sujigwak/NVAR huggingface dataset:
UniProt ID: P40818
Variant: A -> G at position 827-827
Variant annotation: in dbSNP:rs1056577
Protein function: Hydrolase that can remove conjugated ubiquitin from proteins and therefore plays an important regulatory role at the level of protein turnover by preventing degradation. Converts both 'Lys-48' an 'Lys-63'-linked ubiquitin chains. Catalytic activity is enhanced in the M phase. Involved in cell proliferation. Required to enter into S phase in response to serum stimulation. May regulate T-cell anergy mediated by RNF128 via the formation of a complex containing RNF128 and OTUB1. Probably regulates the stability of STAM2 and RASGRF1. Regulates endosomal ubiquitin dynamics, cargo sorting, membrane traffic at early endosomes, and maintenance of ESCRT-0 stability. The level of protein ubiquitination on endosomes is essential for maintaining the morphology of the organelle. Deubiquitinates EPS15 and controles tyrosine kinase stability. Removes conjugated ubiquitin from EGFR thus regulating EGFR degradation and downstream MAPK signaling. Involved in acrosome biogenesis through interaction with the spermatid ESCRT-0 complex and microtubules. Deubiquitinates BIRC6/bruce and KIF23/MKLP1. Deubiquitinates BACE1 which inhibits BACE1 lysosomal degradation and modulates BACE-mediated APP cleavage and amyloid-beta formation .
Reference sequence:
MPAVASVPKELYLSSSLKDLNKKTEVKPEKISTKSYVHSALKIFKTAEECRLDRDEERAYVLYMKYVTVYNLIKKRPDFKQQQDYFHSILGPGNIKKAVEEAERLSESLKLRYEEAEVRKKLEEKDRQEEAQRLQQKRQETGREDGGTLAKGSLENVLDSKDKTQKSNGEKNEKCETKEKGAITAKELYTMMTDKNISLIIMDARRMQDYQDSCILHSLSVPEEAISPGVTASWIEAHLPDDSKDTWKKRGNVEYVVLLDWFSSAKDLQIGTTLRSLKDALFKWESKTVLRNEPLVLEGGYENWLLCYPQYTTNAKVTPPPRRQNEEVSISLDFTYPSLEESIPSKPAAQTPPASIEVDENIELISGQNERMGPLNISTPVEPVAASKSDVSPIIQPVPSIKNVPQIDRTKKPAVKLPEEHRIKSESTNHEQQSPQSGKVIPDRSTKPVVFSPTLMLTDEEKARIHAETALLMEKNKQEKELRERQQEEQKEKLRKEEQEQKAKKKQEAEENEITEKQQKAKEEMEKKESEQAKKEDKETSAKRGKEITGVKRQSKSEHETSDAKKSVEDRGKRCPTPEIQKKSTGDVPHTSVTGDSGSGKPFKIKGQPESGILRTGTFREDTDDTERNKAQREPLTRARSEEMGRIVPGLPSGWAKFLDPITGTFRYYHSPTNTVHMYPPEMAPSSAPPSTPPTHKAKPQIPAERDREPSKLKRSYSSPDITQAIQEEEKRKPTVTPTVNRENKPTCYPKAEISRLSASQIRNLNPVFGGSGPALTGLRNLGNTCYMNSILQCLCNAPHLADYFNRNCYQDDINRSNLLGHKGEVAEEFGIIMKALWTGQYRYISPKDFKITIGKINDQFAGYSQQDSQELLLFLMDGLHEDLNKADNRKRYKEENNDHLDDFKAAEHAWQKHKQLNESIIVALFQGQFKSTVQCLTCHKKSRTFEAFMYLSLPLASTSKCTLQDCLRLFSKEEKLTDNNRFYCSHCRARRDSLKKIEIWKLPPVLLVHLKRFSYDGRWKQKLQTSVDFPLENLDLSQYVIGPKNNLKKYNLFSVSNHYGGLDGGHYTAYCKNAARQRWFKFDDHEVSDISVSSVKSSAAYILFYTSLGPRVTDVAT
UniProt ID: P40850
Variant: D -> G at position 30-30
Variant annotation: in strain: 2574, ATCC 24657 / D273-10B, ATCC 200060 / W303, Sigma 1278B, YJM 1129, YJM 270, YJM 627 and YJM 789
Protein function: Involved in 3'-UTR mediated RNA regulation . Binds to RNA-binding and RNA regulatory proteins . Complexes with PAB1-binding protein to promote mRNA interactions with poly(A)-binding protein . Promotes mating-type switching in mother cells by positively regulating HO expression .
Reference sequence:
MAIKSLESFLFERGLVGSYAIEALNNCTLDIDVNHYVSRLLTNKREQYLDAIGGFPTSLKMYLESDLKIFKDFNITPIFVFNGGLTYNQLEASGHFTAASASASISSTTTSSSGTNATTRSNTESVLLQRSRGWTQWNNLISSNQNSYIDQPIQPQEPFRHNTTIDSKAYQNDLIAYFIEHGYMYQVAPYSSWFQLAYLLNSAYIDAIYGPTDCLMLDCVDRFILGMEFPNKEFRFIDRSRVMKDLGCTHEEFIDIAMAVGNDLQPTTLPPLQIYPVPQLFDIALEMVLNTGTNFYAYQLSTTLQNDSKENIQNYQRGISALRYMPVLKDTGKVELFVQEIVVSEEDSEKNNKDGKKSNLSSPSSASSSASPATTVTKNASEKLTYEKSSTKEVRKPRDIPNDVHDFIGQMLPHEYYFYRSIGLVTGKLFDAIVTGVYPEEPPLGGGSSTSYKKLVSKSVEIFKNKEINLLTQPINRYYQIKQIKQVKWYAANEPTTLTNRMSPSMFETINHLIVKTETSDEKEFSISEFITTINGSSNMAKDFISEKVIFPNSVPIESKLNSPFNLLSTNFLRLLVLLEFFTFDFKEKLLEPTRWGEVFLKLNELNIDSKYHESVIIFLVFLKCDVLKLDEEVQPPAPSALSQATLRSYPEESLYVLLITRVLTLFQVDQKPSNYHGPIDKKTLIFRDHLSFIKENLNELFEAVLISSLTSGEFNRLSLDNFGWARKIVRYLPFKLDSPNTIMAMMWEFFLQKYLHNGNAKNDALSLVATEFNTYKSTPNLDEQFVESHRFLLEISKVMQELNAAKLIDENVFKLFTKAVEFTTTALSS
UniProt ID: P40850
Variant: K -> R at position 453-453
Variant annotation: in strain: ATCC 24657 / D273-10B, ATCC 200060 / W303, Sigma 1278B, YJM 1129, YJM 270, YJM 627 and YJM 789
Protein function: Involved in 3'-UTR mediated RNA regulation . Binds to RNA-binding and RNA regulatory proteins . Complexes with PAB1-binding protein to promote mRNA interactions with poly(A)-binding protein . Promotes mating-type switching in mother cells by positively regulating HO expression .
Reference sequence:
MAIKSLESFLFERGLVGSYAIEALNNCTLDIDVNHYVSRLLTNKREQYLDAIGGFPTSLKMYLESDLKIFKDFNITPIFVFNGGLTYNQLEASGHFTAASASASISSTTTSSSGTNATTRSNTESVLLQRSRGWTQWNNLISSNQNSYIDQPIQPQEPFRHNTTIDSKAYQNDLIAYFIEHGYMYQVAPYSSWFQLAYLLNSAYIDAIYGPTDCLMLDCVDRFILGMEFPNKEFRFIDRSRVMKDLGCTHEEFIDIAMAVGNDLQPTTLPPLQIYPVPQLFDIALEMVLNTGTNFYAYQLSTTLQNDSKENIQNYQRGISALRYMPVLKDTGKVELFVQEIVVSEEDSEKNNKDGKKSNLSSPSSASSSASPATTVTKNASEKLTYEKSSTKEVRKPRDIPNDVHDFIGQMLPHEYYFYRSIGLVTGKLFDAIVTGVYPEEPPLGGGSSTSYKKLVSKSVEIFKNKEINLLTQPINRYYQIKQIKQVKWYAANEPTTLTNRMSPSMFETINHLIVKTETSDEKEFSISEFITTINGSSNMAKDFISEKVIFPNSVPIESKLNSPFNLLSTNFLRLLVLLEFFTFDFKEKLLEPTRWGEVFLKLNELNIDSKYHESVIIFLVFLKCDVLKLDEEVQPPAPSALSQATLRSYPEESLYVLLITRVLTLFQVDQKPSNYHGPIDKKTLIFRDHLSFIKENLNELFEAVLISSLTSGEFNRLSLDNFGWARKIVRYLPFKLDSPNTIMAMMWEFFLQKYLHNGNAKNDALSLVATEFNTYKSTPNLDEQFVESHRFLLEISKVMQELNAAKLIDENVFKLFTKAVEFTTTALSS
UniProt ID: P40855
Variant: A -> V at position 85-85
Variant annotation: found in patients with progressive myoclonus epilepsy and dementia; uncertain significance; dbSNP:rs11550119
Protein function: Necessary for early peroxisomal biogenesis. Acts both as a cytosolic chaperone and as an import receptor for peroxisomal membrane proteins (PMPs). Binds and stabilizes newly synthesized PMPs in the cytoplasm by interacting with their hydrophobic membrane-spanning domains, and targets them to the peroxisome membrane by binding to the integral membrane protein PEX3. Excludes CDKN2A from the nucleus and prevents its interaction with MDM2, which results in active degradation of TP53.
Reference sequence:
MAAAEEGCSVGAEADRELEELLESALDDFDKAKPSPAPPSTTTAPDASGPQKRSPGDTAKDALFASQEKFFQELFDSELASQATAEFEKAMKELAEEEPHLVEQFQKLSEAAGRVGSDMTSQQEFTSCLKETLSGLAKNATDLQNSSMSEEELTKAMEGLGMDEGDGEGNILPIMQSIMQNLLSKDVLYPSLKEITEKYPEWLQSHRESLPPEQFEKYQEQHSVMCKICEQFEAETPTDSETTQKARFEMVLDLMQQLQDLGHPPKELAGEMPPGLNFDLDALNLSGPPGASGEQCLIM
UniProt ID: P40925
Variant: A -> V at position 120-120
Variant annotation: in DEE88; decreased protein expression; increased levels of glutamate and glycerol-3-phosphate
Protein function: Catalyzes the reduction of aromatic alpha-keto acids in the presence of NADH . Plays essential roles in the malate-aspartate shuttle and the tricarboxylic acid cycle, important in mitochondrial NADH supply for oxidative phosphorylation .
Reference sequence:
MSEPIRVLVTGAAGQIAYSLLYSIGNGSVFGKDQPIILVLLDITPMMGVLDGVLMELQDCALPLLKDVIATDKEDVAFKDLDVAILVGSMPRREGMERKDLLKANVKIFKSQGAALDKYAKKSVKVIVVGNPANTNCLTASKSAPSIPKENFSCLTRLDHNRAKAQIALKLGVTANDVKNVIIWGNHSSTQYPDVNHAKVKLQGKEVGVYEALKDDSWLKGEFVTTVQQRGAAVIKARKLSSAMSAAKAICDHVRDIWFGTPEGEFVSMGVISDGNSYGVPDDLLYSFPVVIKNKTWKFVEGLPINDFSREKMDLTAKELTEEKESAFEFLSSA
UniProt ID: P40934
Variant: K -> N at position 5-5
Protein function: Membrane bound hemoprotein which function as an electron carrier for several membrane bound oxygenases.
Reference sequence:
MASEKKVLGFEEVSQHNKTKDCWLIISGKVYDVTPFMDDHPGGDEVLLSSTGKDATNDFEDVGHSDTARDMMEKYYIGEIDSSTVPATRTYVAPVQPAYNQDKTPEFMIKILQFLVPILILGLALVVRQYTKKE
UniProt ID: P40937
Variant: A -> T at position 13-13
Variant annotation: in dbSNP:rs5745796
Protein function: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1.
Reference sequence:
METSALKQQEQPAATKIRNLPWVEKYRPQTLNDLISHQDILSTIQKFINEDRLPHLLLYGPPGTGKTSTILACAKQLYKDKEFGSMVLELNASDDRGIDIIRGPILSFASTRTIFKKGFKLVILDEADAMTQDAQNALRRVIEKFTENTRFCLICNYLSKIIPALQSRCTRFRFGPLTPELMVPRLEHVVEEEKVDISEDGMKALVTLSSGDMRRALNILQSTNMAFGKVTEETVYTCTGHPLKSDIANILDWMLNQDFTTAYRNITELKTLKGLALHDILTEIHLFVHRVDFPSSVRIHLLTKMADIEYRLSVGTNEKIQLSSLIAAFQVTRDLIVAEA
UniProt ID: P40938
Variant: L -> V at position 16-16
Variant annotation: in dbSNP:rs3135533
Protein function: The elongation of primed DNA templates by DNA polymerase delta and epsilon requires the action of the accessory proteins proliferating cell nuclear antigen (PCNA) and activator 1.
Reference sequence:
MSLWVDKYRPCSLGRLDYHKEQAAQLRNLVQCGDFPHLLVYGPSGAGKKTRIMCILRELYGVGVEKLRIEHQTITTPSKKKIEISTIASNYHLEVNPSDAGNSDRVVIQEMLKTVAQSQQLETNSQRDFKVVLLTEVDKLTKDAQHALRRTMEKYMSTCRLILCCNSTSKVIPPIRSRCLAVRVPAPSIEDICHVLSTVCKKEGLNLPSQLAHRLAEKSCRNLRKALLMCEACRVQQYPFTADQEIPETDWEVYLRETANAIVSQQTPQRLLEVRGRLYELLTHCIPPEIIMKGLLSELLHNCDGQLKGEVAQMAAYYEHRLQLGSKAIYHLEAFVAKFMALYKKFMEDGLEGMMF
UniProt ID: P41088
Variant: I -> V at position 202-202
Variant annotation: in strain: cv. Cha-0
Protein function: Catalyzes the intramolecular cyclization of bicyclic chalcones into tricyclic (S)-flavanones. Responsible for the isomerization of 4,2',4',6'-tetrahydroxychalcone (also termed chalcone) into naringenin.
Reference sequence:
MSSSNACASPSPFPAVTKLHVDSVTFVPSVKSPASSNPLFLGGAGVRGLDIQGKFVIFTVIGVYLEGNAVPSLSVKWKGKTTEELTESIPFFREIVTGAFEKFIKVTMKLPLTGQQYSEKVTENCVAIWKQLGLYTDCEAKAVEKFLEIFKEETFPPGSSILFALSPTGSLTVAFSKDDSIPETGIAVIENKLLAEAVLESIIGKNGVSPGTRLSVAERLSQLMMKNKDEKEVSDHSVEEKLAKEN
UniProt ID: P41088
Variant: V -> L at position 238-238
Variant annotation: in strain: cv. Gr-5, cv. Gran-2, cv. Gran-3, cv. Gran-5, cv. Gran-7, cv. Gran-8, cv. Gran-10, cv. Ita-0, cv. Ler, cv. Mh-0, cv. Per-1, cv. Rv-1, cv. Rv-3, cv. Rv-4, cv. Rv-5, cv. Rv-8, cv. Wlp-1, cv. Wlp-2, cv. Wlp-3, cv. Wlp-4, cv. Wlp-5, cv. Wlp-6, cv. Wlp-7, cv. Wlp-8, cv. Wlp-9 and cv. Wlp-10
Protein function: Catalyzes the intramolecular cyclization of bicyclic chalcones into tricyclic (S)-flavanones. Responsible for the isomerization of 4,2',4',6'-tetrahydroxychalcone (also termed chalcone) into naringenin.
Reference sequence:
MSSSNACASPSPFPAVTKLHVDSVTFVPSVKSPASSNPLFLGGAGVRGLDIQGKFVIFTVIGVYLEGNAVPSLSVKWKGKTTEELTESIPFFREIVTGAFEKFIKVTMKLPLTGQQYSEKVTENCVAIWKQLGLYTDCEAKAVEKFLEIFKEETFPPGSSILFALSPTGSLTVAFSKDDSIPETGIAVIENKLLAEAVLESIIGKNGVSPGTRLSVAERLSQLMMKNKDEKEVSDHSVEEKLAKEN
UniProt ID: P41088
Variant: N -> NRE at position 246-246
Variant annotation: in strain: cv. Rv-2, cv. Rv-9, cv. Rv-10, cv. Tv-1, cv. Tv-2, cv. TV-6, cv. Tv-7, cv. Tv-8, cv. Tv-9 and cv. Tv-10
Protein function: Catalyzes the intramolecular cyclization of bicyclic chalcones into tricyclic (S)-flavanones. Responsible for the isomerization of 4,2',4',6'-tetrahydroxychalcone (also termed chalcone) into naringenin.
Reference sequence:
MSSSNACASPSPFPAVTKLHVDSVTFVPSVKSPASSNPLFLGGAGVRGLDIQGKFVIFTVIGVYLEGNAVPSLSVKWKGKTTEELTESIPFFREIVTGAFEKFIKVTMKLPLTGQQYSEKVTENCVAIWKQLGLYTDCEAKAVEKFLEIFKEETFPPGSSILFALSPTGSLTVAFSKDDSIPETGIAVIENKLLAEAVLESIIGKNGVSPGTRLSVAERLSQLMMKNKDEKEVSDHSVEEKLAKEN
UniProt ID: P41143
Variant: C -> F at position 27-27
Variant annotation: improved maturation and increased expression at the cell surface; dbSNP:rs1042114
Protein function: G-protein coupled receptor that functions as receptor for endogenous enkephalins and for a subset of other opioids. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain and in opiate-mediated analgesia. Plays a role in developing analgesic tolerance to morphine.
Reference sequence:
MEPAPSAGAELQPPLFANASDAYPSACPSAGANASGPPGARSASSLALAIAITALYSAVCAVGLLGNVLVMFGIVRYTKMKTATNIYIFNLALADALATSTLPFQSAKYLMETWPFGELLCKAVLSIDYYNMFTSIFTLTMMSVDRYIAVCHPVKALDFRTPAKAKLINICIWVLASGVGVPIMVMAVTRPRDGAVVCMLQFPSPSWYWDTVTKICVFLFAFVVPILIITVCYGLMLLRLRSVRLLSGSKEKDRSLRRITRMVLVVVGAFVVCWAPIHIFVIVWTLVDIDRRDPLVVAALHLCIALGYANSSLNPVLYAFLDENFKRCFRQLCRKPCGRPDPSSFSRAREATARERVTACTPSDGPGGGAAA
UniProt ID: P41145
Variant: D -> N at position 374-374
Variant annotation: in dbSNP:rs9282808
Protein function: G-protein coupled opioid receptor that functions as receptor for endogenous alpha-neoendorphins and dynorphins, but has low affinity for beta-endorphins. Also functions as receptor for various synthetic opioids and for the psychoactive diterpene salvinorin A. Ligand binding causes a conformation change that triggers signaling via guanine nucleotide-binding proteins (G proteins) and modulates the activity of down-stream effectors, such as adenylate cyclase. Signaling leads to the inhibition of adenylate cyclase activity. Inhibits neurotransmitter release by reducing calcium ion currents and increasing potassium ion conductance. Plays a role in the perception of pain. Plays a role in mediating reduced physical activity upon treatment with synthetic opioids. Plays a role in the regulation of salivation in response to synthetic opioids. May play a role in arousal and regulation of autonomic and neuroendocrine functions.
Reference sequence:
MDSPIQIFRGEPGPTCAPSACLPPNSSAWFPGWAEPDSNGSAGSEDAQLEPAHISPAIPVIITAVYSVVFVVGLVGNSLVMFVIIRYTKMKTATNIYIFNLALADALVTTTMPFQSTVYLMNSWPFGDVLCKIVISIDYYNMFTSIFTLTMMSVDRYIAVCHPVKALDFRTPLKAKIINICIWLLSSSVGISAIVLGGTKVREDVDVIECSLQFPDDDYSWWDLFMKICVFIFAFVIPVLIIIVCYTLMILRLKSVRLLSGSREKDRNLRRITRLVLVVVAVFVVCWTPIHIFILVEALGSTSHSTAALSSYYFCIALGYTNSSLNPILYAFLDENFKRCFRDFCFPLKMRMERQSTSRVRNTVQDPAYLRDIDGMNKPV
UniProt ID: P41161
Variant: K -> R at position 348-348
Variant annotation: in dbSNP:rs2228269
Protein function: Binds to DNA sequences containing the consensus nucleotide core sequence 5'-GGAA.-3'.
Reference sequence:
MDGFYDQQVPFMVPGKSRSEECRGRPVIDRKRKFLDTDLAHDSEELFQDLSQLQEAWLAEAQVPDDEQFVPDFQSDNLVLHAPPPTKIKRELHSPSSELSSCSHEQALGANYGEKCLYNYCAYDRKPPSGFKPLTPPTTPLSPTHQNPLFPPPQATLPTSGHAPAAGPVQGVGPAPAPHSLPEPGPQQQTFAVPRPPHQPLQMPKMMPENQYPSEQRFQRQLSEPCHPFPPQPGVPGDNRPSYHRQMSEPIVPAAPPPPQGFKQEYHDPLYEHGVPGMPGPPAHGFQSPMGIKQEPRDYCVDSEVPNCQSSYMRGGYFSSSHEGFSYEKDPRLYFDDTCVVPERLEGKVKQEPTMYREGPPYQRRGSLQLWQFLVTLLDDPANAHFIAWTGRGMEFKLIEPEEVARRWGIQKNRPAMNYDKLSRSLRYYYEKGIMQKVAGERYVYKFVCDPDALFSMAFPDNQRPFLKAESECHLSEEDTLPLTHFEDSPAYLLDMDRCSSLPYAEGFAY
UniProt ID: P41181
Variant: L -> V at position 22-22
Variant annotation: in NDI2; dbSNP:rs104894336
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: L -> P at position 28-28
Variant annotation: in NDI2
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: A -> V at position 47-47
Variant annotation: in NDI2; dbSNP:rs995684800
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: Q -> P at position 57-57
Variant annotation: in NDI2; dbSNP:rs28931580
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: G -> R at position 64-64
Variant annotation: in NDI2; loss of water channel activity; dbSNP:rs104894326
Effect: loss
Target: water channel activity
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: N -> S at position 68-68
Variant annotation: in NDI2; dbSNP:rs104894331
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: A -> D at position 70-70
Variant annotation: in NDI2
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: V -> M at position 71-71
Variant annotation: in NDI2; dbSNP:rs149659001
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: G -> R at position 100-100
Variant annotation: in NDI2; dbSNP:rs1303076207
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: G -> V at position 100-100
Variant annotation: in NDI2; dbSNP:rs104894338
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: T -> M at position 108-108
Variant annotation: in NDI2; dbSNP:rs1468828294
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: L -> F at position 121-121
Variant annotation: in dbSNP:rs11169226
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: T -> M at position 125-125
Variant annotation: in NDI2; dbSNP:rs104894333
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: T -> M at position 126-126
Variant annotation: in NDI2; dbSNP:rs104894330
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA
UniProt ID: P41181
Variant: A -> T at position 147-147
Variant annotation: in NDI2; dbSNP:rs104894334
Protein function: Forms a water-specific channel that provides the plasma membranes of renal collecting duct with high permeability to water, thereby permitting water to move in the direction of an osmotic gradient . Plays an essential role in renal water homeostasis .
Reference sequence:
MWELRSIAFSRAVFAEFLATLLFVFFGLGSALNWPQALPSVLQIAMAFGLGIGTLVQALGHISGAHINPAVTVACLVGCHVSVLRAAFYVAAQLLGAVAGAALLHEITPADIRGDLAVNALSNSTTAGQAVTVELFLTLQLVLCIFASTDERRGENPGTPALSIGFSVALGHLLGIHYTGCSMNPARSLAPAVVTGKFDDHWVFWIGPLVGAILGSLLYNYVLFPPAKSLSERLAVLKGLEPDTDWEEREVRRRQSVELHSPQSLPRGTKA