sujigwak/NVAR huggingface dataset:
UniProt ID: P56138
Variant: L -> F at position 105-105
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: D -> E at position 193-193
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: T -> A at position 220-220
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: S -> N at position 302-302
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: T -> A at position 353-353
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: A -> D at position 379-379
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: I -> V at position 415-415
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: E -> Q at position 457-457
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: YI -> CV at position 480-481
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: EV -> KL at position 487-488
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: D -> N at position 493-493
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56138
Variant: D -> N at position 505-505
Variant annotation: in strain: 60190
Protein function: NAD-binding protein involved in the addition of a carboxymethylaminomethyl (cmnm) group at the wobble position (U34) of certain tRNAs, forming tRNA-cmnm(5)s(2)U34.
Reference sequence:
MVKESDILVVGGGHAGIEASLIAAKMGARVHLITMLIDTIGLASCNPAIGGLGKGHLTKEVDVLGGAMGIITDHSGLQYRVLNASKGPAVRGTRAQIDMDTYRILARNLVLNTPNLSVSQEMTESLILENDEVVGVTTNINNTYRAKKVIITTGTFLKGVVHIGEHQNQNGRFGENASNSLALNLRELGFKVDRLKTGTCPRVAGNSIDFEGLEEHFGDTNPPYFSYKTKDFNPTQLSCFITYTNPITHQIIRDNFHRAPLFSGQIEGIGPRYCPSIEDKINRFSEKERHQLFLEPQTIHKSEYYINGLSTSLPLDVQEKVIHSIKGLENALITRYGYAIEYDFIQPTELTHTLETKKIKGLYLAGQINGTTGYEEAAAQGLMAGINAVLALKNQAPFILKRNEAYIGVLIDDLITKGTNEPYRMFTSRAEYRLLLREDNTLFRLGEHAYRLGLMEEDFYKELKKDKQEIQDNLKRLKEYILTPSKEVLKRLDELDENPINDKVDGVSLLARDSFNAEKMRSFFSFLAPLNERVLEQIKIECKYNIYIEKQHENIAKMDSMLKVSIPKGFVFKGIPGLSLEAVEKLEKFRPKSLFEASEISGITPANLDVLHLYIHLRKNS
UniProt ID: P56178
Variant: Q -> P at position 178-178
Variant annotation: in SHFM1D; dbSNP:rs387906737
Protein function: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding.
Reference sequence:
MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY
UniProt ID: P56178
Variant: S -> R at position 234-234
Variant annotation: in dbSNP:rs35273378
Protein function: Transcriptional factor involved in bone development. Acts as an immediate early BMP-responsive transcriptional activator essential for osteoblast differentiation. Stimulates ALPL promoter activity in a RUNX2-independent manner during osteoblast differentiation. Stimulates SP7 promoter activity during osteoblast differentiation. Promotes cell proliferation by up-regulating MYC promoter activity. Involved as a positive regulator of both chondrogenesis and chondrocyte hypertrophy in the endochondral skeleton. Binds to the homeodomain-response element of the ALPL and SP7 promoter. Binds to the MYC promoter. Requires the 5'-TAATTA-3' consensus sequence for DNA-binding.
Reference sequence:
MTGVFDRRVPSIRSGDFQAPFQTSAAMHHPSQESPTLPESSATDSDYYSPTGGAPHGYCSPTSASYGKALNPYQYQYHGVNGSAGSYPAKAYADYSYASSYHQYGGAYNRVPSATNQPEKEVTEPEVRMVNGKPKKVRKPRTIYSSFQLAALQRRFQKTQYLALPERAELAASLGLTQTQVKIWFQNKRSKIKKIMKNGEMPPEHSPSSSDPMACNSPQSPAVWEPQGSSRSLSHHPHAHPPTSNQSPASSYLENSASWYTSAASSINSHLPPPGSLQHPLALASGTLY
UniProt ID: P56180
Variant: R -> Q at position 144-144
Variant annotation: in a breast cancer sample; somatic mutation; dbSNP:rs144333919
Protein function: Could be involved in signal transduction.
Reference sequence:
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESPHTSEFKGAARVSPISESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFIIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEKMTSSDVVAGSD
UniProt ID: P56180
Variant: R -> Q at position 195-195
Variant annotation: in dbSNP:rs1810856
Protein function: Could be involved in signal transduction.
Reference sequence:
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESPHTSEFKGAARVSPISESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFIIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEKMTSSDVVAGSD
UniProt ID: P56180
Variant: K -> E at position 386-386
Variant annotation: in dbSNP:rs212146
Protein function: Could be involved in signal transduction.
Reference sequence:
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESPHTSEFKGAARVSPISESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFIIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEKMTSSDVVAGSD
UniProt ID: P56180
Variant: L -> P at position 470-470
Variant annotation: in dbSNP:rs150482
Protein function: Could be involved in signal transduction.
Reference sequence:
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESPHTSEFKGAARVSPISESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFIIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEKMTSSDVVAGSD
UniProt ID: P56180
Variant: Y -> S at position 482-482
Variant annotation: in dbSNP:rs9996
Protein function: Could be involved in signal transduction.
Reference sequence:
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESPHTSEFKGAARVSPISESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFIIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEKMTSSDVVAGSD
UniProt ID: P56180
Variant: G -> E at position 549-549
Variant annotation: in dbSNP:rs169758
Protein function: Could be involved in signal transduction.
Reference sequence:
MNESPDPTDLAGVIIELGPNDSPQTSEFKGATEEAPAKESPHTSEFKGAARVSPISESVLARLSKFEVEDAENVASYDSKIKKIVHSIVSSFAFGLFGVFLVLLDVTLILADLIFTDSKLYIPLEYRSISLAIALFFLMDVLLRVFVERRQQYFSDLFNILDTAIIVILLLVDVVYIFFDIKLLRNIPRWTHLLRLLRLIILLRIFHLFHQKRQLEKLIRRRVSENKRRYTRDGFDLDLTYVTERIIAMSFPSSGRQSFYRNPIKEVVRFLDKKHRNHYRVYNLCSERAYDPKHFHNRVVRIMIDDHNVPTLHQMVVFTKEVNEWMAQDLENIVAIHCKGGTDRTGTMVCAFLIASEICSTAKESLYYFGERRTDKTHSEKFQGVKTPSQKRYVAYFAQVKHLYNWNLPPRRILFIKHFIIYSIPRYVRDLKIQIEMEKKVVFSTISLGKCSVLDNITTDKILIDVFDGLPLYDDVKVQFFYSNLPTYYDNCSFYFWLHTSFIENNRLYLPKNELDNLHKQKARRIYPSDFAVEILFGEKMTSSDVVAGSD
UniProt ID: P56182
Variant: I -> V at position 194-194
Variant annotation: in dbSNP:rs34224504
Protein function: Plays a critical role in the generation of 28S rRNA.
Reference sequence:
MVSRVQLPPEIQLAQRLAGNEQVTRDRAVRKLRKYIVARTQRAAGGFTHDELLKVWKGLFYCMWMQDKPLLQEELGRTISQLVHAFQTTEAQHLFLQAFWQTMNREWTGIDRLRLDKFYMLMRMVLNESLKVLKMQGWEERQIEELLELLMTEILHPSSQAPNGVKSHFIEIFLEELTKVGAEELTADQNLKFIDPFCRIAARTKDSLVLNNITRGIFETIVEQAPLAIEDLLNELDTQDEEVASDSDESSEGGERGDALSQKRSEKPPAGSICRAEPEAGEEQAGDDRDSGGPVLQFDYEAVANRLFEMASRQSTPSQNRKRLYKVIRKLQDLAGGIFPEDEIPEKACRRLLEGRRQKKTKKQKRLLRLQQERGKGEKEPPSPGMERKRSRRRGVGADPEARAEAGEQPGTAERALLRDQPRGRGQRGARQRRRTPRPLTSARAKAANVQEPEKKKKRRE
UniProt ID: P56182
Variant: K -> R at position 326-326
Variant annotation: in dbSNP:rs915770
Protein function: Plays a critical role in the generation of 28S rRNA.
Reference sequence:
MVSRVQLPPEIQLAQRLAGNEQVTRDRAVRKLRKYIVARTQRAAGGFTHDELLKVWKGLFYCMWMQDKPLLQEELGRTISQLVHAFQTTEAQHLFLQAFWQTMNREWTGIDRLRLDKFYMLMRMVLNESLKVLKMQGWEERQIEELLELLMTEILHPSSQAPNGVKSHFIEIFLEELTKVGAEELTADQNLKFIDPFCRIAARTKDSLVLNNITRGIFETIVEQAPLAIEDLLNELDTQDEEVASDSDESSEGGERGDALSQKRSEKPPAGSICRAEPEAGEEQAGDDRDSGGPVLQFDYEAVANRLFEMASRQSTPSQNRKRLYKVIRKLQDLAGGIFPEDEIPEKACRRLLEGRRQKKTKKQKRLLRLQQERGKGEKEPPSPGMERKRSRRRGVGADPEARAEAGEQPGTAERALLRDQPRGRGQRGARQRRRTPRPLTSARAKAANVQEPEKKKKRRE
UniProt ID: P56192
Variant: V -> M at position 5-5
Variant annotation: found in a patient with spastic paraplegia; uncertain significance; dbSNP:rs587777227
Protein function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA . Plays a role in the synthesis of ribosomal RNA in the nucleolus .
Reference sequence:
MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLTRPKVPVLQLDSGNYLFSTSAICRYFFLLSGWEQDDLTNQWLEWEATELQPALSAALYYLVVQGKKGEDVLGSVRRALTHIDHSLSRQNCPFLAGETESLADIVLWGALYPLLQDPAYLPEELSALHSWFQTLSTQEPCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTNEPEEEELATLSEEEIAMAVTAWEKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVNNVPHLGNIIGCVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKRGFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLGRTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDNVPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQRAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSPKPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK
UniProt ID: P56192
Variant: P -> L at position 206-206
Variant annotation: in dbSNP:rs138776588
Protein function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA . Plays a role in the synthesis of ribosomal RNA in the nucleolus .
Reference sequence:
MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLTRPKVPVLQLDSGNYLFSTSAICRYFFLLSGWEQDDLTNQWLEWEATELQPALSAALYYLVVQGKKGEDVLGSVRRALTHIDHSLSRQNCPFLAGETESLADIVLWGALYPLLQDPAYLPEELSALHSWFQTLSTQEPCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTNEPEEEELATLSEEEIAMAVTAWEKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVNNVPHLGNIIGCVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKRGFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLGRTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDNVPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQRAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSPKPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK
UniProt ID: P56192
Variant: Y -> C at position 344-344
Variant annotation: in ILLD; when assayed in yeast, induces a slight growth retardation and reduction in methionine incorporation; may interfere with efficient substrate binding; dbSNP:rs766466297
Protein function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA . Plays a role in the synthesis of ribosomal RNA in the nucleolus .
Reference sequence:
MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLTRPKVPVLQLDSGNYLFSTSAICRYFFLLSGWEQDDLTNQWLEWEATELQPALSAALYYLVVQGKKGEDVLGSVRRALTHIDHSLSRQNCPFLAGETESLADIVLWGALYPLLQDPAYLPEELSALHSWFQTLSTQEPCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTNEPEEEELATLSEEEIAMAVTAWEKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVNNVPHLGNIIGCVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKRGFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLGRTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDNVPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQRAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSPKPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK
UniProt ID: P56192
Variant: F -> L at position 370-370
Variant annotation: in ILLD; dbSNP:rs140467171
Protein function: Catalyzes the specific attachment of an amino acid to its cognate tRNA in a 2 step reaction: the amino acid (AA) is first activated by ATP to form AA-AMP and then transferred to the acceptor end of the tRNA . Plays a role in the synthesis of ribosomal RNA in the nucleolus .
Reference sequence:
MRLFVSDGVPGCLPVLAAAGRARGRAEVLISTVGPEDCVVPFLTRPKVPVLQLDSGNYLFSTSAICRYFFLLSGWEQDDLTNQWLEWEATELQPALSAALYYLVVQGKKGEDVLGSVRRALTHIDHSLSRQNCPFLAGETESLADIVLWGALYPLLQDPAYLPEELSALHSWFQTLSTQEPCQRAAETVLKQQGVLALRPYLQKQPQPSPAEGRAVTNEPEEEELATLSEEEIAMAVTAWEKGLESLPPLRPQQNPVLPVAGERNVLITSALPYVNNVPHLGNIIGCVLSADVFARYSRLRQWNTLYLCGTDEYGTATETKALEEGLTPQEICDKYHIIHADIYRWFNISFDIFGRTTTPQQTKITQDIFQQLLKRGFVLQDTVEQLRCEHCARFLADRFVEGVCPFCGYEEARGDQCDKCGKLINAVELKKPQCKVCRSCPVVQSSQHLFLDLPKLEKRLEEWLGRTLPGSDWTPNAQFITRSWLRDGLKPRCITRDLKWGTPVPLEGFEDKVFYVWFDATIGYLSITANYTDQWERWWKNPEQVDLYQFMAKDNVPFHSLVFPCSALGAEDNYTLVSHLIATEYLNYEDGKFSKSRGVGVFGDMAQDTGIPADIWRFYLLYIRPEGQDSAFSWTDLLLKNNSELLNNLGNFINRAGMFVSKFFGGYVPEMVLTPDDQRLLAHVTLELQHYHQLLEKVRIRDALRSILTISRHGNQYIQVNEPWKRIKGSEADRQRAGTVTGLAVNIAALLSVMLQPYMPTVSATIQAQLQLPPPACSILLTNFLCTLPAGHQIGTVSPLFQKLENDQIESLRQRFGGGQAKTSPKPAVVETVTTAKPQQIQALMDEVTKQGNIVRELKAQKADKNEVAAEVAKLLDLKKQLAVAEGKPPEAPKGKKKK