sujigwak/NVAR huggingface dataset:
UniProt ID: Q01324
Variant: D -> N at position 199-199
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: S -> P at position 204-204
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: Q -> K at position 214-214
Variant annotation: in strain: CCUG 7852 and LCDC 80-111
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01324
Variant: I -> V at position 231-231
Variant annotation: in strain: CCUC 7757 and LCDC 845
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLESSASQIGHKESIKDTARVLGRMYDAIEYRGFGQETVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHGGKPLNQTSFAYVGDARYNMGNSLLILGAKLGMDVRIGAPEGLWPSEGIIAAANAVAEETGAKITLTANPQEAVKGVGFIHTDVWVSMGEPKEIWQERIDLLKDYRVTSELMAASGNPQVKFMHCLPAFHNRETKIGEWIYETFGLNGVEVTEEVFESPAGIVFDQA
UniProt ID: Q01325
Variant: A -> G at position 50-50
Variant annotation: in strain: HF116
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPQSLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKNVDFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01325
Variant: G -> A at position 57-57
Variant annotation: in strain: HF116
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPQSLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKNVDFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01325
Variant: V -> T at position 60-60
Variant annotation: in strain: HF116
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPQSLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKNVDFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01325
Variant: A -> T at position 65-65
Variant annotation: in strain: HF116
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPQSLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKNVDFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01325
Variant: L -> W at position 100-100
Variant annotation: in strain: HF116
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPQSLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKNVDFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01326
Variant: R -> G at position 32-32
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: Y -> F at position 48-48
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: G -> D at position 97-97
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: T -> V at position 103-103
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: G -> A at position 123-123
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: T -> S at position 137-137
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: VARAR -> IETVQ at position 145-149
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: E -> K at position 153-153
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: K -> R at position 158-158
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: E -> Q at position 166-166
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01326
Variant: VSG -> AAE at position 209-211
Variant annotation: in strain: Vedros M1801
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGVTYLEPSASQIRHKESIKDTARVLGRMYDGIEYRGFGQDVVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSGKPLNQTAFAYVGDARYNMANSLLVLGAKLGMDVRIGAPKTLWPSENIVARARAVAEETGGKILLTENAEEAVKGVDFIHTDVWVSMGEPKEAWQERIDLLKDYRVTPELMAVSGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESSASIVFDQA
UniProt ID: Q01327
Variant: A -> V at position 21-21
Variant annotation: in strain: INSMA3008
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01327
Variant: V -> I at position 61-61
Variant annotation: in strain: CCUG 24846
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01327
Variant: E -> Q at position 136-136
Variant annotation: in strain: CCUG 24846
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01327
Variant: A -> T at position 146-146
Variant annotation: in strain: CCUG 24846 and INSMA3008
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01327
Variant: A -> V at position 151-151
Variant annotation: in strain: CCUG 24846 and INSMA3008
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01327
Variant: GVG -> NVD at position 171-173
Variant annotation: in strain: CCUG 24846 and INSMA3008
Protein function: Reversibly catalyzes the transfer of the carbamoyl group from carbamoyl phosphate (CP) to the N(epsilon) atom of ornithine (ORN) to produce L-citrulline.
Reference sequence:
KTSTRTRCAFEVAARDQGAGATYLEPSASQIGHKESIKDTARVLGRMYDAIEYRGFGQEIVEELAKYAGVPVFNGLTNEFHPTQMLADALTMREHSSKPLNQTAFAYVGDARYNMGNSLLILGAKLGMDVRIGAPESLWPSEGIIAAAHAAAKETGAKITLTENAHEAVKGVGFIHTDVWVSMGEPKEVWQERIDLLKDYRVTPELMAASGNPQVKFMHCLPAFHNRETKVGEWIYETFGLNGVEVTEEVFESPASIVFDQA
UniProt ID: Q01344
Variant: I -> V at position 129-129
Variant annotation: in dbSNP:rs2290610
Protein function: Cell surface receptor that plays an important role in the survival, differentiation, and chemotaxis of eosinophils . Acts by forming an heterodimeric receptor with CSF2RB subunit and subsequently binding to interleukin-5 . In unstimulated conditions, interacts constitutively with JAK2. Heterodimeric receptor activation leads to JAK2 stimulation and subsequent activation of the JAK-STAT pathway .
Reference sequence:
MIIVAHVLLILLGATEILQADLLPDEKISLLPPVNFTIKVTGLAQVLLQWKPNPDQEQRNVNLEYQVKINAPKEDDYETRITESKCVTILHKGFSASVRTILQNDHSLLASSWASAELHAPPGSPGTSIVNLTCTTNTTEDNYSRLRSYQVSLHCTWLVGTDAPEDTQYFLYYRYGSWTEECQEYSKDTLGRNIACWFPRTFILSKGRDWLAVLVNGSSKHSAIRPFDQLFALHAIDQINPPLNVTAEIEGTRLSIQWEKPVSAFPIHCFDYEVKIHNTRNGYLQIEKLMTNAFISIIDDLSKYDVQVRAAVSSMCREAGLWSEWSQPIYVGNDEHKPLREWFVIVIMATICFILLILSLICKICHLWIKLFPPIPAPKSNIKDLFVTTNYEKAGSSETEIEVICYIEKPGVETLEDSVF
UniProt ID: Q01344
Variant: V -> A at position 262-262
Variant annotation: in dbSNP:rs17879690
Protein function: Cell surface receptor that plays an important role in the survival, differentiation, and chemotaxis of eosinophils . Acts by forming an heterodimeric receptor with CSF2RB subunit and subsequently binding to interleukin-5 . In unstimulated conditions, interacts constitutively with JAK2. Heterodimeric receptor activation leads to JAK2 stimulation and subsequent activation of the JAK-STAT pathway .
Reference sequence:
MIIVAHVLLILLGATEILQADLLPDEKISLLPPVNFTIKVTGLAQVLLQWKPNPDQEQRNVNLEYQVKINAPKEDDYETRITESKCVTILHKGFSASVRTILQNDHSLLASSWASAELHAPPGSPGTSIVNLTCTTNTTEDNYSRLRSYQVSLHCTWLVGTDAPEDTQYFLYYRYGSWTEECQEYSKDTLGRNIACWFPRTFILSKGRDWLAVLVNGSSKHSAIRPFDQLFALHAIDQINPPLNVTAEIEGTRLSIQWEKPVSAFPIHCFDYEVKIHNTRNGYLQIEKLMTNAFISIIDDLSKYDVQVRAAVSSMCREAGLWSEWSQPIYVGNDEHKPLREWFVIVIMATICFILLILSLICKICHLWIKLFPPIPAPKSNIKDLFVTTNYEKAGSSETEIEVICYIEKPGVETLEDSVF
UniProt ID: Q01362
Variant: T -> M at position 143-143
Variant annotation: in dbSNP:rs35033981
Protein function: High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy.
Reference sequence:
MDTESNRRANLALPQEPSSVPAFEVLEISPQEVSSGRLLKSASSPPLHTWLTVLKKEQEFLGVTQILTAMICLCFGTVVCSVLDISHIEGDIFSSFKAGYPFWGAIFFSISGMLSIISERRNATYLVRGSLGANTASSIAGGTGITILIINLKKSLAYIHIHSCQKFFETKCFMASFSTEIVVMMLFLTILGLGSAVSLTICGAGEELKGNKVPEDRVYEELNIYSATYSELEDPGEMSPPIDL
UniProt ID: Q01362
Variant: N -> K at position 211-211
Variant annotation: in dbSNP:rs535630
Protein function: High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy.
Reference sequence:
MDTESNRRANLALPQEPSSVPAFEVLEISPQEVSSGRLLKSASSPPLHTWLTVLKKEQEFLGVTQILTAMICLCFGTVVCSVLDISHIEGDIFSSFKAGYPFWGAIFFSISGMLSIISERRNATYLVRGSLGANTASSIAGGTGITILIINLKKSLAYIHIHSCQKFFETKCFMASFSTEIVVMMLFLTILGLGSAVSLTICGAGEELKGNKVPEDRVYEELNIYSATYSELEDPGEMSPPIDL
UniProt ID: Q01362
Variant: E -> G at position 237-237
Variant annotation: risk factor for atopic dermatitis and asthma; dbSNP:rs569108
Protein function: High affinity receptor that binds to the Fc region of immunoglobulins epsilon. Aggregation of FCER1 by multivalent antigens is required for the full mast cell response, including the release of preformed mediators (such as histamine) by degranulation and de novo production of lipid mediators and cytokines. Also mediates the secretion of important lymphokines. Binding of allergen to receptor-bound IgE leads to cell activation and the release of mediators responsible for the manifestations of allergy.
Reference sequence:
MDTESNRRANLALPQEPSSVPAFEVLEISPQEVSSGRLLKSASSPPLHTWLTVLKKEQEFLGVTQILTAMICLCFGTVVCSVLDISHIEGDIFSSFKAGYPFWGAIFFSISGMLSIISERRNATYLVRGSLGANTASSIAGGTGITILIINLKKSLAYIHIHSCQKFFETKCFMASFSTEIVVMMLFLTILGLGSAVSLTICGAGEELKGNKVPEDRVYEELNIYSATYSELEDPGEMSPPIDL
UniProt ID: Q01432
Variant: R -> W at position 185-185
Variant annotation: in dbSNP:rs11042836
Protein function: AMP deaminase plays a critical role in energy metabolism.
Reference sequence:
MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN
UniProt ID: Q01432
Variant: N -> K at position 310-310
Variant annotation: in AMPDDE
Protein function: AMP deaminase plays a critical role in energy metabolism.
Reference sequence:
MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN
UniProt ID: Q01432
Variant: V -> L at position 311-311
Variant annotation: in AMPDDE; dbSNP:rs117706710
Protein function: AMP deaminase plays a critical role in energy metabolism.
Reference sequence:
MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN
UniProt ID: Q01432
Variant: A -> V at position 320-320
Variant annotation: in AMPDDE; dbSNP:rs147542803
Protein function: AMP deaminase plays a critical role in energy metabolism.
Reference sequence:
MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN
UniProt ID: Q01432
Variant: M -> T at position 324-324
Variant annotation: in AMPDDE; dbSNP:rs750004231
Protein function: AMP deaminase plays a critical role in energy metabolism.
Reference sequence:
MPRQFPKLNISEVDEQVRLLAEKVFAKVLREEDSKDALSLFTVPEDCPIGQKEAKERELQKELAEQKSVETAKRKKSFKMIRSQSLSLQMPPQQDWKGPPAASPAMSPTTPVVTGATSLPTPAPYAMPEFQRVTISGDYCAGITLEDYEQAAKSLAKALMIREKYARLAYHRFPRITSQYLGHPRADTAPPEEGLPDFHPPPLPQEDPYCLDDAPPNLDYLVHMQGGILFVYDNKKMLEHQEPHSLPYPDLETYTVDMSHILALITDGPTKTYCHRRLNFLESKFSLHEMLNEMSEFKELKSNPHRDFYNVRKVDTHIHAAACMNQKHLLRFIKHTYQTEPDRTVAEKRGRKITLRQVFDGLHMDPYDLTVDSLDVHAGRQTFHRFDKFNSKYNPVGASELRDLYLKTENYLGGEYFARMVKEVARELEESKYQYSEPRLSIYGRSPEEWPNLAYWFIQHKVYSPNMRWIIQVPRIYDIFRSKKLLPNFGKMLENIFLPLFKATINPQDHRELHLFLKYVTGFDSVDDESKHSDHMFSDKSPNPDVWTSEQNPPYSYYLYYMYANIMVLNNLRRERGLSTFLFRPHCGEAGSITHLVSAFLTADNISHGLLLKKSPVLQYLYYLAQIPIAMSPLSNNSLFLEYSKNPLREFLHKGLHVSLSTDDPMQFHYTKEALMEEYAIAAQVWKLSTCDLCEIARNSVLQSGLSHQEKQKFLGQNYYKEGPEGNDIRKTNVAQIRMAFRYETLCNELSFLSDAMKSEEITALTN