNESGEEVTTFFDYDYGAPCHKFDVKQIGAQLLPPLYSLVFIFGFVGNMLVVLILINCKKLKCLTDIYLLNLAISDLLFLITLPLWAHSAANEWVFGNAMCKLFTGLYHIGYFGGIFFIILLTIDRYLAIVHAVFALKARTVTFGVVTSVITWLVAVFASVPGIIFTKCQKEDSVYVCGPYFPRGWNNFHTIMRNILGLVLPLLIMVICYSGILKTLLRCRNEKKRHRAVRVIFTIMIVYFLFWTPYNIVILLNTFQEFFGLSNCESTSQLDQATQVTETLGMTHCCINPIIYAFVGEKFRSLFHIALGCRIAPLQKPVCGGPGVRPGKNVKVTTQGLLDGRGKGKSIGRAPEASLQDKEGA
UniProt ID: P41636
Variant: E -> G at position 422-422
Protein function: Carboxylate--CoA ligase that may use 4-coumarate as substrate. Follows a two-step reaction mechanism, wherein the carboxylate substrate first undergoes adenylation by ATP, followed by a thioesterification in the presence of CoA to yield the final CoA thioester.
Reference sequence:
MANGIKKVEHLYRSKLPDIEISDHLPLHSYCFERVAEFADRPCLIDGATDRTYCFSEVELISRKVAAGLAKLGLQQGQVVMLLLPNCIEFAFVFMGASVRGAIVTTANPFYKPGEIAKQAKAAGARIIVTLAAYVEKLADLQSHDVLVITIDDAPKEGCQHISVLTEADETQCPAVKIHPDDVVALPYSSGTTGLPKGVMLTHKGLVSSVAQQVDGENPNLYFHSDDVILCVLPLFHIYSLNSVLLCALRAGAATLIMQKFNLTTCLELIQKYKVTVAPIVPPIVLDITKSPIVSQYDVSSVRIIMSGAAPLGKELEDALRERFPKAIFGQGYGMTEAGPVLAMNLAFAKNPFPVKSGSCGTVVRNAQIKILDTETGESLPHNQAGEICIRGPEIMKGYINDPESTAATIDEEGWLHTGDVEYIDDDEEIFIVDRVKEIIKYKGFQVAPAELEALLVAHPSIADAAVVPQKHEEAGEVPVAFVVKSSEISEQEIKEFVAKQVIFYKKIHRVYFVDAIPKSPSGKILRKDLRSRLAAK
UniProt ID: P41637
Variant: L -> M at position 195-195
Protein function: Involved in lignin biosynthesis. Catalyzes the final step specific for the production of lignin monomers. Catalyzes the NADPH-dependent reduction of coniferaldehyde, 5-hydroxyconiferaldehyde, sinapaldehyde, 4-coumaraldehyde and caffeyl aldehyde to their respective alcohols.
Reference sequence:
MGSLESEKTVTGYAARDSSGHLSPYTYNLRKKGPEDVIVKVIYCGICHSDLVQMRNEMGMSHYPMVPGHEVVGIVTEIGSEVKKFKVGEHVGVGCIVGSCRSCGNCNQSMEQYCSKRIWTYNDVNHDGTPTQGGFASSMVVDQMFVVRIPENLPLEQAAPLLCAGVTVFSPMKHFAMTEPGKKCGILGLGGVGHLGVKIAKAFGLHVTVISSSDKKKEEAMEVLGADAYLVSKDTEKMMEAAESLDYIMDTIPVAHPLEPYLALLKTNGKLVMLGVVPEPLHFVTPPLILGRRSIAGSFIGGMEETQETLDFCAEKKVSSMIEVVGLDYINTAMERLEKNDVRYRFVVDVAGSELDN
UniProt ID: P41637
Variant: P -> L at position 287-287
Protein function: Involved in lignin biosynthesis. Catalyzes the final step specific for the production of lignin monomers. Catalyzes the NADPH-dependent reduction of coniferaldehyde, 5-hydroxyconiferaldehyde, sinapaldehyde, 4-coumaraldehyde and caffeyl aldehyde to their respective alcohols.
Reference sequence:
MGSLESEKTVTGYAARDSSGHLSPYTYNLRKKGPEDVIVKVIYCGICHSDLVQMRNEMGMSHYPMVPGHEVVGIVTEIGSEVKKFKVGEHVGVGCIVGSCRSCGNCNQSMEQYCSKRIWTYNDVNHDGTPTQGGFASSMVVDQMFVVRIPENLPLEQAAPLLCAGVTVFSPMKHFAMTEPGKKCGILGLGGVGHLGVKIAKAFGLHVTVISSSDKKKEEAMEVLGADAYLVSKDTEKMMEAAESLDYIMDTIPVAHPLEPYLALLKTNGKLVMLGVVPEPLHFVTPPLILGRRSIAGSFIGGMEETQETLDFCAEKKVSSMIEVVGLDYINTAMERLEKNDVRYRFVVDVAGSELDN
UniProt ID: P41637
Variant: G -> S at position 302-302
Protein function: Involved in lignin biosynthesis. Catalyzes the final step specific for the production of lignin monomers. Catalyzes the NADPH-dependent reduction of coniferaldehyde, 5-hydroxyconiferaldehyde, sinapaldehyde, 4-coumaraldehyde and caffeyl aldehyde to their respective alcohols.
Reference sequence:
MGSLESEKTVTGYAARDSSGHLSPYTYNLRKKGPEDVIVKVIYCGICHSDLVQMRNEMGMSHYPMVPGHEVVGIVTEIGSEVKKFKVGEHVGVGCIVGSCRSCGNCNQSMEQYCSKRIWTYNDVNHDGTPTQGGFASSMVVDQMFVVRIPENLPLEQAAPLLCAGVTVFSPMKHFAMTEPGKKCGILGLGGVGHLGVKIAKAFGLHVTVISSSDKKKEEAMEVLGADAYLVSKDTEKMMEAAESLDYIMDTIPVAHPLEPYLALLKTNGKLVMLGVVPEPLHFVTPPLILGRRSIAGSFIGGMEETQETLDFCAEKKVSSMIEVVGLDYINTAMERLEKNDVRYRFVVDVAGSELDN
UniProt ID: P41637
Variant: E -> K at position 335-335
Protein function: Involved in lignin biosynthesis. Catalyzes the final step specific for the production of lignin monomers. Catalyzes the NADPH-dependent reduction of coniferaldehyde, 5-hydroxyconiferaldehyde, sinapaldehyde, 4-coumaraldehyde and caffeyl aldehyde to their respective alcohols.
Reference sequence:
MGSLESEKTVTGYAARDSSGHLSPYTYNLRKKGPEDVIVKVIYCGICHSDLVQMRNEMGMSHYPMVPGHEVVGIVTEIGSEVKKFKVGEHVGVGCIVGSCRSCGNCNQSMEQYCSKRIWTYNDVNHDGTPTQGGFASSMVVDQMFVVRIPENLPLEQAAPLLCAGVTVFSPMKHFAMTEPGKKCGILGLGGVGHLGVKIAKAFGLHVTVISSSDKKKEEAMEVLGADAYLVSKDTEKMMEAAESLDYIMDTIPVAHPLEPYLALLKTNGKLVMLGVVPEPLHFVTPPLILGRRSIAGSFIGGMEETQETLDFCAEKKVSSMIEVVGLDYINTAMERLEKNDVRYRFVVDVAGSELDN
UniProt ID: P41637
Variant: G -> A at position 352-352
Protein function: Involved in lignin biosynthesis. Catalyzes the final step specific for the production of lignin monomers. Catalyzes the NADPH-dependent reduction of coniferaldehyde, 5-hydroxyconiferaldehyde, sinapaldehyde, 4-coumaraldehyde and caffeyl aldehyde to their respective alcohols.
Reference sequence:
MGSLESEKTVTGYAARDSSGHLSPYTYNLRKKGPEDVIVKVIYCGICHSDLVQMRNEMGMSHYPMVPGHEVVGIVTEIGSEVKKFKVGEHVGVGCIVGSCRSCGNCNQSMEQYCSKRIWTYNDVNHDGTPTQGGFASSMVVDQMFVVRIPENLPLEQAAPLLCAGVTVFSPMKHFAMTEPGKKCGILGLGGVGHLGVKIAKAFGLHVTVISSSDKKKEEAMEVLGADAYLVSKDTEKMMEAAESLDYIMDTIPVAHPLEPYLALLKTNGKLVMLGVVPEPLHFVTPPLILGRRSIAGSFIGGMEETQETLDFCAEKKVSSMIEVVGLDYINTAMERLEKNDVRYRFVVDVAGSELDN
UniProt ID: P41637
Variant: E -> K at position 354-354
Protein function: Involved in lignin biosynthesis. Catalyzes the final step specific for the production of lignin monomers. Catalyzes the NADPH-dependent reduction of coniferaldehyde, 5-hydroxyconiferaldehyde, sinapaldehyde, 4-coumaraldehyde and caffeyl aldehyde to their respective alcohols.
Reference sequence:
MGSLESEKTVTGYAARDSSGHLSPYTYNLRKKGPEDVIVKVIYCGICHSDLVQMRNEMGMSHYPMVPGHEVVGIVTEIGSEVKKFKVGEHVGVGCIVGSCRSCGNCNQSMEQYCSKRIWTYNDVNHDGTPTQGGFASSMVVDQMFVVRIPENLPLEQAAPLLCAGVTVFSPMKHFAMTEPGKKCGILGLGGVGHLGVKIAKAFGLHVTVISSSDKKKEEAMEVLGADAYLVSKDTEKMMEAAESLDYIMDTIPVAHPLEPYLALLKTNGKLVMLGVVPEPLHFVTPPLILGRRSIAGSFIGGMEETQETLDFCAEKKVSSMIEVVGLDYINTAMERLEKNDVRYRFVVDVAGSELDN
UniProt ID: P41732
Variant: E -> K at position 53-53
Variant annotation: in dbSNP:rs17851592
Protein function: May be involved in cell proliferation and cell motility.
Reference sequence:
MASRRMETKPVITCLKTLLIIYSFVFWITGVILLAVGVWGKLTLGTYISLIAENSTNAPYVLIGTGTTIVVFGLFGCFATCRGSPWMLKLYAMFLSLVFLAELVAGISGFVFRHEIKDTFLRTYTDAMQTYNGNDERSRAVDHVQRSLSCCGVQNYTNWSTSPYFLEHGIPPSCCMNETDCNPQDLHNLTVAATKVNQKGCYDLVTSFMETNMGIIAGVAFGIAFSQLIGMLLACCLSRFITANQYEMV
UniProt ID: P41732
Variant: A -> T at position 127-127
Variant annotation: in dbSNP:rs17851593
Protein function: May be involved in cell proliferation and cell motility.
Reference sequence:
MASRRMETKPVITCLKTLLIIYSFVFWITGVILLAVGVWGKLTLGTYISLIAENSTNAPYVLIGTGTTIVVFGLFGCFATCRGSPWMLKLYAMFLSLVFLAELVAGISGFVFRHEIKDTFLRTYTDAMQTYNGNDERSRAVDHVQRSLSCCGVQNYTNWSTSPYFLEHGIPPSCCMNETDCNPQDLHNLTVAATKVNQKGCYDLVTSFMETNMGIIAGVAFGIAFSQLIGMLLACCLSRFITANQYEMV
UniProt ID: P41732
Variant: P -> H at position 172-172
Variant annotation: in XLID58; dbSNP:rs104894951
Protein function: May be involved in cell proliferation and cell motility.
Reference sequence:
MASRRMETKPVITCLKTLLIIYSFVFWITGVILLAVGVWGKLTLGTYISLIAENSTNAPYVLIGTGTTIVVFGLFGCFATCRGSPWMLKLYAMFLSLVFLAELVAGISGFVFRHEIKDTFLRTYTDAMQTYNGNDERSRAVDHVQRSLSCCGVQNYTNWSTSPYFLEHGIPPSCCMNETDCNPQDLHNLTVAATKVNQKGCYDLVTSFMETNMGIIAGVAFGIAFSQLIGMLLACCLSRFITANQYEMV
UniProt ID: P41930
Variant: M -> V at position 19-19
Variant annotation: in strain: Ba194, CECT 10233, M5-7A, M5-7B, M7-8D, MMR2-1, MMR2-3, MMW1-12, ORM1-1, Sgu52E, Y-9, YPS396, YPS400, YPS598, YPS600, YPS602, YPS604, YPS606, YPS608 and YPS610
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41930
Variant: A -> T at position 52-52
Variant annotation: in strain: ATCC 76625 / YPH499, Ba194, Bb32, M1-2A, M2-8, M5-7A, M5-7B, M7-8D, MMR2-1, MMR2-3, MMR2-5, MMW1-15, MMW1-15h2, MMW1-2, MMW1-2h2, MMW1-12, ORM1-1, S288c/ YPH1, Sgu52E, Sgu52F, Y-9, YPS396, YPS400, YPS598, YPS600, YPS602, YPS604, YPS606, YPS608 and YPS610
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41930
Variant: N -> S at position 90-90
Variant annotation: in strain: Ba194, Bb32, M1-2A, M2-8, M5-7A, M5-7B, M7-8D, MMR2-5, MMW1-15h2, MMW1-2h2, Sgu52E, Sgu52F and Y-9
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA