sujigwak/NVAR huggingface dataset:
UniProt ID: Q05902
Variant: G -> D at position 494-494
Variant annotation: in strain: YPH499; lack of gamma-glutamyl transferase activity
Protein function: Catalyzes the transfer of the gamma-glutamyl moiety of glutathione (GSH) and other gamma-glutamyl compounds to amino acids and peptides. Major GSH-degrading enzyme, catalyzing the hydrolytic release of L-glutamate from GSH. Plays a role in the turnover of the vacuolar GSH, serving as an alternative nitrogen source during nitrogen starvation.
Reference sequence:
MLLCNRKVPKTLNTCFILHIFTLLTLGVLVSGMPSKMVSFASQETLQRINNLLRGSANRDVDIIAEYLKKDDDDDGGDKDHHNIDIDPLPRRPSLTPDRQLLKVGLHGAISSDLEVCSNLTINEVLLKFPGSNAADAAVTQALCKGMVNFFNSGIGGGGYVVFSGKDDEDHLSIDFREKAPMDSHKFMFENCSLCSKIGGLAVGVPGELMGLYRLFKERGSGQVDWRDLIEPVAKLGSVGWQIGEALGATLELYEDVFLTLKEDWSFVLNSTHDGVLKEGDWIKRPALSNMLMELAKNGSVAPFYDPDHWIAKSMIDTVAKYNGIMNLQDVSSYDVHVTKPLSMKIRKGANFIPDNDMTVLTSSGSSSGAALLAALRIMDNFQNQEGGDYEKETTYHLLESMKWMASARSRLGDFEGEALPKHIEEVLDPEWALKAVKSIKRNSQDGNFKTLENWTLYDPAYDINNPHGTAHFSIVDSHGNAVSLTTTINLLFGSLVHDPKTGVIFNNEMDDFAQFNKSNSFELAPSIYNFPEPGKRPLSSTAPTIVLSELGIPDLVVGASGGSRITTSVLQTIVRTYWYNMPILETIAYPRIHHQLLPDRIELESFPMIGKAVLSTLKEMGYTMKEVFPKSVVNAIRNVRGEWHAVSDYWRKRGISSVY
UniProt ID: Q05932
Variant: F -> L at position 13-13
Variant annotation: in dbSNP:rs1034635821 and dbSNP:rs759336102
Protein function: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
Reference sequence:
MSRARSHLRAALFLAAASARGITTQVAARRGLSAWPVPQEPSMEYQDAVRMLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKYFWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPEGPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQVLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEHQQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVGGVLKLLEPALSQ
UniProt ID: Q05932
Variant: I -> V at position 22-22
Variant annotation: in dbSNP:rs10760502
Protein function: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
Reference sequence:
MSRARSHLRAALFLAAASARGITTQVAARRGLSAWPVPQEPSMEYQDAVRMLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKYFWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPEGPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQVLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEHQQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVGGVLKLLEPALSQ
UniProt ID: Q05932
Variant: V -> D at position 437-437
Variant annotation: in dbSNP:rs12686275
Protein function: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
Reference sequence:
MSRARSHLRAALFLAAASARGITTQVAARRGLSAWPVPQEPSMEYQDAVRMLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKYFWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPEGPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQVLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEHQQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVGGVLKLLEPALSQ
UniProt ID: Q05932
Variant: R -> C at position 466-466
Variant annotation: expression is reduced by 1.86-fold; Vmax with methotrexate as substrate is significantly reduced resulting in significantly decreased intrinsic clearance of methotrexate; Km of glutamic acid is increased 3.5-fold and apparent Vmax of it is reduced 3.4-fold; reaction velocity at 100 nmol/L of pemetrexed is significantly reduced and folic acid dose-response curve is shifted to the right which corresponds to 4.32-fold increase in the EC(50) for folic acid; IC(50) of methotrexate is 1.84-fold higher and accumulation of a lower ratio of long-chain methotrexate polyglutamates to short-chain polyglutamates is detected; all results are for isoform 2 variant in comparison to the wild-type of it; dbSNP:rs35789560
Protein function: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
Reference sequence:
MSRARSHLRAALFLAAASARGITTQVAARRGLSAWPVPQEPSMEYQDAVRMLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKYFWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPEGPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQVLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEHQQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVGGVLKLLEPALSQ
UniProt ID: Q05932
Variant: A -> V at position 489-489
Variant annotation: in dbSNP:rs17855900
Protein function: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
Reference sequence:
MSRARSHLRAALFLAAASARGITTQVAARRGLSAWPVPQEPSMEYQDAVRMLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKYFWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPEGPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQVLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEHQQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVGGVLKLLEPALSQ
UniProt ID: Q05932
Variant: S -> F at position 499-499
Variant annotation: expression reduced by 2.11-fold; Vmax with methotrexate as substrate is significantly reduced resulting in significantly decreased intrinsic clearance of methotrexate; apparent Vmax for glutamic acid is reduced 5-fold; reaction velocity at 100 nmol/L of pemetrexed is significantly reduced and folic acid dose-response curve is shifted to the right which corresponds to 4.28-fold increase in the EC(50) for folic acid; IC(50) of methotrexate is 1.64-fold higher and accumulation of a lower ratio of long-chain methotrexate polyglutamates to short-chain polyglutamates is detected; all results are for isoform 2 variant in comparison to the wild-type of it; dbSNP:rs200314440
Protein function: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
Reference sequence:
MSRARSHLRAALFLAAASARGITTQVAARRGLSAWPVPQEPSMEYQDAVRMLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKYFWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPEGPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQVLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEHQQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVGGVLKLLEPALSQ
UniProt ID: Q05932
Variant: S -> T at position 528-528
Variant annotation: in dbSNP:rs34354111
Protein function: Catalyzes conversion of folates to polyglutamate derivatives allowing concentration of folate compounds in the cell and the intracellular retention of these cofactors, which are important substrates for most of the folate-dependent enzymes that are involved in one-carbon transfer reactions involved in purine, pyrimidine and amino acid synthesis. Unsubstituted reduced folates are the preferred substrates. Metabolizes methotrexate (MTX) to polyglutamates.
Reference sequence:
MSRARSHLRAALFLAAASARGITTQVAARRGLSAWPVPQEPSMEYQDAVRMLNTLQTNAGYLEQVKRQRGDPQTQLEAMELYLARSGLQVEDLDRLNIIHVTGTKGKGSTCAFTECILRSYGLKTGFFSSPHLVQVRERIRINGQPISPELFTKYFWRLYHRLEETKDGSCVSMPPYFRFLTLMAFHVFLQEKVDLAVVEVGIGGAYDCTNIIRKPVVCGVSSLGIDHTSLLGDTVEKIAWQKGGIFKQGVPAFTVLQPEGPLAVLRDRAQQISCPLYLCPMLEALEEGGPPLTLGLEGEHQRSNAALALQLAHCWLQRQDRHGAGEPKASRPGLLWQLPLAPVFQPTSHMRLGLRNTEWPGRTQVLRRGPLTWYLDGAHTASSAQACVRWFRQALQGRERPSGGPEVRVLLFNATGDRDPAALLKLLQPCQFDYAVFCPNLTEVSSTGNADQQNFTVTLDQVLLRCLEHQQHWNHLDEEQASPDLWSAPSPEPGGSASLLLAPHPPHTCSASSLVFSCISHALQWISQGRDPIFQPPSPPKGLLTHPVAHSGASILREAAAIHVLVTGSLHLVGGVLKLLEPALSQ
UniProt ID: Q05938
Variant: N -> I at position 134-134
Variant annotation: in strain: DOH272 and AQ4901
Protein function: In the presence of ToxS, promotes the expression of the thermostable direct hemolysin 2. May be a global regulator.
Reference sequence:
MTNIGTKFLLAQRFTFDPNSNSLADQQSGNEVVRLGSNESRILLMLAERPNEVLTRNELHEFVWREQGFEVDDSSLTQAISTLRKMLKDSTKSPEFVKTVPKRGYQLICTVERLSPLSSDSSSIEVEEPASDNNDASANEVETIVEPSLATTSDAIVEPEAPVVPEKAPVASAVNPWIPRVILFLALLLPICVLLFTNPAESQFRQIGEYQNVPVMTPVNHPQINNWLPSIEQCIERYVKHHAEDSLPVEVIATGGQNNQLILNYIHDSNHSYENVTLRIFAGQNDPTDICK
UniProt ID: Q05938
Variant: A -> T at position 138-138
Variant annotation: in strain: AQ3810 and U-5474
Protein function: In the presence of ToxS, promotes the expression of the thermostable direct hemolysin 2. May be a global regulator.
Reference sequence:
MTNIGTKFLLAQRFTFDPNSNSLADQQSGNEVVRLGSNESRILLMLAERPNEVLTRNELHEFVWREQGFEVDDSSLTQAISTLRKMLKDSTKSPEFVKTVPKRGYQLICTVERLSPLSSDSSSIEVEEPASDNNDASANEVETIVEPSLATTSDAIVEPEAPVVPEKAPVASAVNPWIPRVILFLALLLPICVLLFTNPAESQFRQIGEYQNVPVMTPVNHPQINNWLPSIEQCIERYVKHHAEDSLPVEVIATGGQNNQLILNYIHDSNHSYENVTLRIFAGQNDPTDICK
UniProt ID: Q05938
Variant: SLA -> PLT at position 148-150
Variant annotation: in strain: DOH272 and AQ4901
Protein function: In the presence of ToxS, promotes the expression of the thermostable direct hemolysin 2. May be a global regulator.
Reference sequence:
MTNIGTKFLLAQRFTFDPNSNSLADQQSGNEVVRLGSNESRILLMLAERPNEVLTRNELHEFVWREQGFEVDDSSLTQAISTLRKMLKDSTKSPEFVKTVPKRGYQLICTVERLSPLSSDSSSIEVEEPASDNNDASANEVETIVEPSLATTSDAIVEPEAPVVPEKAPVASAVNPWIPRVILFLALLLPICVLLFTNPAESQFRQIGEYQNVPVMTPVNHPQINNWLPSIEQCIERYVKHHAEDSLPVEVIATGGQNNQLILNYIHDSNHSYENVTLRIFAGQNDPTDICK
UniProt ID: Q05938
Variant: T -> P at position 152-152
Variant annotation: in strain: Y-27669, AN-8917 and RIMD 2210086
Protein function: In the presence of ToxS, promotes the expression of the thermostable direct hemolysin 2. May be a global regulator.
Reference sequence:
MTNIGTKFLLAQRFTFDPNSNSLADQQSGNEVVRLGSNESRILLMLAERPNEVLTRNELHEFVWREQGFEVDDSSLTQAISTLRKMLKDSTKSPEFVKTVPKRGYQLICTVERLSPLSSDSSSIEVEEPASDNNDASANEVETIVEPSLATTSDAIVEPEAPVVPEKAPVASAVNPWIPRVILFLALLLPICVLLFTNPAESQFRQIGEYQNVPVMTPVNHPQINNWLPSIEQCIERYVKHHAEDSLPVEVIATGGQNNQLILNYIHDSNHSYENVTLRIFAGQNDPTDICK
UniProt ID: Q05938
Variant: T -> S at position 152-152
Variant annotation: in strain: AQ3815
Protein function: In the presence of ToxS, promotes the expression of the thermostable direct hemolysin 2. May be a global regulator.
Reference sequence:
MTNIGTKFLLAQRFTFDPNSNSLADQQSGNEVVRLGSNESRILLMLAERPNEVLTRNELHEFVWREQGFEVDDSSLTQAISTLRKMLKDSTKSPEFVKTVPKRGYQLICTVERLSPLSSDSSSIEVEEPASDNNDASANEVETIVEPSLATTSDAIVEPEAPVVPEKAPVASAVNPWIPRVILFLALLLPICVLLFTNPAESQFRQIGEYQNVPVMTPVNHPQINNWLPSIEQCIERYVKHHAEDSLPVEVIATGGQNNQLILNYIHDSNHSYENVTLRIFAGQNDPTDICK
UniProt ID: Q05938
Variant: P -> H at position 169-169
Variant annotation: in strain: AQ3815
Protein function: In the presence of ToxS, promotes the expression of the thermostable direct hemolysin 2. May be a global regulator.
Reference sequence:
MTNIGTKFLLAQRFTFDPNSNSLADQQSGNEVVRLGSNESRILLMLAERPNEVLTRNELHEFVWREQGFEVDDSSLTQAISTLRKMLKDSTKSPEFVKTVPKRGYQLICTVERLSPLSSDSSSIEVEEPASDNNDASANEVETIVEPSLATTSDAIVEPEAPVVPEKAPVASAVNPWIPRVILFLALLLPICVLLFTNPAESQFRQIGEYQNVPVMTPVNHPQINNWLPSIEQCIERYVKHHAEDSLPVEVIATGGQNNQLILNYIHDSNHSYENVTLRIFAGQNDPTDICK
UniProt ID: Q05940
Variant: P -> L at position 387-387
Variant annotation: in PKDYS2; strong decrease in serotonin transport; dbSNP:rs1392638187
Protein function: Involved in the ATP-dependent vesicular transport of biogenic amine neurotransmitters. Pumps cytosolic monoamines including dopamine, norepinephrine, serotonin, and histamine into synaptic vesicles . Requisite for vesicular amine storage prior to secretion via exocytosis.
Reference sequence:
MALSELALVRWLQESRRSRKLILFIVFLALLLDNMLLTVVVPIIPSYLYSIKHEKNATEIQTARPVHTASISDSFQSIFSYYDNSTMVTGNATRDLTLHQTATQHMVTNASAVPSDCPSEDKDLLNENVQVGLLFASKATVQLITNPFIGLLTNRIGYPIPIFAGFCIMFVSTIMFAFSSSYAFLLIARSLQGIGSSCSSVAGMGMLASVYTDDEERGNVMGIALGGLAMGVLVGPPFGSVLYEFVGKTAPFLVLAALVLLDGAIQLFVLQPSRVQPESQKGTPLTTLLKDPYILIAAGSICFANMGIAMLEPALPIWMMETMCSRKWQLGVAFLPASISYLIGTNIFGILAHKMGRWLCALLGMIIVGVSILCIPFAKNIYGLIAPNFGVGFAIGMVDSSMMPIMGYLVDLRHVSVYGSVYAIADVAFCMGYAIGPSAGGAIAKAIGFPWLMTIIGIIDILFAPLCFFLRSPPAKEEKMAILMDHNCPIKTKMYTQNNIQSYPIGEDEESESD
UniProt ID: Q05952
Variant: R -> W at position 131-131
Variant annotation: in dbSNP:rs11640138
Protein function: Plays a key role in the replacement of histones to protamine in the elongating spermatids of mammals. In condensing spermatids, loaded onto the nucleosomes, where it promotes the recruitment and processing of protamines, which are responsible for histone eviction.
Reference sequence:
MDTQTHSLPITHTQLHSNSQPQSRTCTRHCQTFSQSCRQSHRGSRSQSSSQSPASHRNPTGAHSSSGHQSQSPNTSPPPKRHKKTMNSHHSPMRPTILHCRCPKNRKNLEGKLKKKKMAKRIQQVYKTKTRSSGWKSN
UniProt ID: Q05967
Variant: I -> V at position 154-154
Protein function: May function in depolymerizing pectin during pollen development, germination, and tube growth.
Reference sequence:
MDLKFKVHFALVLLFLAHFGESQTGVFDITKYGANSNADISEALLNAFKEACQSTSPSTIVIPKGTFTMNQVKLEGPCKSPLELQIQATLKAPSDPSQLKVGEWLTVNKLDQFTMSGGGILDGQAAAAWECKQSKKCNKLPNNLSFNSLTNSTIKDITTLDSKSFHVNVNQCKNLTFIRFNVSAPANSPNTDGIHVSRSSSVNITDSNFSTGDDCISVGDETEQLYITRVTCGPGHGISVGSLGGNPDEKPVVGVFVRNCTFTNTDNGVRIKTWPASHPGVVNDVHFEDIIVQNVSNPVVIDQVYCPFNKCNKDLPSQVKISKVSFQNIKGTSRTQDAVSLLRSKGVPCEGIEVGDIDITYSGKEGPAKSSCENIKPSLKGKQNPPVCTASAASSS
UniProt ID: Q05967
Variant: R -> S at position 258-258
Protein function: May function in depolymerizing pectin during pollen development, germination, and tube growth.
Reference sequence:
MDLKFKVHFALVLLFLAHFGESQTGVFDITKYGANSNADISEALLNAFKEACQSTSPSTIVIPKGTFTMNQVKLEGPCKSPLELQIQATLKAPSDPSQLKVGEWLTVNKLDQFTMSGGGILDGQAAAAWECKQSKKCNKLPNNLSFNSLTNSTIKDITTLDSKSFHVNVNQCKNLTFIRFNVSAPANSPNTDGIHVSRSSSVNITDSNFSTGDDCISVGDETEQLYITRVTCGPGHGISVGSLGGNPDEKPVVGVFVRNCTFTNTDNGVRIKTWPASHPGVVNDVHFEDIIVQNVSNPVVIDQVYCPFNKCNKDLPSQVKISKVSFQNIKGTSRTQDAVSLLRSKGVPCEGIEVGDIDITYSGKEGPAKSSCENIKPSLKGKQNPPVCTASAASSS
UniProt ID: Q05967
Variant: F -> V at position 262-262
Protein function: May function in depolymerizing pectin during pollen development, germination, and tube growth.
Reference sequence:
MDLKFKVHFALVLLFLAHFGESQTGVFDITKYGANSNADISEALLNAFKEACQSTSPSTIVIPKGTFTMNQVKLEGPCKSPLELQIQATLKAPSDPSQLKVGEWLTVNKLDQFTMSGGGILDGQAAAAWECKQSKKCNKLPNNLSFNSLTNSTIKDITTLDSKSFHVNVNQCKNLTFIRFNVSAPANSPNTDGIHVSRSSSVNITDSNFSTGDDCISVGDETEQLYITRVTCGPGHGISVGSLGGNPDEKPVVGVFVRNCTFTNTDNGVRIKTWPASHPGVVNDVHFEDIIVQNVSNPVVIDQVYCPFNKCNKDLPSQVKISKVSFQNIKGTSRTQDAVSLLRSKGVPCEGIEVGDIDITYSGKEGPAKSSCENIKPSLKGKQNPPVCTASAASSS
UniProt ID: Q05967
Variant: H -> R at position 286-286
Protein function: May function in depolymerizing pectin during pollen development, germination, and tube growth.
Reference sequence:
MDLKFKVHFALVLLFLAHFGESQTGVFDITKYGANSNADISEALLNAFKEACQSTSPSTIVIPKGTFTMNQVKLEGPCKSPLELQIQATLKAPSDPSQLKVGEWLTVNKLDQFTMSGGGILDGQAAAAWECKQSKKCNKLPNNLSFNSLTNSTIKDITTLDSKSFHVNVNQCKNLTFIRFNVSAPANSPNTDGIHVSRSSSVNITDSNFSTGDDCISVGDETEQLYITRVTCGPGHGISVGSLGGNPDEKPVVGVFVRNCTFTNTDNGVRIKTWPASHPGVVNDVHFEDIIVQNVSNPVVIDQVYCPFNKCNKDLPSQVKISKVSFQNIKGTSRTQDAVSLLRSKGVPCEGIEVGDIDITYSGKEGPAKSSCENIKPSLKGKQNPPVCTASAASSS
UniProt ID: Q05967
Variant: R -> C at position 343-343
Variant annotation: in clones G27W, G27X and G27Y
Protein function: May function in depolymerizing pectin during pollen development, germination, and tube growth.
Reference sequence:
MDLKFKVHFALVLLFLAHFGESQTGVFDITKYGANSNADISEALLNAFKEACQSTSPSTIVIPKGTFTMNQVKLEGPCKSPLELQIQATLKAPSDPSQLKVGEWLTVNKLDQFTMSGGGILDGQAAAAWECKQSKKCNKLPNNLSFNSLTNSTIKDITTLDSKSFHVNVNQCKNLTFIRFNVSAPANSPNTDGIHVSRSSSVNITDSNFSTGDDCISVGDETEQLYITRVTCGPGHGISVGSLGGNPDEKPVVGVFVRNCTFTNTDNGVRIKTWPASHPGVVNDVHFEDIIVQNVSNPVVIDQVYCPFNKCNKDLPSQVKISKVSFQNIKGTSRTQDAVSLLRSKGVPCEGIEVGDIDITYSGKEGPAKSSCENIKPSLKGKQNPPVCTASAASSS
UniProt ID: Q05967
Variant: G -> D at position 381-381
Variant annotation: in clone G27W
Protein function: May function in depolymerizing pectin during pollen development, germination, and tube growth.
Reference sequence:
MDLKFKVHFALVLLFLAHFGESQTGVFDITKYGANSNADISEALLNAFKEACQSTSPSTIVIPKGTFTMNQVKLEGPCKSPLELQIQATLKAPSDPSQLKVGEWLTVNKLDQFTMSGGGILDGQAAAAWECKQSKKCNKLPNNLSFNSLTNSTIKDITTLDSKSFHVNVNQCKNLTFIRFNVSAPANSPNTDGIHVSRSSSVNITDSNFSTGDDCISVGDETEQLYITRVTCGPGHGISVGSLGGNPDEKPVVGVFVRNCTFTNTDNGVRIKTWPASHPGVVNDVHFEDIIVQNVSNPVVIDQVYCPFNKCNKDLPSQVKISKVSFQNIKGTSRTQDAVSLLRSKGVPCEGIEVGDIDITYSGKEGPAKSSCENIKPSLKGKQNPPVCTASAASSS
UniProt ID: Q05996
Variant: G -> V at position 36-36
Variant annotation: in dbSNP:rs2075520
Protein function: Component of the zona pellucida, an extracellular matrix surrounding oocytes which mediates sperm binding, induction of the acrosome reaction and prevents post-fertilization polyspermy . The zona pellucida is composed of 3 to 4 glycoproteins, ZP1, ZP2, ZP3, and ZP4. ZP2 may act as a secondary sperm receptor .
Reference sequence:
MACRQRGGSWSPSGWFNAGWSTYRSISLFFALVTSGNSIDVSQLVNPAFPGTVTCDEREITVEFPSSPGTKKWHASVVDPLGLDMPNCTYILDPEKLTLRATYDNCTRRVHGGHQMTIRVMNNSAALRHGAVMYQFFCPAMQVEETQGLSASTICQKDFMSFSLPRVFSGLADDSKGTKVQMGWSIEVGDGARAKTLTLPEAMKEGFSLLIDNHRMTFHVPFNATGVTHYVQGNSHLYMVSLKLTFISPGQKVIFSSQAICAPDPVTCNATHMTLTIPEFPGKLKSVSFENQNIDVSQLHDNGIDLEATNGMKLHFSKTLLKTKLSEKCLLHQFYLASLKLTFLLRPETVSMVIYPECLCESPVSIVTGELCTQDGFMDVEVYSYQTQPALDLGTLRVGNSSCQPVFEAQSQGLVRFHIPLNGCGTRYKFEDDKVVYENEIHALWTDFPPSKISRDSEFRMTVKCSYSRNDMLLNINVESLTPPVASVKLGPFTLILQSYPDNSYQQPYGENEYPLVRFLRQPIYMEVRVLNRDDPNIKLVLDDCWATSTMDPDSFPQWNVVVDGCAYDLDNYQTTFHPVGSSVTHPDHYQRFDMKAFAFVSEAHVLSSLVYFHCSALICNRLSPDSPLCSVTCPVSSRHRRATGATEAEKMTVSLPGPILLLSDDSSFRGVGSSDLKASGSSGEKSRSETGEEVGSRGAMDTKGHKTAGDVGSKAVAAVAAFAGVVATLGFIYYLYEKRTVSNH
UniProt ID: Q05D32
Variant: A -> V at position 244-244
Variant annotation: in dbSNP:rs871923
Protein function: Probable phosphatase.
Reference sequence:
MRLRTRKASQQSNQIQTQRTARAKRKYSEVDDSLPSGGEKPSKNETGLLSSIKKFIKGSTPKEERENPSKRSRIERDIDNNLITSTPRAGEKPNKQISRVRRKSQVNGEAGSYEMTNQHVKQNGKLEDNPSSGSPPRTTLLGTIFSPVFNFFSPANKNGTSGSDSPGQAVEAEEIVKQLDMEQVDEITTSTTTSTNGAAYSNQAVQVRPSLNNGLEEAEETVNRDIPPLTAPVTPDSGYSSAHAEATYEEDWEVFDPYYFIKHVPPLTEEQLNRKPALPLKTRSTPEFSLVLDLDETLVHCSLNELEDAALTFPVLFQDVIYQVYVRLRPFFREFLERMSQMYEIILFTASKKVYADKLLNILDPKKQLVRHRLFREHCVCVQGNYIKDLNILGRDLSKTIIIDNSPQAFAYQLSNGIPIESWFMDKNDNELLKLIPFLEKLVELNEDVRPHIRDRFRLHDLLPPD
UniProt ID: Q05DH4
Variant: R -> C at position 943-943
Variant annotation: found in siblings with familial natural-killer/T-cell lymphoma; uncertain significance
Protein function: Probable component of the FTS/Hook/FHIP complex (FHF complex) . FHF complex promotes the distribution of AP-4 complex to the perinuclear area of the cell .
Reference sequence:
MMSSVSTESKLQQAVSLQGVDPETCMIVFKNHWAQVVKILEKHDPLKNTQAKYGSIPPDEASAVQNYVEHMLFLLIEEQAKDAAMGPILEFVVSENIMEKLFLWSLRREFTDETKIEQLKMYEMLVTQSHQPLLHHKPILKPLMMLLSSCSGTTTPTVEEKLVVLLNQLCSILAKDPSILELFFHTSEDQGAANFLIFSLLIPFIHREGSVGQQARDALLFIMSLSAENTMVAHHIVENTYFCPVLATGLSGLYSSLPTKLEEKGEEWHCLLKDDWLLLPSLVQFMNSLEFCNAVIQVAHPLIRNQLVNYIYNGFLVPVLAPALHKVTVEEVMTTTAYLDLFLRSISEPALLEIFLRFILLHQHENVHILDTLTSRINTPFRLCVVSLALFRTLIGLHCEDVMLQLVLRYLIPCNHMMLSQRWAVKERDCYSVSAAKLLALTPVCCSSGITLTLGNQERDYILWSKCMHDTSGPVERPFPEAFSESACIVEYGKALDISYLQYLWEAHTNILRCMRDCRVWSALYDGDSPDPEMFLQSLTEEGSVSSACPVFGLPQQLPRKTGPQLAPRKDKSQTELEWDDSYDTGISSGADVGSPGPYDDLEVSGPPAPIDPPKHIQEMKKNALLLFKGSYIEESDFQDDVMVYRLCAEKDSEDMKDSQEEAARPPAEAQAEVQSVPINNGPLLSTQPETDSEEEWNRDNSDPFHSEPKEPKQEREPEAAPESNSELASPAPEAEHSSNLTAAHPESEELIAQYDQIIKELDSGAEGLMEQNYPTPDPLLLTKEEEGKEESKGEKEKEGKKELEDEEDDFDSFIAEMPAVETVPSPFVGRDEAAFASRHPVRTQSTPFTGPFISVVLSKLENMLENSLHVNLLLIGIITQLASYPQPLLRSFLLNTNMVFQPSVRSLYQVLASVKNKIEQFASVERDFPGLLIQAQQYLLFRVDMSDMTPAALTKDPIQEASRTGSGKNLLDGPPRVLQPFLTHRTKVAEAPPNLPLPVRNPMLAAALFPEFLKELAALAQEHSILCYKILGDFEDSCC
UniProt ID: Q06033
Variant: Q -> K at position 315-315
Variant annotation: in dbSNP:rs3617
Protein function: May act as a carrier of hyaluronan in serum or as a binding protein between hyaluronan and other matrix protein, including those on cell surfaces in tissues to regulate the localization, synthesis and degradation of hyaluronan which are essential to cells undergoing biological processes.
Reference sequence:
MAFAWWPCLILALLSSLAASGFPRSPFRLLGKRSLPEGVANGIEVYSTKINSKVTSRFAHNVVTMRAVNRADTAKEVSFDVELPKTAFITNFTLTIDGVTYPGNVKEKEVAKKQYEKAVSQGKTAGLVKASGRKLEKFTVSVNVAAGSKVTFELTYEELLKRHKGKYEMYLKVQPKQLVKHFEIEVDIFEPQGISMLDAEASFITNDLLGSALTKSFSGKKGHVSFKPSLDQQRSCPTCTDSLLNGDFTITYDVNRESPGNVQIVNGYFVHFFAPQGLPVVPKNVAFVIDISGSMAGRKLEQTKEALLRILEDMQEEDYLNFILFSGDVSTWKEHLVQATPENLQEARTFVKSMEDKGMTNINDGLLRGISMLNKAREEHRIPERSTSIVIMLTDGDANVGESRPEKIQENVRNAIGGKFPLYNLGFGNNLNYNFLENMALENHGFARRIYEDSDADLQLQGFYEEVANPLLTGVEMEYPENAILDLTQNTYQHFYDGSEIVVAGRLVDEDMNSFKADVKGHGATNDLTFTEEVDMKEMEKALQERDYIFGNYIERLWAYLTIEQLLEKRKNAHGEEKENLTARALDLSLKYHFVTPLTSMVVTKPEDNEDERAIADKPGEDAEATPVSPAMSYLTSYQPPQNPYYYVDGDPHFIIQIPEKDDALCFNIDEAPGTVLRLIQDAVTGLTVNGQITGDKRGSPDSKTRKTYFGKLGIANAQMDFQVEVTTEKITLWNRAVPSTFSWLDTVTVTQDGLSMMINRKNMVVSFGDGVTFVVVLHQVWKKHPVHRDFLGFYVVDSHRMSAQTHGLLGQFFQPFDFKVSDIRPGSDPTKPDATLVVKNHQLIVTRGSQKDYRKDASIGTKVVCWFVHNNGEGLIDGVHTDYIVPNLF