sujigwak/NVAR huggingface dataset:
UniProt ID: Q9MYM4
Variant: R -> G at position 702-702
Protein function: Essential for the degradation of glycogen in lysosomes . Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.
Reference sequence:
MMRWPPCSRPLLGVCTLLSLALLGHILLHDLEVVPRELRGFSQDEIHQACQPGASSPECRGSPRAAPTQCDLPPNSRFDCAPDKGITPQQCEARGCCYMPAEWPPDAQMGQPWCFFPPSYPSYRLENLTTTETGYTATLTRAVPTFFPKDIMTLRLDMLMETESRLHFTIKDPANRRYEVPLETPRVYSQAPFTLYSVEFSEEPFGVVVRRKLDGRVLLNTTVAPLFFADQFLQLSTSLPSQHITGLAEHLGSLMLSTNWTKITLWNRDIAPEPNVNLYGSHPFYLVLEDGGLAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSTSAITRQVVENMTRAYFPLDVQWNDLDYMDARRDFTFNKDHFGDFPAMVQELHQGGRRYIMIVDPAISSSGPAGTYRPYDEGLRRGVFITNETGQPLIGQVWPGLTAFPDFTNPETLDWWQDMVTEFHAQVPFDGMWIDMNEPSNFVRGSVDGCPDNSLENPPYLPGVVGGTLRAATICASSHQFLSTHYDLHNLYGLTEALASHRALVKARGMRPFVISRSTFAGHGRYSGHWTGDVWSNWEQLSYSVPEILLFNLLGVPLVGADICGFLGNTSEELCVRWTQLGAFYPFMRNHNALNSQPQEPYRFSETAQQAMRKAFTLRYVLLPYLYTLFHRAHVRGETVARPLFLEFPEDPSTWTVDRQLLWGEALLITPVLEAEKVEVTGYFPQGTWYDLQTVPMEAFGSLPPPAPLTSVIHSKGQWVTLSAPLDTINVHLRAGHIIPMQGPALTTTESRKQHMALAVALTASGEAQGELFWDDGESLGVLDGGDYTQLIFLAKNNTFVNKLVHVSSEGASLQLRNVTVLGVATAPQQVLCNSVPVSNFTFSPDTETLAIPVSLTMGEQFVISWS
UniProt ID: Q9MYM4
Variant: L -> F at position 779-779
Protein function: Essential for the degradation of glycogen in lysosomes . Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.
Reference sequence:
MMRWPPCSRPLLGVCTLLSLALLGHILLHDLEVVPRELRGFSQDEIHQACQPGASSPECRGSPRAAPTQCDLPPNSRFDCAPDKGITPQQCEARGCCYMPAEWPPDAQMGQPWCFFPPSYPSYRLENLTTTETGYTATLTRAVPTFFPKDIMTLRLDMLMETESRLHFTIKDPANRRYEVPLETPRVYSQAPFTLYSVEFSEEPFGVVVRRKLDGRVLLNTTVAPLFFADQFLQLSTSLPSQHITGLAEHLGSLMLSTNWTKITLWNRDIAPEPNVNLYGSHPFYLVLEDGGLAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSTSAITRQVVENMTRAYFPLDVQWNDLDYMDARRDFTFNKDHFGDFPAMVQELHQGGRRYIMIVDPAISSSGPAGTYRPYDEGLRRGVFITNETGQPLIGQVWPGLTAFPDFTNPETLDWWQDMVTEFHAQVPFDGMWIDMNEPSNFVRGSVDGCPDNSLENPPYLPGVVGGTLRAATICASSHQFLSTHYDLHNLYGLTEALASHRALVKARGMRPFVISRSTFAGHGRYSGHWTGDVWSNWEQLSYSVPEILLFNLLGVPLVGADICGFLGNTSEELCVRWTQLGAFYPFMRNHNALNSQPQEPYRFSETAQQAMRKAFTLRYVLLPYLYTLFHRAHVRGETVARPLFLEFPEDPSTWTVDRQLLWGEALLITPVLEAEKVEVTGYFPQGTWYDLQTVPMEAFGSLPPPAPLTSVIHSKGQWVTLSAPLDTINVHLRAGHIIPMQGPALTTTESRKQHMALAVALTASGEAQGELFWDDGESLGVLDGGDYTQLIFLAKNNTFVNKLVHVSSEGASLQLRNVTVLGVATAPQQVLCNSVPVSNFTFSPDTETLAIPVSLTMGEQFVISWS
UniProt ID: Q9MYM4
Variant: H -> P at position 825-825
Protein function: Essential for the degradation of glycogen in lysosomes . Has highest activity on alpha-1,4-linked glycosidic linkages, but can also hydrolyze alpha-1,6-linked glucans.
Reference sequence:
MMRWPPCSRPLLGVCTLLSLALLGHILLHDLEVVPRELRGFSQDEIHQACQPGASSPECRGSPRAAPTQCDLPPNSRFDCAPDKGITPQQCEARGCCYMPAEWPPDAQMGQPWCFFPPSYPSYRLENLTTTETGYTATLTRAVPTFFPKDIMTLRLDMLMETESRLHFTIKDPANRRYEVPLETPRVYSQAPFTLYSVEFSEEPFGVVVRRKLDGRVLLNTTVAPLFFADQFLQLSTSLPSQHITGLAEHLGSLMLSTNWTKITLWNRDIAPEPNVNLYGSHPFYLVLEDGGLAHGVFLLNSNAMDVVLQPSPALSWRSTGGILDVYIFLGPEPKSVVQQYLDVVGYPFMPPYWGLGFHLCRWGYSTSAITRQVVENMTRAYFPLDVQWNDLDYMDARRDFTFNKDHFGDFPAMVQELHQGGRRYIMIVDPAISSSGPAGTYRPYDEGLRRGVFITNETGQPLIGQVWPGLTAFPDFTNPETLDWWQDMVTEFHAQVPFDGMWIDMNEPSNFVRGSVDGCPDNSLENPPYLPGVVGGTLRAATICASSHQFLSTHYDLHNLYGLTEALASHRALVKARGMRPFVISRSTFAGHGRYSGHWTGDVWSNWEQLSYSVPEILLFNLLGVPLVGADICGFLGNTSEELCVRWTQLGAFYPFMRNHNALNSQPQEPYRFSETAQQAMRKAFTLRYVLLPYLYTLFHRAHVRGETVARPLFLEFPEDPSTWTVDRQLLWGEALLITPVLEAEKVEVTGYFPQGTWYDLQTVPMEAFGSLPPPAPLTSVIHSKGQWVTLSAPLDTINVHLRAGHIIPMQGPALTTTESRKQHMALAVALTASGEAQGELFWDDGESLGVLDGGDYTQLIFLAKNNTFVNKLVHVSSEGASLQLRNVTVLGVATAPQQVLCNSVPVSNFTFSPDTETLAIPVSLTMGEQFVISWS
UniProt ID: Q9MYP4
Variant: R -> Q at position 250-250
Variant annotation: in RN-
Protein function: AMP/ATP-binding subunit of AMP-activated protein kinase (AMPK), an energy sensor protein kinase that plays a key role in regulating cellular energy metabolism. In response to reduction of intracellular ATP levels, AMPK activates energy-producing pathways and inhibits energy-consuming processes: inhibits protein, carbohydrate and lipid biosynthesis, as well as cell growth and proliferation. AMPK acts via direct phosphorylation of metabolic enzymes, and by longer-term effects via phosphorylation of transcription regulators. AMPK also acts as a regulator of cellular polarity by remodeling the actin cytoskeleton; probably by indirectly activating myosin. The AMPK gamma3 subunit is a non-catalytic subunit with a regulatory role in muscle energy metabolism. It mediates binding to AMP, ADP and ATP, leading to AMPK activation or inhibition: AMP-binding results in allosteric activation of alpha catalytic subunit (PRKAA1 or PRKAA2) both by inducing phosphorylation and preventing dephosphorylation of catalytic subunits. ADP also stimulates phosphorylation, without stimulating already phosphorylated catalytic subunit. ATP promotes dephosphorylation of catalytic subunit, rendering the AMPK enzyme inactive.
Reference sequence:
MELAELEQALRRVPGSRGGWELEQLRPEGRGPTTADTPSWSSLGGPKHQEMSFLEQGESRSWPSRAVTTSSERSHGDQGNKASRWTRQEDVEEGGPPGPREGPQSRPVAESTGQEATFPKATPLAQAAPLAEVDNPPTERDILPSDCAASASDSNTDHLDLGIEFSASAASGDELGLVEEKPAPCPSPEVLLPRLGWDDELQKPGAQVYMHFMQEHTCYDAMATSSKLVIFDTMLEIKKAFFALVANGVRAAPLWDSKKQSFVGMLTITDFILVLHRYYRSPLVQIYEIEEHKIETWREIYLQGCFKPLVSISPNDSLFEAVYALIKNRIHRLPVLDPVSGAVLHILTHKRLLKFLHIFGTLLPRPSFLYRTIQDLGIGTFRDLAVVLETAPILTALDIFVDRRVSALPVVNETGQVVGLYSRFDVIHLAAQQTYNHLDMNVGEALRQRTLCLEGVLSCQPHETLGEVIDRIVREQVHRLVLVDETQHLLGVVSLSDILQALVLSPAGIDALGA
UniProt ID: Q9MZS8
Variant: D -> N at position 268-268
Variant annotation: in CONCL; inactive
Protein function: Acid protease active in intracellular protein breakdown. Plays a role in APP processing following cleavage and activation by ADAM30 which leads to APP degradation.
Reference sequence:
LHKFTSNRRTMSEAMGPVEHLIAKGPISKYATREPAVRQGPIPELLTNYMDAQYYGEIGIGTPPQCFTVVFDTGSANLWVPSIHCKLLDIACWVHHKYNSDKSSTYVKNGTTFDIHYGSGSLSGYLSQDTVSVPCNPSSSSPGGVTVQRQTFGEAIKQPGVVFIAAKFDGILGMAYPRISVNNVLPVFDNLMRQKLVDKNVFSFFLNRDPKAQPGEELMLGGTDSKYYRGSLTYHNVTRQAYWQIHMDQLDVGSSLTVCKGGCEAIVDTGTSLMVGPVDEVRELHKAIGAVPLIQGEYMIPCEKVSSLPQVTLKLGGKDYTLSPEDYTLKVSQAGTTVCLSGFMGMDIPPPGGPLWILGDVFIGR
UniProt ID: Q9MZT1
Variant: T -> M at position 268-268
Variant annotation: in MCR; profound effect on the voltage-dependence of activation such that mutant channels have a greatly reduced open probability at voltages near the resting membrane potential of skeletal muscle
Protein function: Voltage-gated chloride channel. Plays an important role in membrane repolarization in skeletal muscle cells after muscle contraction.
Reference sequence:
MQPSQSLRRGGEQSWWGSAPQYQYMPFEHCTSYGLPSENGALQHRLHRDAGLRANTRPTQIYGHYKQQFSDKEQDTGMSKKMGSSESMDSKDEDHYSKCQGCVRRLGHVVRRKLGEDWIFLVLLGLLMALVSWSMDYVSAKSLQAYKWSYYQMQPNLPLQYLVWVTFPLTLILFSAVFCHLISPQAVGSGIPEMKTILRGVILKEYLTLKAFVAKVVALTAGLGSGIPVGKEGPFVHIASICAAVLSKFMSMFCGVYEQPYYYTDMLTVGCAVGVGCCFGTPLGGVLFSIEVTSTYFAVRNYWRGFFAATFSAFVFRVLAVWNKDAVTITALFRTNFRMDFPFDLQELPAFAIIGICCGFLGAVFVYLHRQVMLGVRKHKALSQFLAKHRLLYPGIVTFIIASFTFPPGIGQFMAGELMPREAISTLFDNNTWVKHVGDPESLGRSAVWIHPRVNVIIIIFLFFIMKFWMSIVATTMPIPCGGFMPVFVLGAAFGRLVGEIMAMLFPDGILFDDIIYKILPGGYAVIGAAALTGAVSHTVSTAVICFELTGQIAHILPMMVAVILANMVAQSLQPSLYDSIIQVKKLPYLPDLGWNQLSKFTIFVEDIMVRDVKFVSATCTYGELRTLLQTTTVKTLPLVDSKDSMILLGSVERSELQSLLQRHLGPERRLRVAQDMARKLSELPYDGKGHQGISPEGRRESFAFVDEDEDEDLSGKPELPPLPPPHPLPSAPLSSEESNGPLPSHKQQPEAPEPADQRPSVFRSLLRCLLGRPRPTKKKTTQESMDLVDNMSPEEIEAWEQEQLSQPVCFDYCCIDQSPFQLVEQTSLHKTHTLFSLLGLHLAYVTSMGKLRGVLALEELQKAIEGHTKSGVQLRPPLASFRSTTSTRKNPGGPPPPTEAWSLPEDGTGAPASPEPPAPSPSPAPLLSEAPAKVEGELEELELGESPGLEEELADILQGPSLRSTDEEDEDELIL
UniProt ID: Q9MZV6
Variant: H -> R at position 136-136
Protein function: Thiol protease involved in a variety of inflammatory processes by proteolytically cleaving other proteins, such as the precursors of the inflammatory cytokines interleukin-1 beta (IL1B) and interleukin 18 (IL18) as well as the pyroptosis inducer Gasdermin-D (GSDMD), into active mature peptides. Plays a key role in cell immunity as an inflammatory response initiator: once activated through formation of an inflammasome complex, it initiates a pro-inflammatory response through the cleavage of the two inflammatory cytokines IL1B and IL18, releasing the mature cytokines which are involved in a variety of inflammatory processes. Cleaves a tetrapeptide after an Asp residue at position P1. Also initiates pyroptosis, a programmed lytic cell death pathway, through cleavage of GSDMD. In contrast to cleavage of interleukins IL1B and IL1B, recognition and cleavage of GSDMD is not strictly dependent on the consensus cleavage site but depends on an exosite interface on CASP1 that recognizes and binds the Gasdermin-D, C-terminal (GSDMD-CT) part. Cleaves and activates CASP7 in response to bacterial infection, promoting plasma membrane repair. Upon inflammasome activation, during DNA virus infection but not RNA virus challenge, controls antiviral immunity through the cleavage of CGAS, rendering it inactive. In apoptotic cells, cleaves SPHK2 which is released from cells and remains enzymatically active extracellularly.
Reference sequence:
MADKVLKGKRKQFINSVGMGTVNGLLDELFEKNVLNQEEMERVKCENATVMDKARALIDSVLRKGPRACQIFICHICEEDTHLAETLGLSSSPQSGNSQNTTDSEVAFPPLPASVNNMPGPAEPEESVDALKLCPHENFVKLCKQRAEEIYPIKERKDRTRLALIICNTTFDHLSLRKGADLDVAGMRRLLTDLGYSVHIKEELTAKDMESELRAFAARPEHKSSDSTFLVFMSHGILSGICGTKYSAEGDPDVLAYDTIFQIFNNRNCLSLKDKPKVIIVQACRGENLGELLISDSPAAPMDSTSQMGSSLSQVGDNLEDDAIYKVHVEKDFIAFCSSTPHHVSWRDVNKGSLFITQLITCFQKYSWCFHLEEVFRKVQQSFEKPNVRAQMPTIERLSMTRYFYLFPGH
UniProt ID: Q9MZY0
Variant: Y -> H at position 485-485
Variant annotation: in minor allele
Protein function: A cytochrome P450 monooxygenase involved in the metabolism of fatty acids. Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase). Catalyzes the hydroxylation of carbon-hydrogen bonds. Hydroxylates fatty acids specifically at the omega-1 position displaying the highest catalytic activity for saturated fatty acids. May be involved in the oxidative metabolism of xenobiotics.
Reference sequence:
MAALGITVALLVWMATLMLISIWKQIYSRWKLPPGPFPLPIIGNILQVDIKNVPKSLAKLAEQYGPVFTLYLGSQRTVVLHGYKAVKEVLLDHKNDLSGRGEVFAFQSHKDRGITFNNGPGWKDTRRLSLSTLRDYGMGKRGNEERIQREIPFLLEALRGTRGQPFDPTFLLGFAPFNVIADILFHKHFDYSDQTGLRIQKLFNENFHLLSTGWLQLYNIFPSYLHYLPGSHRKVLRNVAELKDYSLERVKEHQESLDPTCSRDFTDCLLQELQKERYGTEPWYTLDNIAVTVADLFFAGTETTSTTLRYGLLILMKYPEVEEKLHEEIDRVIGPSRVPAIKDRLEMPYMDAVVHEIQRFIDLLPSNLPHVANQDTMFRGYVIPKGTVVIPTLDSVLFDKQEFPDPEKFKPEHFLNENGKFKYSDYFKAFSAGKRVCVGEGLARMELFLFLSAILQHFNLKSLVDPKDIDLSPCTIGFAKIPPHYKLCVVPRSG
UniProt ID: Q9N0E7
Variant: G -> P at position 193-193
Variant annotation: requires 2 nucleotide substitutions
Protein function: Sulfurates the molybdenum cofactor. Sulfation of molybdenum is essential for xanthine dehydrogenase (XDH) and aldehyde oxidase (ADO) enzymes in which molybdenum cofactor is liganded by 1 oxygen and 1 sulfur atom in active form.
Reference sequence:
MAGGAAHPGAELLPFARFLDSSLQPLVYGYGRGTLHELRAREFGRLAGTVYLDHAGTTLFPQSQITSFMKDLMENVYGNPHSQNISSKLTHDTVEQVRFRILAHFHTSPEDYTVIFTSGSTAALKLVAEAFPWVSPGPEGSGSCFCYLTDSHTSVVGMRKITAAMNVSSIPVRPEDMWSAERQDAAAAGDPAGQPPHLFCYPAQSNFSGTRYPLSWIGEVKSGRRRPASRPGKWFVLLDAAAFVGTSPLDLSVHQADFVPISFYKIFGFPTGLGALLVNNRLAALLRKTYFGGGTAAAYLAGDDFYVPRESVAERFEDGTISFLDVIALKHGFDALERLTGGMESIRQHTFTLAQYTYTALSSLRYPNGAPVVQIYSDSDFSSPEVQGPVISFNVLDDHGNVVGYSQVDKMASLHNIHVRTGCFCNTGACQRHLGISDEMVKKHLQAGHVCGDDVDLIDGQPTGSVRISFGYMSTLEDAQAFLRFIIATRLHSSHGQPLPLATPGEAGAPPEDSEAQNAVPAARARGSSSPQEDTSPHSGVWNNSPTAVDAEGLCPPLLEATGTQQTTSEKAADVPDGDLRSHVITNLFLYPIKSCAAFEVIRWPLGSQGLLYDRSWMVVNHNGICLSQKQEPRLCLIQPFIDLQRRIMVIKAQGMEPIEVPLEENSEQVQICQSKVCADRVNTYDCGEKISNWLSKFFGRPYHLIKQSSDFQRNAKKKHGKDQSAHTTATLSLVNEAQYLLINRSSILELQQQLSTSCENGKEELFPMNNLISRFRANIITNGTRAFEEEKWDEISIGSLRFQVLGPCHRCQMICIDQQTGQRNQDVFQKLSERRERKVKFGVYLMHTSLDLSSPCYLSVGSQVLPLLKENMEHHDIPATE
UniProt ID: Q9NFT7
Variant: S -> N at position 194-194
Variant annotation: in strain: HFL97e3_15
Protein function: Catalyzes the phosphorylation of various hexoses to hexose 6-phosphate.
Reference sequence:
MRKSTRLLTHSLFGPVFKILFHNKTVCGGCNRKMPSLVNTEIEAAVKGFLIDQEKMTEVVERMTKEIKMGLAKDTHARAVIKCFVSHVQDLPTGKERGKYLALDLGGSNFRVLLVNLISNSDVETMSKGYNFPQTLMSGSGKALFDFLAECLSEFCHSHGLENESLALGFTFSFPLQQQGLSKGILVAWTKGFSCEGVVGKNVVSLLQEAIDRRGDLKINTVAILNDTVGTLMSCAFYHPNCRIGLIVGTGSNACYVEKTVNAECFEGYQTSPKPSMIINCEWGAFGDNGVLEFVRTSYDKAVDKVTPNPGKQTFEKCISGMYMGELVRLVITDMIAKGFMFHGIISEKIQERWSFKTAYISDVESDAPGEYRNCNKVLSELGILGCQEPDKEALRYICEAVSSRSAKLCACGLVTIINKMNINEVAIGIDGSVYRFHPKYHDMLQYHMKKLLKPGVKFELVVSEDGSGRGAALVAATAVQAKSKL
UniProt ID: Q9NFT7
Variant: S -> T at position 252-252
Variant annotation: in strain: ZIM(S)e3_24
Protein function: Catalyzes the phosphorylation of various hexoses to hexose 6-phosphate.
Reference sequence:
MRKSTRLLTHSLFGPVFKILFHNKTVCGGCNRKMPSLVNTEIEAAVKGFLIDQEKMTEVVERMTKEIKMGLAKDTHARAVIKCFVSHVQDLPTGKERGKYLALDLGGSNFRVLLVNLISNSDVETMSKGYNFPQTLMSGSGKALFDFLAECLSEFCHSHGLENESLALGFTFSFPLQQQGLSKGILVAWTKGFSCEGVVGKNVVSLLQEAIDRRGDLKINTVAILNDTVGTLMSCAFYHPNCRIGLIVGTGSNACYVEKTVNAECFEGYQTSPKPSMIINCEWGAFGDNGVLEFVRTSYDKAVDKVTPNPGKQTFEKCISGMYMGELVRLVITDMIAKGFMFHGIISEKIQERWSFKTAYISDVESDAPGEYRNCNKVLSELGILGCQEPDKEALRYICEAVSSRSAKLCACGLVTIINKMNINEVAIGIDGSVYRFHPKYHDMLQYHMKKLLKPGVKFELVVSEDGSGRGAALVAATAVQAKSKL
UniProt ID: Q9NFT7
Variant: S -> N at position 380-380
Variant annotation: in strain: SC96e3_12.3 and ZIM(S)e3_35
Protein function: Catalyzes the phosphorylation of various hexoses to hexose 6-phosphate.
Reference sequence:
MRKSTRLLTHSLFGPVFKILFHNKTVCGGCNRKMPSLVNTEIEAAVKGFLIDQEKMTEVVERMTKEIKMGLAKDTHARAVIKCFVSHVQDLPTGKERGKYLALDLGGSNFRVLLVNLISNSDVETMSKGYNFPQTLMSGSGKALFDFLAECLSEFCHSHGLENESLALGFTFSFPLQQQGLSKGILVAWTKGFSCEGVVGKNVVSLLQEAIDRRGDLKINTVAILNDTVGTLMSCAFYHPNCRIGLIVGTGSNACYVEKTVNAECFEGYQTSPKPSMIINCEWGAFGDNGVLEFVRTSYDKAVDKVTPNPGKQTFEKCISGMYMGELVRLVITDMIAKGFMFHGIISEKIQERWSFKTAYISDVESDAPGEYRNCNKVLSELGILGCQEPDKEALRYICEAVSSRSAKLCACGLVTIINKMNINEVAIGIDGSVYRFHPKYHDMLQYHMKKLLKPGVKFELVVSEDGSGRGAALVAATAVQAKSKL
UniProt ID: Q9NFT7
Variant: S -> N at position 484-484
Variant annotation: in strain: DPF96e3_23.1, SC96e3_12.3, HFL97e3_8, HFL97e3_12, HFL97e3_16, ZIM(S)e3_24 and ZIM(S)e3_35
Protein function: Catalyzes the phosphorylation of various hexoses to hexose 6-phosphate.
Reference sequence:
MRKSTRLLTHSLFGPVFKILFHNKTVCGGCNRKMPSLVNTEIEAAVKGFLIDQEKMTEVVERMTKEIKMGLAKDTHARAVIKCFVSHVQDLPTGKERGKYLALDLGGSNFRVLLVNLISNSDVETMSKGYNFPQTLMSGSGKALFDFLAECLSEFCHSHGLENESLALGFTFSFPLQQQGLSKGILVAWTKGFSCEGVVGKNVVSLLQEAIDRRGDLKINTVAILNDTVGTLMSCAFYHPNCRIGLIVGTGSNACYVEKTVNAECFEGYQTSPKPSMIINCEWGAFGDNGVLEFVRTSYDKAVDKVTPNPGKQTFEKCISGMYMGELVRLVITDMIAKGFMFHGIISEKIQERWSFKTAYISDVESDAPGEYRNCNKVLSELGILGCQEPDKEALRYICEAVSSRSAKLCACGLVTIINKMNINEVAIGIDGSVYRFHPKYHDMLQYHMKKLLKPGVKFELVVSEDGSGRGAALVAATAVQAKSKL
UniProt ID: Q9NFT7
Variant: L -> I at position 486-486
Variant annotation: in strain: DPF96e3_23.1, SC96e3_12.3, HFL97e3_8, HFL97e3_12, HFL97e3_16 and ZIM(S)e3_24
Protein function: Catalyzes the phosphorylation of various hexoses to hexose 6-phosphate.
Reference sequence:
MRKSTRLLTHSLFGPVFKILFHNKTVCGGCNRKMPSLVNTEIEAAVKGFLIDQEKMTEVVERMTKEIKMGLAKDTHARAVIKCFVSHVQDLPTGKERGKYLALDLGGSNFRVLLVNLISNSDVETMSKGYNFPQTLMSGSGKALFDFLAECLSEFCHSHGLENESLALGFTFSFPLQQQGLSKGILVAWTKGFSCEGVVGKNVVSLLQEAIDRRGDLKINTVAILNDTVGTLMSCAFYHPNCRIGLIVGTGSNACYVEKTVNAECFEGYQTSPKPSMIINCEWGAFGDNGVLEFVRTSYDKAVDKVTPNPGKQTFEKCISGMYMGELVRLVITDMIAKGFMFHGIISEKIQERWSFKTAYISDVESDAPGEYRNCNKVLSELGILGCQEPDKEALRYICEAVSSRSAKLCACGLVTIINKMNINEVAIGIDGSVYRFHPKYHDMLQYHMKKLLKPGVKFELVVSEDGSGRGAALVAATAVQAKSKL
UniProt ID: Q9NJP9
Variant: Y -> I at position 3-3
Protein function: Catalyzes the phosphorylation of glycerol using ATP . Under anoxic conditions, when glycerol 3-phosphate accumulates in the glycosome, it catalyzes the reverse reaction, maintaining the ATP balance . Key enzyme for the survival of bloodstream forms under anoxic conditions .
Reference sequence:
MKYVGSIDQGTTSTRFIIFDERQRPVSVHQVPHTQHTPHPGWLEHDPMEIFRSACKCMSVAIAKLRQKDASFRKIEAIGITNQRETTVAWDRVTKEPLCYAPVWNDLRTYDITKKVTAELGGGDSMFASKITGLPVSTYFAAFKMRWMLENVPAVADACRRGTLCFGTIDTWLMYKLSGGKAFVTDVTNASRTFLMDLRTRKWSPELCEKLKIPMETLPEIRSNSELFGYVETDECGVAAALNERTPIMGSIGDQQSALFGNMCFEKGEAKNTYGTGCFLLMNVGEEARFSKHGLLSTVGFQVGRDGPCYYALEGAIACAGATVEWMRRNMNLFSHITECEKLARSVPGTQGIVFVPAFSGLLAPYWDPSARGTIVGMTLKTTRAHVIRAALQAIALQLNDVVGSMKRDAGLNLSSLRVDGGLSKNGLLMEIQASLLGVDILVPSMHETTALGAALCAGLAAGVWTSLEEVKAVSRRENSWKTVSPSGSAMEREAMIAEWREALKRTKWAKL
UniProt ID: Q9NLA3
Variant: N -> T at position 52-52
Protein function: Binds double-stranded RNA and both single-stranded and double-stranded DNA.
Reference sequence:
MSKEFFWGDSLTGTKKEVKWNPSLDDEDDFDNLDSDGIQHFLFLKQAVLGANAKEGERNVVEIETENFDGDNVKQPLFSLKLGLNESSPLDIGIQPPVTFILTAGSGPVFLSGQHMIEISADDEEELEEDDEEEEEEDEVEVNASPDLPVAKSKKRPLSTSDGTAKKTKMAKLDKDADKKEDDDEEEDDEEEDEVMAMMDDDEDDEDDEDFEGGEDDEEEDEEESDEDEDDEDDNEEEEEEDEDEESPEKPLKTTAKGKKGQMNGTTTAKGDNKPKAKAKTDTKLVKGKAKKKVLALDEIKGKLQESSNVPKKEEKFKNYVRSAFHISEAKKLQDLWGWFRASLQK
UniProt ID: Q9NNX1
Variant: Q -> R at position 18-18
Variant annotation: in dbSNP:rs3828054
Protein function: Involved in the mineralization and structural organization of enamel.
Reference sequence:
MNGTRNWCTLVDVHPEDQAAGSVDILRLTLQGELTGDELEHIAQKAGRKTYAMVSSHSAGHSLASELVESHDGHEEIIKVYLKGRSGDKMIHEKNINQLKSEVQYIQEARNCLQKLREDISSKLDRNLGDSLHRQEIQVVLEKPNGFSQSPTALYSSPPEVDTCINEDVESLRKTVQDLLAKLQEAKRQHQSDCVAFEVTLSRYQREAEQSNVALQREEDRVEQKEAEVGELQRRLLGMETEHQALLAKVREGEVALEELRSNNADCQAEREKAATLEKEVAGLREKIHHLDDMLKSQQRKVRQMIEQLQNSKAVIQSKDATIQELKEKIAYLEAENLEMHDRMEHLIEKQISHGNFSTQARAKTENPGSIRISKPPSPKPMPVIRVVET
UniProt ID: Q9NNX1
Variant: K -> R at position 296-296
Variant annotation: in dbSNP:rs16833395
Protein function: Involved in the mineralization and structural organization of enamel.
Reference sequence:
MNGTRNWCTLVDVHPEDQAAGSVDILRLTLQGELTGDELEHIAQKAGRKTYAMVSSHSAGHSLASELVESHDGHEEIIKVYLKGRSGDKMIHEKNINQLKSEVQYIQEARNCLQKLREDISSKLDRNLGDSLHRQEIQVVLEKPNGFSQSPTALYSSPPEVDTCINEDVESLRKTVQDLLAKLQEAKRQHQSDCVAFEVTLSRYQREAEQSNVALQREEDRVEQKEAEVGELQRRLLGMETEHQALLAKVREGEVALEELRSNNADCQAEREKAATLEKEVAGLREKIHHLDDMLKSQQRKVRQMIEQLQNSKAVIQSKDATIQELKEKIAYLEAENLEMHDRMEHLIEKQISHGNFSTQARAKTENPGSIRISKPPSPKPMPVIRVVET
UniProt ID: Q9NNX6
Variant: E -> D at position 168-168
Variant annotation: in dbSNP:rs1003686123
Protein function: (Microbial infection) Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of bacterial pathogen antigens, including Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri-mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA . Recognition of M.tuberculosis by dendritic cells occurs partially via this molecule .
Reference sequence:
MSDSKEPRLQQLGLLEEEQLRGLGFRQTRGYKSLAGCLGHGPLVLQLLSFTLLAGLLVQVSKVPSSISQEQSRQDAIYQNLTQLKAAVGELSEKSKLQEIYQELTQLKAAVGELPEKSKLQEIYQELTRLKAAVGELPEKSKLQEIYQELTWLKAAVGELPEKSKMQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTQLKAAVERLCHPCPWEWTFFQGNCYFMSNSQRNWHDSITACKEVGAQLVVIKSAEEQNFLQLQSSRSNRFTWMGLSDLNQEGTWQWVDGSPLLPSFKQYWNRGEPNNVGEEDCAEFSGNGWNDDKCNLAKFWICKKSAASCSRDEEQFLSPAPATPNPPPA
UniProt ID: Q9NNX6
Variant: E -> D at position 214-214
Variant annotation: in dbSNP:rs11465377
Protein function: (Microbial infection) Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of bacterial pathogen antigens, including Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri-mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA . Recognition of M.tuberculosis by dendritic cells occurs partially via this molecule .
Reference sequence:
MSDSKEPRLQQLGLLEEEQLRGLGFRQTRGYKSLAGCLGHGPLVLQLLSFTLLAGLLVQVSKVPSSISQEQSRQDAIYQNLTQLKAAVGELSEKSKLQEIYQELTQLKAAVGELPEKSKLQEIYQELTRLKAAVGELPEKSKLQEIYQELTWLKAAVGELPEKSKMQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTQLKAAVERLCHPCPWEWTFFQGNCYFMSNSQRNWHDSITACKEVGAQLVVIKSAEEQNFLQLQSSRSNRFTWMGLSDLNQEGTWQWVDGSPLLPSFKQYWNRGEPNNVGEEDCAEFSGNGWNDDKCNLAKFWICKKSAASCSRDEEQFLSPAPATPNPPPA
UniProt ID: Q9NNX6
Variant: L -> V at position 242-242
Variant annotation: in dbSNP:rs11465380
Protein function: (Microbial infection) Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of bacterial pathogen antigens, including Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri-mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA . Recognition of M.tuberculosis by dendritic cells occurs partially via this molecule .
Reference sequence:
MSDSKEPRLQQLGLLEEEQLRGLGFRQTRGYKSLAGCLGHGPLVLQLLSFTLLAGLLVQVSKVPSSISQEQSRQDAIYQNLTQLKAAVGELSEKSKLQEIYQELTQLKAAVGELPEKSKLQEIYQELTRLKAAVGELPEKSKLQEIYQELTWLKAAVGELPEKSKMQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTQLKAAVERLCHPCPWEWTFFQGNCYFMSNSQRNWHDSITACKEVGAQLVVIKSAEEQNFLQLQSSRSNRFTWMGLSDLNQEGTWQWVDGSPLLPSFKQYWNRGEPNNVGEEDCAEFSGNGWNDDKCNLAKFWICKKSAASCSRDEEQFLSPAPATPNPPPA
UniProt ID: Q9NNX6
Variant: A -> S at position 382-382
Variant annotation: in dbSNP:rs11465393
Protein function: (Microbial infection) Probably recognizes in a calcium-dependent manner high mannose N-linked oligosaccharides in a variety of bacterial pathogen antigens, including Leishmania pifanoi LPG, Lewis-x antigen in Helicobacter pylori LPS, mannose in Klebsiella pneumonae LPS, di-mannose and tri-mannose in Mycobacterium tuberculosis ManLAM and Lewis-x antigen in Schistosoma mansoni SEA . Recognition of M.tuberculosis by dendritic cells occurs partially via this molecule .
Reference sequence:
MSDSKEPRLQQLGLLEEEQLRGLGFRQTRGYKSLAGCLGHGPLVLQLLSFTLLAGLLVQVSKVPSSISQEQSRQDAIYQNLTQLKAAVGELSEKSKLQEIYQELTQLKAAVGELPEKSKLQEIYQELTRLKAAVGELPEKSKLQEIYQELTWLKAAVGELPEKSKMQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTRLKAAVGELPEKSKQQEIYQELTQLKAAVERLCHPCPWEWTFFQGNCYFMSNSQRNWHDSITACKEVGAQLVVIKSAEEQNFLQLQSSRSNRFTWMGLSDLNQEGTWQWVDGSPLLPSFKQYWNRGEPNNVGEEDCAEFSGNGWNDDKCNLAKFWICKKSAASCSRDEEQFLSPAPATPNPPPA
UniProt ID: Q9NP31
Variant: N -> S at position 52-52
Variant annotation: in dbSNP:rs926103
Protein function: Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56-LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation.
Reference sequence:
MEFPLAQICPQGSHEAPIPTFSTFQITDMTRRSCQNLGYTAASPQAPEAASNTGNAERAEEVPGEGSLFLQAETRAWFQKTQAHWLLQHGAAPAWFHGFITRREAERLLEPKPQGCYLVRFSESAVTFVLTYRSRTCCRHFLLAQLRDGRHVVLGEDSAHARLQDLLLHYTAHPLSPYGETLTEPLARQTPEPAGLSLRTEESNFGSKSQDPNPQYSPIIKQGQAPVPMQKEGAGEKEPSQLLRPKPPIPAKPQLPPEVYTIPVPRHRPAPRPKPSNPIYNEPDEPIAFYAMGRGSPGEAPSNIYVEVEDEGLPATLGHPVLRKSWSRPVPGGQNTGGSQLHSENSVIGQGPPLPHQPPPAWRHTLPHNLSRQVLQDRGQAWLPLGPPQ
UniProt ID: Q9NP31
Variant: R -> C at position 272-272
Variant annotation: in dbSNP:rs12072861
Protein function: Could be a T-cell-specific adapter protein involved in the control of T-cell activation. May play a role in the CD4-p56-LCK-dependent signal transduction pathway. Could also play an important role in normal and pathological angiogenesis. Could be an adapter protein that facilitates and regulates interaction of KDR with effector proteins important to endothelial cell survival and proliferation.
Reference sequence:
MEFPLAQICPQGSHEAPIPTFSTFQITDMTRRSCQNLGYTAASPQAPEAASNTGNAERAEEVPGEGSLFLQAETRAWFQKTQAHWLLQHGAAPAWFHGFITRREAERLLEPKPQGCYLVRFSESAVTFVLTYRSRTCCRHFLLAQLRDGRHVVLGEDSAHARLQDLLLHYTAHPLSPYGETLTEPLARQTPEPAGLSLRTEESNFGSKSQDPNPQYSPIIKQGQAPVPMQKEGAGEKEPSQLLRPKPPIPAKPQLPPEVYTIPVPRHRPAPRPKPSNPIYNEPDEPIAFYAMGRGSPGEAPSNIYVEVEDEGLPATLGHPVLRKSWSRPVPGGQNTGGSQLHSENSVIGQGPPLPHQPPPAWRHTLPHNLSRQVLQDRGQAWLPLGPPQ