sujigwak/NVAR huggingface dataset:
UniProt ID: P39573
Variant: D -> N at position 42-42
Variant annotation: in strain: MT-4
Protein function: With S4 and S5 plays an important role in translational accuracy. Located at the interface of the 30S and 50S subunits.
Reference sequence:
MVKSKSPKGIYAARKLRLKRLKFRRSQRKYKTKILKLKEKYDPLGGAPMARGIVLEKVGIESRQPNSAVRKCVRVQLVRNGRVVTAFVPGDGGVNFIDEHDEVIITGIGGTLGRSMGDLPGVRYKVIMVNGVSLDALYKGKKQKPVR
UniProt ID: P39573
Variant: MV -> NG at position 128-129
Variant annotation: in strain: MT-4
Protein function: With S4 and S5 plays an important role in translational accuracy. Located at the interface of the 30S and 50S subunits.
Reference sequence:
MVKSKSPKGIYAARKLRLKRLKFRRSQRKYKTKILKLKEKYDPLGGAPMARGIVLEKVGIESRQPNSAVRKCVRVQLVRNGRVVTAFVPGDGGVNFIDEHDEVIITGIGGTLGRSMGDLPGVRYKVIMVNGVSLDALYKGKKQKPVR
UniProt ID: P39717
Variant: Y -> H at position 215-215
Variant annotation: in strain: Sigma 1278B
Protein function: Beta subunit of a guanine nucleotide-binding protein (G protein). G proteins are involved as modulators or transducers in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Involved in the determination of the cAMP level according to nutritional conditions, most probably as a regulator of cAMP phosphodiesterase. Required for the control of pseudohyphal and haploid invasive growth.
Reference sequence:
MEISSSPWNDGGYSPYERNRVAVSPFSSALEGEERIETSRSLGDHCFEPLPYVTNYLSIFALFGKEIFGDKGNVSSRNEYLLKKYYSLKKPFVLRHNGHALKNPDMPLQRNDILQTNFMVDKFLNRTVRSVNFNNFKIISDMQSKSGRGTKSGTNQNQSADAIQNICLPSIPSALPYFQYYRKLLTVNTKEWDILKLHSLWVPKLRKDFKDFSLYGDKNSLKPIDSHYDEDNTMKKNLFFERSPSRQTLDGKGCASKGYDISSGNMIIPSLFSEDKLPALTYHCSVELNGNIYIFGGLMPCYSYEEDAPMLNDFFVDGIKNLPPPLLPQVINNPSMVNNPHLYVASIPSCRFSKPKMGGYIPPPLLCVQGSKLTDRHIFFYGGFEIRTETRGDENGKYHLKKRLYVNNTGYILDIMSFKFTKIDIIVQPSKYNAYPTMSSRFGHLQISIDNPNRRASVHSSSMNEIHKMGSASMKQGSSITSGRLEKAAVLSSLPHNTVHTVIIFGGYRQTGDDRYEAMNDLWKIEIPVIRRGKKGYCKFSETANAILLTPSEKDKSDWPEERAFSAFSVHGTSLMDRSSLDMRLLNNLKNHFVLKPSYISQDRVVSPKPVFPMMVHGTHQDLFNSGSAAQESPKAGASASSASAASFDPDMDDNLENYIVNPGRKSSSIPMTAIGRQRLILSQEKPVGKTVVLHGGSNGLNVLDDMWLMDLECETWTPIETFAKADSSEDGDEKLDSVNVGLVGHRMESIGRICVCIGGMVQEDVDQFYSENDDEPPRKRKVDTLPLGGNFLNTIDLSTQCWEEHKITLSKKEDDEDRQDSENEDTNSNIVVGVGGTSLQCDKSIILIGGLISRRSNVKEIYLHGTITKSIFPSVNPSA
UniProt ID: P39717
Variant: L -> P at position 221-221
Variant annotation: in strain: Sigma 1278B
Protein function: Beta subunit of a guanine nucleotide-binding protein (G protein). G proteins are involved as modulators or transducers in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Involved in the determination of the cAMP level according to nutritional conditions, most probably as a regulator of cAMP phosphodiesterase. Required for the control of pseudohyphal and haploid invasive growth.
Reference sequence:
MEISSSPWNDGGYSPYERNRVAVSPFSSALEGEERIETSRSLGDHCFEPLPYVTNYLSIFALFGKEIFGDKGNVSSRNEYLLKKYYSLKKPFVLRHNGHALKNPDMPLQRNDILQTNFMVDKFLNRTVRSVNFNNFKIISDMQSKSGRGTKSGTNQNQSADAIQNICLPSIPSALPYFQYYRKLLTVNTKEWDILKLHSLWVPKLRKDFKDFSLYGDKNSLKPIDSHYDEDNTMKKNLFFERSPSRQTLDGKGCASKGYDISSGNMIIPSLFSEDKLPALTYHCSVELNGNIYIFGGLMPCYSYEEDAPMLNDFFVDGIKNLPPPLLPQVINNPSMVNNPHLYVASIPSCRFSKPKMGGYIPPPLLCVQGSKLTDRHIFFYGGFEIRTETRGDENGKYHLKKRLYVNNTGYILDIMSFKFTKIDIIVQPSKYNAYPTMSSRFGHLQISIDNPNRRASVHSSSMNEIHKMGSASMKQGSSITSGRLEKAAVLSSLPHNTVHTVIIFGGYRQTGDDRYEAMNDLWKIEIPVIRRGKKGYCKFSETANAILLTPSEKDKSDWPEERAFSAFSVHGTSLMDRSSLDMRLLNNLKNHFVLKPSYISQDRVVSPKPVFPMMVHGTHQDLFNSGSAAQESPKAGASASSASAASFDPDMDDNLENYIVNPGRKSSSIPMTAIGRQRLILSQEKPVGKTVVLHGGSNGLNVLDDMWLMDLECETWTPIETFAKADSSEDGDEKLDSVNVGLVGHRMESIGRICVCIGGMVQEDVDQFYSENDDEPPRKRKVDTLPLGGNFLNTIDLSTQCWEEHKITLSKKEDDEDRQDSENEDTNSNIVVGVGGTSLQCDKSIILIGGLISRRSNVKEIYLHGTITKSIFPSVNPSA
UniProt ID: P39717
Variant: S -> R at position 552-552
Variant annotation: in strain: Sigma 1278B
Protein function: Beta subunit of a guanine nucleotide-binding protein (G protein). G proteins are involved as modulators or transducers in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Involved in the determination of the cAMP level according to nutritional conditions, most probably as a regulator of cAMP phosphodiesterase. Required for the control of pseudohyphal and haploid invasive growth.
Reference sequence:
MEISSSPWNDGGYSPYERNRVAVSPFSSALEGEERIETSRSLGDHCFEPLPYVTNYLSIFALFGKEIFGDKGNVSSRNEYLLKKYYSLKKPFVLRHNGHALKNPDMPLQRNDILQTNFMVDKFLNRTVRSVNFNNFKIISDMQSKSGRGTKSGTNQNQSADAIQNICLPSIPSALPYFQYYRKLLTVNTKEWDILKLHSLWVPKLRKDFKDFSLYGDKNSLKPIDSHYDEDNTMKKNLFFERSPSRQTLDGKGCASKGYDISSGNMIIPSLFSEDKLPALTYHCSVELNGNIYIFGGLMPCYSYEEDAPMLNDFFVDGIKNLPPPLLPQVINNPSMVNNPHLYVASIPSCRFSKPKMGGYIPPPLLCVQGSKLTDRHIFFYGGFEIRTETRGDENGKYHLKKRLYVNNTGYILDIMSFKFTKIDIIVQPSKYNAYPTMSSRFGHLQISIDNPNRRASVHSSSMNEIHKMGSASMKQGSSITSGRLEKAAVLSSLPHNTVHTVIIFGGYRQTGDDRYEAMNDLWKIEIPVIRRGKKGYCKFSETANAILLTPSEKDKSDWPEERAFSAFSVHGTSLMDRSSLDMRLLNNLKNHFVLKPSYISQDRVVSPKPVFPMMVHGTHQDLFNSGSAAQESPKAGASASSASAASFDPDMDDNLENYIVNPGRKSSSIPMTAIGRQRLILSQEKPVGKTVVLHGGSNGLNVLDDMWLMDLECETWTPIETFAKADSSEDGDEKLDSVNVGLVGHRMESIGRICVCIGGMVQEDVDQFYSENDDEPPRKRKVDTLPLGGNFLNTIDLSTQCWEEHKITLSKKEDDEDRQDSENEDTNSNIVVGVGGTSLQCDKSIILIGGLISRRSNVKEIYLHGTITKSIFPSVNPSA
UniProt ID: P39717
Variant: A -> T at position 674-674
Variant annotation: in strain: Sigma 1278B
Protein function: Beta subunit of a guanine nucleotide-binding protein (G protein). G proteins are involved as modulators or transducers in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Involved in the determination of the cAMP level according to nutritional conditions, most probably as a regulator of cAMP phosphodiesterase. Required for the control of pseudohyphal and haploid invasive growth.
Reference sequence:
MEISSSPWNDGGYSPYERNRVAVSPFSSALEGEERIETSRSLGDHCFEPLPYVTNYLSIFALFGKEIFGDKGNVSSRNEYLLKKYYSLKKPFVLRHNGHALKNPDMPLQRNDILQTNFMVDKFLNRTVRSVNFNNFKIISDMQSKSGRGTKSGTNQNQSADAIQNICLPSIPSALPYFQYYRKLLTVNTKEWDILKLHSLWVPKLRKDFKDFSLYGDKNSLKPIDSHYDEDNTMKKNLFFERSPSRQTLDGKGCASKGYDISSGNMIIPSLFSEDKLPALTYHCSVELNGNIYIFGGLMPCYSYEEDAPMLNDFFVDGIKNLPPPLLPQVINNPSMVNNPHLYVASIPSCRFSKPKMGGYIPPPLLCVQGSKLTDRHIFFYGGFEIRTETRGDENGKYHLKKRLYVNNTGYILDIMSFKFTKIDIIVQPSKYNAYPTMSSRFGHLQISIDNPNRRASVHSSSMNEIHKMGSASMKQGSSITSGRLEKAAVLSSLPHNTVHTVIIFGGYRQTGDDRYEAMNDLWKIEIPVIRRGKKGYCKFSETANAILLTPSEKDKSDWPEERAFSAFSVHGTSLMDRSSLDMRLLNNLKNHFVLKPSYISQDRVVSPKPVFPMMVHGTHQDLFNSGSAAQESPKAGASASSASAASFDPDMDDNLENYIVNPGRKSSSIPMTAIGRQRLILSQEKPVGKTVVLHGGSNGLNVLDDMWLMDLECETWTPIETFAKADSSEDGDEKLDSVNVGLVGHRMESIGRICVCIGGMVQEDVDQFYSENDDEPPRKRKVDTLPLGGNFLNTIDLSTQCWEEHKITLSKKEDDEDRQDSENEDTNSNIVVGVGGTSLQCDKSIILIGGLISRRSNVKEIYLHGTITKSIFPSVNPSA
UniProt ID: P39717
Variant: P -> S at position 777-777
Variant annotation: in strain: Sigma 1278B
Protein function: Beta subunit of a guanine nucleotide-binding protein (G protein). G proteins are involved as modulators or transducers in various transmembrane signaling systems. The beta and gamma chains are required for the GTPase activity, for replacement of GDP by GTP, and for G protein-effector interaction. Involved in the determination of the cAMP level according to nutritional conditions, most probably as a regulator of cAMP phosphodiesterase. Required for the control of pseudohyphal and haploid invasive growth.
Reference sequence:
MEISSSPWNDGGYSPYERNRVAVSPFSSALEGEERIETSRSLGDHCFEPLPYVTNYLSIFALFGKEIFGDKGNVSSRNEYLLKKYYSLKKPFVLRHNGHALKNPDMPLQRNDILQTNFMVDKFLNRTVRSVNFNNFKIISDMQSKSGRGTKSGTNQNQSADAIQNICLPSIPSALPYFQYYRKLLTVNTKEWDILKLHSLWVPKLRKDFKDFSLYGDKNSLKPIDSHYDEDNTMKKNLFFERSPSRQTLDGKGCASKGYDISSGNMIIPSLFSEDKLPALTYHCSVELNGNIYIFGGLMPCYSYEEDAPMLNDFFVDGIKNLPPPLLPQVINNPSMVNNPHLYVASIPSCRFSKPKMGGYIPPPLLCVQGSKLTDRHIFFYGGFEIRTETRGDENGKYHLKKRLYVNNTGYILDIMSFKFTKIDIIVQPSKYNAYPTMSSRFGHLQISIDNPNRRASVHSSSMNEIHKMGSASMKQGSSITSGRLEKAAVLSSLPHNTVHTVIIFGGYRQTGDDRYEAMNDLWKIEIPVIRRGKKGYCKFSETANAILLTPSEKDKSDWPEERAFSAFSVHGTSLMDRSSLDMRLLNNLKNHFVLKPSYISQDRVVSPKPVFPMMVHGTHQDLFNSGSAAQESPKAGASASSASAASFDPDMDDNLENYIVNPGRKSSSIPMTAIGRQRLILSQEKPVGKTVVLHGGSNGLNVLDDMWLMDLECETWTPIETFAKADSSEDGDEKLDSVNVGLVGHRMESIGRICVCIGGMVQEDVDQFYSENDDEPPRKRKVDTLPLGGNFLNTIDLSTQCWEEHKITLSKKEDDEDRQDSENEDTNSNIVVGVGGTSLQCDKSIILIGGLISRRSNVKEIYLHGTITKSIFPSVNPSA
UniProt ID: P39775
Variant: A -> V at position 30-30
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: A -> V at position 43-43
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: F -> Y at position 50-50
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: L -> I at position 89-89
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: I -> V at position 108-108
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: I -> T at position 189-189
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: V -> I at position 196-196
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: L -> I at position 201-201
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39775
Variant: L -> I at position 205-205
Variant annotation: in strain: ATCC 6633 / PCI 219
Protein function: Involved in a high affinity multicomponent binding-protein-dependent transport system for choline; probably responsible for the translocation of the substrate across the membrane.
Reference sequence:
MNVLEQLMTYYAQNGSYVMDEFGRHFLMSAYGVLFAAVVGVPAGILIAHFRRLSAWVFAVTNVIQTIPALAMLAVLMLVMGLGANTVILSLFLYSLLPIIRNTYTGIISIEHAYLESGKAMGMTKFQVLRMVELPLALSVIMAGLRTALVIAIGITAIGTFVGAGGLGDMIVRGSNATNGTAIILAGAIPTAVMAVGADLLMAWLERALSPVKKKRTGAKHVQSAA
UniProt ID: P39897
Variant: H -> Y at position 105-105
Variant annotation: in penicillin-resistant isolates
Protein function: Controls the permeability of the cell envelope to hydrophobic compounds such as antibiotics and detergents . Represses transcription of the mtrCDE-encoded efflux pump by binding within the mtrCDE promoter . Also negatively regulates the expression of farR, by binding to its promoter region, leading indirectly to the positive regulation of expression of the farAB-encoded efflux pump .
Reference sequence:
MRKTKTEALKTKEHLMLAALETFYRKGIARTSLNEIAQAAGVTRGALYWHFKNKEDLFDALFQRICDDIENCIAQDAADAEGGSWTVFRHTLLHFFERLQSNDIHYKFHNILFLKCEHTEQNAAVIAIARKHQAIWREKITAVLTEAVENQDLADDLDKETAVIFIKSTLDGLIWRWFSSGESFDLGKTAPRIIGIMMDNLENHPCLRRK
UniProt ID: P39900
Variant: N -> S at position 357-357
Variant annotation: in dbSNP:rs652438
Protein function: May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.
Reference sequence:
MKFLLILLLQATASGALPLNSSTSLEKNNVLFGERYLEKFYGLEINKLPVTKMKYSGNLMKEKIQEMQHFLGLKVTGQLDTSTLEMMHAPRCGVPDVHHFREMPGGPVWRKHYITYRINNYTPDMNREDVDYAIRKAFQVWSNVTPLKFSKINTGMADILVVFARGAHGDFHAFDGKGGILAHAFGPGSGIGGDAHFDEDEFWTTHSGGTNLFLTAVHEIGHSLGLGHSSDPKAVMFPTYKYVDINTFRLSADDIRGIQSLYGDPKENQRLPNPDNSEPALCDPNLSFDAVTTVGNKIFFFKDRFFWLKVSERPKTSVNLISSLWPTLPSGIEAAYEIEARNQVFLFKDDKYWLISNLRPEPNYPKSIHSFGFPNFVKKIDAAVFNPRFYRTYFFVDNQYWRYDERRQMMDPGYPKLITKNFQGIGPKIDAVFYSKNKYYYFFQGSNQFEYDFLLQRITKTLKSNSWFGC
UniProt ID: P39900
Variant: G -> R at position 469-469
Variant annotation: in dbSNP:rs28381701
Protein function: May be involved in tissue injury and remodeling. Has significant elastolytic activity. Can accept large and small amino acids at the P1' site, but has a preference for leucine. Aromatic or hydrophobic residues are preferred at the P1 site, with small hydrophobic residues (preferably alanine) occupying P3.
Reference sequence:
MKFLLILLLQATASGALPLNSSTSLEKNNVLFGERYLEKFYGLEINKLPVTKMKYSGNLMKEKIQEMQHFLGLKVTGQLDTSTLEMMHAPRCGVPDVHHFREMPGGPVWRKHYITYRINNYTPDMNREDVDYAIRKAFQVWSNVTPLKFSKINTGMADILVVFARGAHGDFHAFDGKGGILAHAFGPGSGIGGDAHFDEDEFWTTHSGGTNLFLTAVHEIGHSLGLGHSSDPKAVMFPTYKYVDINTFRLSADDIRGIQSLYGDPKENQRLPNPDNSEPALCDPNLSFDAVTTVGNKIFFFKDRFFWLKVSERPKTSVNLISSLWPTLPSGIEAAYEIEARNQVFLFKDDKYWLISNLRPEPNYPKSIHSFGFPNFVKKIDAAVFNPRFYRTYFFVDNQYWRYDERRQMMDPGYPKLITKNFQGIGPKIDAVFYSKNKYYYFFQGSNQFEYDFLLQRITKTLKSNSWFGC
UniProt ID: P39905
Variant: P -> S at position 21-21
Variant annotation: in HSCR3; uncertain significance; dbSNP:rs777451569
Protein function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
Reference sequence:
MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI
UniProt ID: P39905
Variant: R -> W at position 93-93
Variant annotation: may be a risk factor for Hirschsprung disease; dbSNP:rs36119840
Protein function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
Reference sequence:
MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI
UniProt ID: P39905
Variant: D -> N at position 150-150
Variant annotation: risk factor for Hirschsprung disease; dbSNP:rs76466003
Protein function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
Reference sequence:
MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI
UniProt ID: P39905
Variant: T -> S at position 154-154
Variant annotation: in HSCR3; sporadic form; dbSNP:rs104893891
Protein function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
Reference sequence:
MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI
UniProt ID: P39905
Variant: I -> M at position 211-211
Variant annotation: in HSCR3; dbSNP:rs121918536
Protein function: Neurotrophic factor that enhances survival and morphological differentiation of dopaminergic neurons and increases their high-affinity dopamine uptake.
Reference sequence:
MKLWDVVAVCLVLLHTASAFPLPAGKRPPEAPAEDRSLGRRRAPFALSSDSNMPEDYPDQFDDVMDFIQATIKRLKRSPDKQMAVLPRRERNRQAAAANPENSRGKGRRGQRGKNRGCVLTAIHLNVTDLGLGYETKEELIFRYCSGSCDAAETTYDKILKNLSRNRRLVSDKVGQACCRPIAFDDDLSFLDDNLVYHILRKHSAKRCGCI
UniProt ID: P40020
Variant: P -> R at position 614-614
Variant annotation: in strain: ATCC 200060 / W303
Protein function: Involved in 3' mRNA processing. Positively regulates poly(A) synthesis.
Reference sequence:
MSLPVTPVKSKVCSTLSIQHEMDHDQCRDVLCPRENLLAINRTNNIESVAIPRQRSSKNKKPHEHTQSQVRFSIPDPNEISQDSPLKIVFPKSGNETERRMSTSSLLMNSHGHLVDMHSKILVDVPKEVWKFHHNRRKKCESRHRKTRSDVRSNTSSSGKEPNHSRSKSLQSIIVDTMNTYRATEVETSINENTSNISQVSPLNLSFDRPPPLTPEKNLYLTPESPLNRYHLPVPLEISLPPYLSPQNKDKKRSSLVYDGDGYSQFQEGNTSSSTESSLEQPSSSYSDEDDSIPYAHHDVSFELNNADADKLLGIDENANVNLKIQRRNLKNPQHIKSKTDRECEEKNTEKNVSLKILSTPNKLIDIPDLEHMKSPPSTGLNGTLKFFQQFEPSEEPTSPTRQVNPESLDKLDMSFKFPSSTTNNNVDKVHENRNSGDTNNEDFLKVDTSPVNQSFESRRQMLIDLQKSPTNNNPRIHKHRRSRSVHNIDDISLNFEATSTPPAPTSAPSIPVEHSNPCTSIEIPKRSPLRFTSSPKTSDIPPEAQSPKNGSFLQEISVPSIQIIPDESISHTREPSPSLIECPEDENEAFSTEVADHSIAIISETKSVPSIEPFKPLSSFNSFGQEIQNKEPTPLNQTPTDLIGKQRNCVNPHSIPFSVLSSNSQSSQSGSSKSSYNSEFSSNTAITDTTSQPSVTINRSTLEHNFIEEKRSIKNLGHGPPSQKNNYSFPRNKNTPSNRHDLDFNTIYEKRDGKMVEVILLDEDEDVGLKNNDISRTRVCHAQKAKNEQQKKRLSHCNEILGMCDKTADDAKRIIYQLVNEKHKFSEKGQQTKPKKSRVLPPLPFPLYDEKGNSLIPNKYQSSIHNDIPSHRKLK
UniProt ID: P40068
Variant: Q -> QQQ at position 54-54
Variant annotation: in strain: Diastaticus / ATCC 60715 /YIY2-11A
Protein function: Required for diploid filamentous growth, haploid invasive growth and flocculation. Putative transcriptional activator of FLO1.
Reference sequence:
MSYKVNSSYPDSIPPTEQPYMASQYKQDLQSNIAMATNSEQQRQQQQQQQQQQQQWINQPTAENSDLKEKMNCKNTLNEYIFDFLTKSSLKNTAAAFAQDAHLDRDKGQNPVDGPKSKENNGNQNTFSKVVDTPQGFLYEWWQIFWDIFNTSSSRGGSEFAQQYYQLVLQEQRQEQIYRSLAVHAARLQHDAERRGEYSNEDIDPMHLAAMMLGNPMAPAVQMRNVNMNPIPIPMVGNPIVNNFSIPPYNNANPTTGATAVAPTAPPSGDFTNVGPTQNRSQNVTGWPVYNYPMQPTTENPVGNPCNNNTTNNTTNNKSPVNQPKSLKTMHSTDKPNNVPTSKSTRSRSATSKAKGKVKAGLVAKRRRKNNTATVSAGSTNACSPNITTPGSTTSEPAMVGSRVNKTPRSDIATNFRNQAIIFGEEDIYSNSKSSPSLDGASPSALASKQPTKVRKNTKKASTSAFPVESTNKLGGNSVVTGKKRSPPNTRVSRRKSTPSVILNADATKDENNMLRTFSNTIAPNIHSAPPTKTANSLPFPGINLGSFNKPAVSSPLSSVTESCFDPESGKIAGKNGPKRAVNSKVSASSPLSIATPRSGDAQKQRSSKVPGNVVIKPPHGFSTTNLNITLKNSKIITSQNNTVSQELPNGGNILEAQVGNDSRSSKGNRNTLSTPEEKKPSSNNQGYDFDALKNSSSLLFPNQAYASNNRTPNENSNVADETSASTNSGDNDNTLIQPSSNVGTTLGPQQTSTNENQNVHSQNLKFGNIGMVEDQGPDYDLNLLDTNENDFNFINWEG
UniProt ID: P40068
Variant: V -> I at position 112-112
Variant annotation: in strain: Diastaticus / ATCC 60715 / YIY2-11A
Protein function: Required for diploid filamentous growth, haploid invasive growth and flocculation. Putative transcriptional activator of FLO1.
Reference sequence:
MSYKVNSSYPDSIPPTEQPYMASQYKQDLQSNIAMATNSEQQRQQQQQQQQQQQQWINQPTAENSDLKEKMNCKNTLNEYIFDFLTKSSLKNTAAAFAQDAHLDRDKGQNPVDGPKSKENNGNQNTFSKVVDTPQGFLYEWWQIFWDIFNTSSSRGGSEFAQQYYQLVLQEQRQEQIYRSLAVHAARLQHDAERRGEYSNEDIDPMHLAAMMLGNPMAPAVQMRNVNMNPIPIPMVGNPIVNNFSIPPYNNANPTTGATAVAPTAPPSGDFTNVGPTQNRSQNVTGWPVYNYPMQPTTENPVGNPCNNNTTNNTTNNKSPVNQPKSLKTMHSTDKPNNVPTSKSTRSRSATSKAKGKVKAGLVAKRRRKNNTATVSAGSTNACSPNITTPGSTTSEPAMVGSRVNKTPRSDIATNFRNQAIIFGEEDIYSNSKSSPSLDGASPSALASKQPTKVRKNTKKASTSAFPVESTNKLGGNSVVTGKKRSPPNTRVSRRKSTPSVILNADATKDENNMLRTFSNTIAPNIHSAPPTKTANSLPFPGINLGSFNKPAVSSPLSSVTESCFDPESGKIAGKNGPKRAVNSKVSASSPLSIATPRSGDAQKQRSSKVPGNVVIKPPHGFSTTNLNITLKNSKIITSQNNTVSQELPNGGNILEAQVGNDSRSSKGNRNTLSTPEEKKPSSNNQGYDFDALKNSSSLLFPNQAYASNNRTPNENSNVADETSASTNSGDNDNTLIQPSSNVGTTLGPQQTSTNENQNVHSQNLKFGNIGMVEDQGPDYDLNLLDTNENDFNFINWEG
UniProt ID: P40068
Variant: P -> S at position 115-115
Variant annotation: in strain: Diastaticus / ATCC 60715 / YIY2-11A
Protein function: Required for diploid filamentous growth, haploid invasive growth and flocculation. Putative transcriptional activator of FLO1.
Reference sequence:
MSYKVNSSYPDSIPPTEQPYMASQYKQDLQSNIAMATNSEQQRQQQQQQQQQQQQWINQPTAENSDLKEKMNCKNTLNEYIFDFLTKSSLKNTAAAFAQDAHLDRDKGQNPVDGPKSKENNGNQNTFSKVVDTPQGFLYEWWQIFWDIFNTSSSRGGSEFAQQYYQLVLQEQRQEQIYRSLAVHAARLQHDAERRGEYSNEDIDPMHLAAMMLGNPMAPAVQMRNVNMNPIPIPMVGNPIVNNFSIPPYNNANPTTGATAVAPTAPPSGDFTNVGPTQNRSQNVTGWPVYNYPMQPTTENPVGNPCNNNTTNNTTNNKSPVNQPKSLKTMHSTDKPNNVPTSKSTRSRSATSKAKGKVKAGLVAKRRRKNNTATVSAGSTNACSPNITTPGSTTSEPAMVGSRVNKTPRSDIATNFRNQAIIFGEEDIYSNSKSSPSLDGASPSALASKQPTKVRKNTKKASTSAFPVESTNKLGGNSVVTGKKRSPPNTRVSRRKSTPSVILNADATKDENNMLRTFSNTIAPNIHSAPPTKTANSLPFPGINLGSFNKPAVSSPLSSVTESCFDPESGKIAGKNGPKRAVNSKVSASSPLSIATPRSGDAQKQRSSKVPGNVVIKPPHGFSTTNLNITLKNSKIITSQNNTVSQELPNGGNILEAQVGNDSRSSKGNRNTLSTPEEKKPSSNNQGYDFDALKNSSSLLFPNQAYASNNRTPNENSNVADETSASTNSGDNDNTLIQPSSNVGTTLGPQQTSTNENQNVHSQNLKFGNIGMVEDQGPDYDLNLLDTNENDFNFINWEG
UniProt ID: P40068
Variant: C -> G at position 383-383
Variant annotation: in strain: Diastaticus / ATCC 60715 / YIY2-11A
Protein function: Required for diploid filamentous growth, haploid invasive growth and flocculation. Putative transcriptional activator of FLO1.
Reference sequence:
MSYKVNSSYPDSIPPTEQPYMASQYKQDLQSNIAMATNSEQQRQQQQQQQQQQQQWINQPTAENSDLKEKMNCKNTLNEYIFDFLTKSSLKNTAAAFAQDAHLDRDKGQNPVDGPKSKENNGNQNTFSKVVDTPQGFLYEWWQIFWDIFNTSSSRGGSEFAQQYYQLVLQEQRQEQIYRSLAVHAARLQHDAERRGEYSNEDIDPMHLAAMMLGNPMAPAVQMRNVNMNPIPIPMVGNPIVNNFSIPPYNNANPTTGATAVAPTAPPSGDFTNVGPTQNRSQNVTGWPVYNYPMQPTTENPVGNPCNNNTTNNTTNNKSPVNQPKSLKTMHSTDKPNNVPTSKSTRSRSATSKAKGKVKAGLVAKRRRKNNTATVSAGSTNACSPNITTPGSTTSEPAMVGSRVNKTPRSDIATNFRNQAIIFGEEDIYSNSKSSPSLDGASPSALASKQPTKVRKNTKKASTSAFPVESTNKLGGNSVVTGKKRSPPNTRVSRRKSTPSVILNADATKDENNMLRTFSNTIAPNIHSAPPTKTANSLPFPGINLGSFNKPAVSSPLSSVTESCFDPESGKIAGKNGPKRAVNSKVSASSPLSIATPRSGDAQKQRSSKVPGNVVIKPPHGFSTTNLNITLKNSKIITSQNNTVSQELPNGGNILEAQVGNDSRSSKGNRNTLSTPEEKKPSSNNQGYDFDALKNSSSLLFPNQAYASNNRTPNENSNVADETSASTNSGDNDNTLIQPSSNVGTTLGPQQTSTNENQNVHSQNLKFGNIGMVEDQGPDYDLNLLDTNENDFNFINWEG