sujigwak/NVAR huggingface dataset:
UniProt ID: D0QMC3
Variant: Y -> D at position 58-58
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: V -> G at position 100-100
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: G -> R at position 131-131
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: R -> M at position 245-245
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: P -> S at position 297-297
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: D -> E at position 324-324
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: F -> L at position 339-339
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: K -> T at position 436-436
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: KTQ -> NRK at position 438-440
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: S -> I at position 443-443
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: E -> V at position 456-456
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: G -> R at position 459-459
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: R -> S at position 483-483
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: V -> I at position 496-496
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D0QMC3
Variant: N -> D at position 523-523
Variant annotation: in strain: BALB/cAn
Protein function: Suppresses cell growth when expressed ectopically.
Reference sequence:
MAEYKKIVLLKGLESMEDYQFRTVKSLLRKELKLTKKLQEDYDRIQLADWMEDKFPKYAGLDKLIKVCEHIKDLKDLAKKLKTEKAKVQKKKQGKCKTAVKKKGQDELSSSESLFINKESYKSVPSSKKKGKAIAKTEGEKKNKLTQDQDHLPETSGTDIKTEEDCLQNSPKPPPTSPSSSSNKKKRKEITKTEGGKKKKLTQEQAQLPEPLGTDIKKDEDCLQTPPKPPPTPPSSSLNKKRKSRREEETGVKKSKAAKEPDQPPCCEEPTARCQSPILHSSSSASSNIPSATNQKPQPQNQNIPRGAVLHSEPLTVMVLTATDPFEYESPEHEVKNMFHATVATVSQYFHVKVFNINLKEKFTKKNFIIISNYFESKGILEINETSSVLKADPDQMIEVPNNIIRNANASPKICDIQKGTSGAVFYGVFTLHKKKVKTQNTSYEIKDGSGSIEVEGSGQWHNINCKEGDKLHLFCFHLKRERGQPKLVCGDHSFVKIKVTKAGKKKEASTVLSSTKNEEENNYPKDGIKVEMPDYHV
UniProt ID: D1GY43
Variant: E -> A at position 373-373
Variant annotation: in strain: BKK11, BKK13, BKK16, BKK4, BKK5, BKK7 and BKK8
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIAELKVELEEQKTSNRQARSRIDRMSAEVVDSNPYSRLMALQRMNIVKEYERIRDKAVAVVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVEAAARTLNFINPDVQIETHNYNITTVDNFDRFLATITESGKELGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALNDFFPRMTLKPNPQCDDRNCLLRQKEFQARPKPIEVKEDVSSSDEPLHATNEWGIELVADDEPVNCPEPAKSSAVVQGLKLAYEAPEKEKVEEENVATVSDETSLEDLMAQMKSM
UniProt ID: D1GY43
Variant: E -> G at position 373-373
Variant annotation: in strain: BKK9
Protein function: E1-like enzyme which activates UFM1.
Reference sequence:
MSHAIDELQAIIAELKVELEEQKTSNRQARSRIDRMSAEVVDSNPYSRLMALQRMNIVKEYERIRDKAVAVVGVGGVGSVTADMLTRCGIGKLILFDYDKVELANMNRLFFTPDQAGLSKVEAAARTLNFINPDVQIETHNYNITTVDNFDRFLATITESGKELGQPVDLVLSCVDNFEARMAINAACNERNLNWFESGVSENAVSGHIQFIRPGDTACFACAPPLVVAENIDEKTLKREGVCAASLPTTMGITAGFLVQNALKYLLNFGEVSDYLGYNALNDFFPRMTLKPNPQCDDRNCLLRQKEFQARPKPIEVKEDVSSSDEPLHATNEWGIELVADDEPVNCPEPAKSSAVVQGLKLAYEAPEKEKVEEENVATVSDETSLEDLMAQMKSM
UniProt ID: D4HRK4
Variant: A -> K at position 29-29
Protein function: Alpha-conotoxins bind to the nicotinic acetylcholine receptors (nAChR) and inhibit them. This peptide potently blocks muscular nicotinic acetylcholine receptor (CHRNA1-CHRNB1-CHRNG-CHRND), and has no effect on neuronal receptors. It is able to totally displace [125I]-Bgtx from the Torpedo receptor with a complete inhibition in the high micromolar range. It produces a biphasic inhibition curve which fits nicely with a two-site model (Ki of 0.46 and 105 nM).
Reference sequence:
MFIVFLLVVLATTVGSFTLDRVLEGRNAAAIDNALDQRDPKRQTPGCCWNPACVKNRCGRR
UniProt ID: D6RGH6
Variant: G -> D at position 366-366
Variant annotation: in CILD42; reduced number of cilia and basal bodies; dbSNP:rs797045151
Protein function: Transcription regulator specifically required for multiciliate cell differentiation . Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway . Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 .
Reference sequence:
MQACGGGAAGRRAFDSICPNRMLALPGRALLCKPGKPERKFAPPRKFFPGCTGGSPVSVYEDPPDAEPTALPALTTIDLQDLADCSSLLGSDAPPGGDLAASQNHSHQTEADFNLQDFRDTVDDLISDSSSMMSPTLASGDFPFSPCDISPFGPCLSPPLDPRALQSPPLRPPDVPPPEQYWKEVADQNQRALGDALVENNQLHVTLTQKQEEIASLKERNVQLKELASRTRHLASVLDKLMITQSRDCGAAAEPFLLKAKAKRSLEELVSAAGQDCAEVDAILREISERCDEALQSRDPKRPRLLPEPANTDTRPGNLHGAFRGLRTDCSRSALNLSHSELEEGGSFSTRIRSHSTIRTLAFPQGNAFTIRTANGGYKFRWVPS
UniProt ID: D6RGH6
Variant: R -> H at position 381-381
Variant annotation: in CILD42; reduced expression; reduced number of cilia and basal bodies; dbSNP:rs797045152
Protein function: Transcription regulator specifically required for multiciliate cell differentiation . Acts in a multiprotein complex containing E2F4 and E2F5 that binds and activates genes required for centriole biogenesis. Required for the deuterosome-mediated acentriolar pathway . Plays a role in mitotic cell cycle progression by promoting cell cycle exit. Modulates GMNN activity by reducing its affinity for CDT1 .
Reference sequence:
MQACGGGAAGRRAFDSICPNRMLALPGRALLCKPGKPERKFAPPRKFFPGCTGGSPVSVYEDPPDAEPTALPALTTIDLQDLADCSSLLGSDAPPGGDLAASQNHSHQTEADFNLQDFRDTVDDLISDSSSMMSPTLASGDFPFSPCDISPFGPCLSPPLDPRALQSPPLRPPDVPPPEQYWKEVADQNQRALGDALVENNQLHVTLTQKQEEIASLKERNVQLKELASRTRHLASVLDKLMITQSRDCGAAAEPFLLKAKAKRSLEELVSAAGQDCAEVDAILREISERCDEALQSRDPKRPRLLPEPANTDTRPGNLHGAFRGLRTDCSRSALNLSHSELEEGGSFSTRIRSHSTIRTLAFPQGNAFTIRTANGGYKFRWVPS
UniProt ID: E5EZW6
Variant: L -> V at position 477-477
Protein function: Plays an olfactory role that is not restricted to pheromone sensitivity.
Reference sequence:
MQLQKPLKIGLGMMGAGLFGIIFGWVLFPVILKSQLKKEMALSKKTDVRAMWEKIPFALDFKVYMFNYTNVEEIMKGAAPIVKEIGPFHFDEWKEKVDIEDHDEDDTITYKKRDYFYFRPDKSGPGLTGEEVVVMPHLLMLSMATIVNNDKPAMLNMLGKAFNGIFDEPKDIFMRVKVLDLLFRGIIINCARTEFAPKAVCTALKKEGATGMTFEPNNQFRFSLFGMRNGTIDPHVVTVRRGIKNVMDVGKVIAIDGKTEQDVWRDKCNEFEGTDGTVFPPFLTEKDNLESFSGDLCRSFKPWYQKKTSYRGIKTNRYVANIGDFANDPELQCYCDSPDKCPPKGLMDLMKCMKAPMYASLPHYLDSDPQLLKDVKGLSPDANEHGIEIDFEPISGTPMVAKQRVQFNIILLKADKMDLIKDLPGTMTPLFWIEEGLALNKTFVKMLKNQLFIPKRIVSVVKWLLAGVGFVGLVGSLVYQFKGKMINFALSPSSAPVTKVNPEINQQNQPKDISIIGESQNPPKVDM
UniProt ID: E9D2Q2
Variant: R -> S at position 222-222
Variant annotation: in strain: IFM 45817, IFM 50993, IFM 54196 and RMSCC 1036 / AZ1
Protein function: May participate in wall plasticization and/or intussusception or in cell wall turnover.
Reference sequence:
MASPVTVLENPIPKSGQHLLFFLTSKQQLALEQRPIESSLGYSAYVDHGVSQGVIVNPSSIAAAMRSSLITVYGITKPGTDKQYISVISPTYNLIANRQNQPIETTQKALAACSDNDRNNWVYYLNLPQGTAQYAIYELNIQDSTSAPTVYSGPTPSGNSNLAAVYFSPNKDRFIIFSNTDTRHYLYWVNSTLQSGNRIAGTGSVMSASPLAATTITNVQTRSMTIFLYYMDVNTLLNRIVGKVTDNEVHWYANQVVEGAPPMKVDTLLTGVVVEEKWNCLYYIPDGDTEFRAFNDTIRDSFFDEPREG
UniProt ID: E9D2Q2
Variant: N -> D at position 247-247
Variant annotation: in strain: IFM 45812, IFM 4935, IFM 51112 and RMSCC 2128 / TX1
Protein function: May participate in wall plasticization and/or intussusception or in cell wall turnover.
Reference sequence:
MASPVTVLENPIPKSGQHLLFFLTSKQQLALEQRPIESSLGYSAYVDHGVSQGVIVNPSSIAAAMRSSLITVYGITKPGTDKQYISVISPTYNLIANRQNQPIETTQKALAACSDNDRNNWVYYLNLPQGTAQYAIYELNIQDSTSAPTVYSGPTPSGNSNLAAVYFSPNKDRFIIFSNTDTRHYLYWVNSTLQSGNRIAGTGSVMSASPLAATTITNVQTRSMTIFLYYMDVNTLLNRIVGKVTDNEVHWYANQVVEGAPPMKVDTLLTGVVVEEKWNCLYYIPDGDTEFRAFNDTIRDSFFDEPREG
UniProt ID: E9D2Q2
Variant: V -> I at position 249-249
Variant annotation: in strain: IFM 45811, IFM 45812, IFM 45813, IFM 45817, IFM 4935, IFM 4945, IFM 50993, IFM 50994, IFM 51112, IFM 54194, IFM 54195, IFM 54196, RMSCC 1036 / AZ1, RMSCC 1045 / AZ2 and RMSCC 2128 / TX1
Protein function: May participate in wall plasticization and/or intussusception or in cell wall turnover.
Reference sequence:
MASPVTVLENPIPKSGQHLLFFLTSKQQLALEQRPIESSLGYSAYVDHGVSQGVIVNPSSIAAAMRSSLITVYGITKPGTDKQYISVISPTYNLIANRQNQPIETTQKALAACSDNDRNNWVYYLNLPQGTAQYAIYELNIQDSTSAPTVYSGPTPSGNSNLAAVYFSPNKDRFIIFSNTDTRHYLYWVNSTLQSGNRIAGTGSVMSASPLAATTITNVQTRSMTIFLYYMDVNTLLNRIVGKVTDNEVHWYANQVVEGAPPMKVDTLLTGVVVEEKWNCLYYIPDGDTEFRAFNDTIRDSFFDEPREG
UniProt ID: E9P8D2
Variant: G -> E at position 85-85
Variant annotation: in allele MPR2
Protein function: N-acetyltransferase involved in oxidative stress resistance. Acetylates the toxic proline metabolism intermediate (S)-1-pyrroline-5-carboxylate (P5C), or more likely its spontaneously forming tautomer glutamate-5-semialdehyde (GSA) into N-acetyl-GSA for arginine synthesis in the mitochondria. P5C has been shown to increase the levels of reactive oxigen species (ROS) in the cell by inhibiting the function of the respiratory chain in the mitochondria. The enzyme is able to reduce intracellular ROS levels under P5C-induced oxidative stress and protects cells from damage by oxidative stress . Also acetylates and thereby detoxifies the proline analog azetidine-2-carboxylate (AZC), however it is unlikely that AZC is a natural substrate as it occurs only in plants belonging to the Lilaceae family . Does not acetylate proline .
Reference sequence:
MDAESIEWKLTANLRNGPTFFQPLADSIEPLQFKLIGSDTVATAFPVFDTKYIPDSLINYLFKLFNLEIESGKTYPQLHSLTKQGFLNYWFHSFAVVVLQTDEKFIQDNQDWNSVLLGTFYIKPNYAPRCSHNCNAGFLVNGAHRGQKVGYRLAQVYLNWAPLLGYKYSIFNLVFVTNQASWKIWDKLNFQRIGLVPHAGILNGFSEPVDAIIYGKDLTKIEPEFLSME
UniProt ID: E9Q9A9
Variant: Q -> R at position 232-232
Variant annotation: in strain: C3H/He
Protein function: Interferon-induced, dsRNA-activated antiviral enzyme which plays a critical role in cellular innate antiviral response . Activated by detection of double stranded RNA (dsRNA): polymerizes higher oligomers of 2'-5'-oligoadenylates (2-5A) from ATP which then bind to the inactive monomeric form of ribonuclease L (RNASEL) leading to its dimerization and subsequent activation . Activation of RNASEL leads to degradation of cellular as well as viral RNA, resulting in the inhibition of protein synthesis, thus terminating viral replication . Can mediate the antiviral effect via the classical RNASEL-dependent pathway or an alternative antiviral pathway independent of RNASEL . In addition, it may also play a role in other cellular processes such as apoptosis, cell growth, differentiation and gene regulation . May act as a negative regulator of lactation, stopping lactation in virally infected mammary gland lobules, thereby preventing transmission of viruses to neonates . Non-infected lobules would not be affected, allowing efficient pup feeding during infection .
Reference sequence:
MGNWLTGNWSSDRSSGYSSGWSPGGSSGVPSGPVHKLEKSIQANLTPNENCLKQIAVSSVPSQKLEGYIQENLKPNRESLKQIDQAVDAIWDLLRSQIPVKEVAKGGSYGRETALRGCSDGTLVLFMDCFQQFQDQIKYQDAYLDVIELWLKIHEKKSVKHEHALVVQVSVPGQRILLQLLPVFNPLRSNENPSSCVYVDLKKSMDQVRASPGEFSDCFTTLQQRFFKKYPQRLKDLILLVKHWYEQCQEKWKTPPPQPLLYALELLTVYAWEQGCQAEDFDMAQGVRTVLRLIQRPTELCVYWTVNYNFEDETVRNILLHQLRSQRPVILDPTDPTNNVGKDDGFWELLTEEAMAWLYSPSLNTESPAPYWDVLPMPLFVTPSHLLNKFIKDFLQPNKLFLKQIKEAVDIICSFLKNVCFLNSDTKVLKTVKGGSTAKGTALKRGSDADIVVFLSSLESYDSLKTNRSQFVQEIQKQLEEFVQAQEWEVTFEISKWKAPRVLSFTLKSKTLNESVEFDVLPAYDALGQLRSDFTLRPEAYKDLIELCASQDIKEGEFSICFTELQRNFIQTRPTKLKSLLRLIKHWYKQYERKMKPKASLPPKYALELLTVYAWEQGSGTDDFDIAEGFRTVLDLVIKYRQLCIFWTVNYNFEEEYMRKFLLTQIQKKRPVILDPADPTGDVGGGDRWCWHLLAEEAKEWLSSPCFQVEQKGLVQPWKVPVMQTPGSCGGQIYPTVGGVTK
UniProt ID: F1CKI6
Variant: M -> V at position 190-190
Variant annotation: in strain: cv. Q903; susceptibility to pathogens
Protein function: Terpene synthase (TPS) involved in the biosynthesis of monoterpene natural products included in conifer oleoresin secretions and volatile emissions; these compounds contribute to biotic and abiotic stress defense against herbivores (e.g. insect attack by white pine weevil P.strobi) and pathogens . Catalyzes the conversion of (2E)-geranyl diphosphate (GPP) to (+)-car-3-ene .
Reference sequence:
MSVISIVPLASKPCLYKSFISSTHEPKALRRPISTVGLCRRAKSVTASMSMSSSTALSDDGVQRRIGNHHSNLWDDNFIQSLSSPYGASSYAERAERLIGEVKEIFNRISMANGELVSHVDDLLQHLSMVDNVERLGIDRHFQTEIKVSLDYVYSYWSEKGIGPGRDIVCADLNTTALGFRLLRLHGYTMFPDVFEQFKDQMGRIACSTNQTERQISSILNLFRASLIAFPWEKVMEEAEIFSTAYLKEALQTIPVSSLSREIQYVLDYRWHSDLPRLETRTYIDILRENATNETLDMKTEKLLELAKVEFNIFNSLQQNELKCVSRWWKESGSPDLTFIRHRQVEFYTLVSGIDMEPKRSTFRINFVKICHFVTILDDMYDTFGTIDELRLFTAAVKRWDKSATECLPEYMKGVYIDLYETVNELAREAYKSQGRDTLNYARQALEDYLGSYLKEAEWISTGYIPTFEEYLVNGKVSSAHRIATLQPILMLDVPFPPHVLQEIDFPSKFNDLAGSILRLRGDTRCYQNDRARGEEASCISCYMKDNPGSTEEDALNHINGMIEKQIKELNWELLKPDKNVPISSKKHAFNISRGLHHFYKYRDGYTVANSETRNLVIKTVLEPVPM
UniProt ID: F1CKI6
Variant: V -> E at position 473-473
Variant annotation: in strain: cv. Q903; susceptibility to pathogens
Protein function: Terpene synthase (TPS) involved in the biosynthesis of monoterpene natural products included in conifer oleoresin secretions and volatile emissions; these compounds contribute to biotic and abiotic stress defense against herbivores (e.g. insect attack by white pine weevil P.strobi) and pathogens . Catalyzes the conversion of (2E)-geranyl diphosphate (GPP) to (+)-car-3-ene .
Reference sequence:
MSVISIVPLASKPCLYKSFISSTHEPKALRRPISTVGLCRRAKSVTASMSMSSSTALSDDGVQRRIGNHHSNLWDDNFIQSLSSPYGASSYAERAERLIGEVKEIFNRISMANGELVSHVDDLLQHLSMVDNVERLGIDRHFQTEIKVSLDYVYSYWSEKGIGPGRDIVCADLNTTALGFRLLRLHGYTMFPDVFEQFKDQMGRIACSTNQTERQISSILNLFRASLIAFPWEKVMEEAEIFSTAYLKEALQTIPVSSLSREIQYVLDYRWHSDLPRLETRTYIDILRENATNETLDMKTEKLLELAKVEFNIFNSLQQNELKCVSRWWKESGSPDLTFIRHRQVEFYTLVSGIDMEPKRSTFRINFVKICHFVTILDDMYDTFGTIDELRLFTAAVKRWDKSATECLPEYMKGVYIDLYETVNELAREAYKSQGRDTLNYARQALEDYLGSYLKEAEWISTGYIPTFEEYLVNGKVSSAHRIATLQPILMLDVPFPPHVLQEIDFPSKFNDLAGSILRLRGDTRCYQNDRARGEEASCISCYMKDNPGSTEEDALNHINGMIEKQIKELNWELLKPDKNVPISSKKHAFNISRGLHHFYKYRDGYTVANSETRNLVIKTVLEPVPM
UniProt ID: F1CKI9
Variant: D -> H at position 285-285
Variant annotation: in strain: cv. Q903; susceptibility to pathogens
Protein function: Terpene synthase (TPS) involved in defensive oleoresin formation in conifers in response to insect attack or other injury.
Reference sequence:
MSVISIVPLASKSCLYKSLMSSTHELKALCRPIATLGMCRRGKSVMASMSTSLTTAVSDDGVQRRIGHHHSNLWDDNFIQSLSSPYGASSYAESAKKLIGEVKEIFNSLSMAAGGLMSPVDDLLQHLSMVDNVERLGIDRHFQTEIKVSLDYVYSYWSEKGIGSGRDIVCTDLNTTALGFRILRLHGYTVFPDVFEHFKDQMGRIACSANHTERQISSILNLFRASLIAFPGEKVMEEAEIFSATYLKEALQTIPVSSLSQEIQYVLQYRWHSNLPRLEARTYIDILQENTKNQMLDVNTKKVLELAKLEFNIFHSLQQNELKSVSRWWKESGFPDLNFIRHRHVEFYTLVSGIDMEPKHSTFRLSFVKMCHLITVLDDMYDTFGTIDELRLFTAAVKRWDPSTTQCLPEYMKGVYTVLYETVNEMAQEAQKSQGRDTLNYVRQALEAYIGAYHKEAEWISSGYLPTFDEYFENGKVSSGHRIATLQPIFMLDIPFPHHVLQEIDFPSNFNDFACSILRLRCDTRCYQADRARGEEASCISCYMKDHPGSTQEDALNHINNMIEETIKKLNWELMKPDNNVPISSKKPAFDISRGLHHFYNYRDGYTVSSNETKNLVIKTVLEPVPM