sujigwak/NVAR huggingface dataset:
UniProt ID: P53924
Variant: I -> T at position 202-202
Variant annotation: in strain: YJM 269, YJM 270, YJM 326 and YJM 1129
Protein function: E3 ubiquitin-protein ligase which functions in cell cycle retarding in conjunction with the UBC4 and UBC13/MMS2 complex, 2 E2 ubiquitin conjugating enzymes. Involved in nutritional control of the cell cycle. Required for proper spindle positioning, likely regulating septin ring deposition at the bud neck.
Reference sequence:
MYTPIPANTPAPTAPTSSMTSNSSSASNANTTSSSGINPRNRASGTPSNERARPASGISSFLNTFGIRQNSQTASSSAAPDQRLFGTTPSNSHMSVAMESIDTAPQQQEPRLHHPIQMPLSAQFHVHRNYQLPISISLTAPTTTDHQQSSAHNFEGNNVGNVQESLNQRQPNGTNNTTTSIISMAPAATTRNIVGGADGSTIVNNSQEMYKNLRHLIYAANQPNGTEILHLDLPATSAEESNNMFNVDEVTLKQRKDKHGLFSIRLTPFIDSSSTTNQGLFFEPIIRKAGPGSQLVIGRYTERVRDAISKIPEQYHPVVFKSKVVSRTHGCFKVDSQGNWYIKDVKSSSGTFLNHQRLSPASSLSKDTPLRDGDILQLGMDFRGGTEEIYRCVRMRIELNRSWKLKANSFNKEALQRLQNLQKLTTGIEEEDCSICLCKIKPCQAIFISPCAHSWHFRCVRRLVMLSYPQFVCPNCRSSCDLEASFESSDEEDESDVESEGDQLVDQLSVLMETSKDVDSHP
UniProt ID: P53924
Variant: E -> Q at position 239-239
Variant annotation: in strain: YJM 267
Protein function: E3 ubiquitin-protein ligase which functions in cell cycle retarding in conjunction with the UBC4 and UBC13/MMS2 complex, 2 E2 ubiquitin conjugating enzymes. Involved in nutritional control of the cell cycle. Required for proper spindle positioning, likely regulating septin ring deposition at the bud neck.
Reference sequence:
MYTPIPANTPAPTAPTSSMTSNSSSASNANTTSSSGINPRNRASGTPSNERARPASGISSFLNTFGIRQNSQTASSSAAPDQRLFGTTPSNSHMSVAMESIDTAPQQQEPRLHHPIQMPLSAQFHVHRNYQLPISISLTAPTTTDHQQSSAHNFEGNNVGNVQESLNQRQPNGTNNTTTSIISMAPAATTRNIVGGADGSTIVNNSQEMYKNLRHLIYAANQPNGTEILHLDLPATSAEESNNMFNVDEVTLKQRKDKHGLFSIRLTPFIDSSSTTNQGLFFEPIIRKAGPGSQLVIGRYTERVRDAISKIPEQYHPVVFKSKVVSRTHGCFKVDSQGNWYIKDVKSSSGTFLNHQRLSPASSLSKDTPLRDGDILQLGMDFRGGTEEIYRCVRMRIELNRSWKLKANSFNKEALQRLQNLQKLTTGIEEEDCSICLCKIKPCQAIFISPCAHSWHFRCVRRLVMLSYPQFVCPNCRSSCDLEASFESSDEEDESDVESEGDQLVDQLSVLMETSKDVDSHP
UniProt ID: P53924
Variant: I -> V at position 428-428
Variant annotation: in strain: SK1, V1-09, YJM 267, YJM 269, YJM 270, YJM 280, YJM 320,YJM 326, YJM 339 and YJM 1129
Protein function: E3 ubiquitin-protein ligase which functions in cell cycle retarding in conjunction with the UBC4 and UBC13/MMS2 complex, 2 E2 ubiquitin conjugating enzymes. Involved in nutritional control of the cell cycle. Required for proper spindle positioning, likely regulating septin ring deposition at the bud neck.
Reference sequence:
MYTPIPANTPAPTAPTSSMTSNSSSASNANTTSSSGINPRNRASGTPSNERARPASGISSFLNTFGIRQNSQTASSSAAPDQRLFGTTPSNSHMSVAMESIDTAPQQQEPRLHHPIQMPLSAQFHVHRNYQLPISISLTAPTTTDHQQSSAHNFEGNNVGNVQESLNQRQPNGTNNTTTSIISMAPAATTRNIVGGADGSTIVNNSQEMYKNLRHLIYAANQPNGTEILHLDLPATSAEESNNMFNVDEVTLKQRKDKHGLFSIRLTPFIDSSSTTNQGLFFEPIIRKAGPGSQLVIGRYTERVRDAISKIPEQYHPVVFKSKVVSRTHGCFKVDSQGNWYIKDVKSSSGTFLNHQRLSPASSLSKDTPLRDGDILQLGMDFRGGTEEIYRCVRMRIELNRSWKLKANSFNKEALQRLQNLQKLTTGIEEEDCSICLCKIKPCQAIFISPCAHSWHFRCVRRLVMLSYPQFVCPNCRSSCDLEASFESSDEEDESDVESEGDQLVDQLSVLMETSKDVDSHP
UniProt ID: P53934
Variant: A -> E at position 42-42
Variant annotation: in strain: SK1
Protein function: N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).
Reference sequence:
MDENEFDNQRENKAVARVIISFLKYEEYALKEIYNLRVKKWASISDRQKDMVPNYTKYLANLKAAIIENGKFFRSVAEYALQSISFEPGEIVQPNDLDMSKTCSLLTQVYREWSAEAISERNCLNSRLVPFLKTLSPPKADILIPGCGTGRLLVDLSRMGYNCEGNEFSYHMLLVSQYMLNAGLLQNQIIIYPFIHCFSHWKKIEDQLSPIKVPDIEAWSSNKGMGSMSICAGSFVDCYGRNQGTKISSHYTFSRRMQLSRAKAENSKDVVVTNFFIDTGSNILDYLDTIGHVLKPGGIWCNFGPLLYHFENDHGVETTYEVNPYSGFQDKINDYTPLMGLELSSDDIISIATNHLDFELIRRESGILCGYGRYAGPESCAMPGYMCHYWILKSNPTNES
UniProt ID: P53934
Variant: V -> M at position 154-154
Variant annotation: in strain: SK1
Protein function: N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).
Reference sequence:
MDENEFDNQRENKAVARVIISFLKYEEYALKEIYNLRVKKWASISDRQKDMVPNYTKYLANLKAAIIENGKFFRSVAEYALQSISFEPGEIVQPNDLDMSKTCSLLTQVYREWSAEAISERNCLNSRLVPFLKTLSPPKADILIPGCGTGRLLVDLSRMGYNCEGNEFSYHMLLVSQYMLNAGLLQNQIIIYPFIHCFSHWKKIEDQLSPIKVPDIEAWSSNKGMGSMSICAGSFVDCYGRNQGTKISSHYTFSRRMQLSRAKAENSKDVVVTNFFIDTGSNILDYLDTIGHVLKPGGIWCNFGPLLYHFENDHGVETTYEVNPYSGFQDKINDYTPLMGLELSSDDIISIATNHLDFELIRRESGILCGYGRYAGPESCAMPGYMCHYWILKSNPTNES
UniProt ID: P53934
Variant: E -> D at position 317-317
Variant annotation: in strain: SK1
Protein function: N-methyltransferase that mediates the formation of anserine (beta-alanyl-N(Pi)-methyl-L-histidine) from carnosine. Also methylates other L-histidine-containing di- and tripeptides such as Gly-Gly-His, Gly-His and homocarnosine (GABA-His).
Reference sequence:
MDENEFDNQRENKAVARVIISFLKYEEYALKEIYNLRVKKWASISDRQKDMVPNYTKYLANLKAAIIENGKFFRSVAEYALQSISFEPGEIVQPNDLDMSKTCSLLTQVYREWSAEAISERNCLNSRLVPFLKTLSPPKADILIPGCGTGRLLVDLSRMGYNCEGNEFSYHMLLVSQYMLNAGLLQNQIIIYPFIHCFSHWKKIEDQLSPIKVPDIEAWSSNKGMGSMSICAGSFVDCYGRNQGTKISSHYTFSRRMQLSRAKAENSKDVVVTNFFIDTGSNILDYLDTIGHVLKPGGIWCNFGPLLYHFENDHGVETTYEVNPYSGFQDKINDYTPLMGLELSSDDIISIATNHLDFELIRRESGILCGYGRYAGPESCAMPGYMCHYWILKSNPTNES
UniProt ID: P53935
Variant: D -> A at position 162-162
Variant annotation: in strain: SK1
Protein function: With MSL1, acts as a negative regulator of salt tolerance.
Reference sequence:
MPPNSKSKRRKNKSKQHNKKNGNSDPEQSINPTQLVPRMEPELYHTESDYPTSRVIKRAPNGDVIVEPINTDDDKKERTANLTHNKDSMDSASSLAFTLDSHWESLSPEEKKTILRIEKEEVFNVIRNYQDDHSCSCSVCGRRHLAMDQEMERIYNTLYAMDKDKDPETNPIKFHLGIIKELQISKNQQQNDLSSTKGEVVKNFLSSSTVGSLKEEVLHFKQKQLSKQEQAHNETADNTSLLEENLNNIHINKTSSEISANFNSVSDEELQQKYSNFTKTFISSHPKIAEEYVQKMMMYPNIRALTDDLMNSNGQGFLNAIEDFVRDGQIQASKKDDSITEDEASSTDLTDPKEFTTMLHSGKPLTEDEYADLQRNIAERMTNAYDTASKKFKDVSQLEKELFTRFMSGRDKKSFRELIIQSFKNKFDGELGPSVLAATLSSCFSSQSKDTSLDTDSIYEDEDEEDYDDYSEYAEDSEEVSEYEGIEAVEKPEHDEKSNGIRETLHLSYDHDHKRQNHPHHHYHSTSTHSEDELSEEEYISDIELPHDPHKHFHRDDDILDGDEDEPEEEDENEGDDEEDTYDSGLDETDRLEEGRKLIQIAITKLLQSRIMASYHEKQADNNRLKLLQELEEEKRKKREKEEKKQKKREKEKEKKRLQQLAKEEEKRKREEEKERLKKELEEREMRRREAQRKKVEEAKRKKDEERKRRLEEQQRREEMQEKQRKQKEELKRKREEEKKRIREQKRLEQEKLQKEKEEEERQRLIAEDALRKQKLNEEQTSANILSAKPFTENGVGNPVSSQSHPNMTNYQEDNSCSINDEILKMVNSVAASKPVSPTGFNVHDLLLPSTNNQMPAMEQSHLPQPGNQNNHFGTTTIPNALDLATKSSLQTENNYLMNSQTLENTSLLMHNNSSPTKLLPNDFGLSSWGGLTNTMSINPTCKPPVIQTSEMESQAHKSSPQATMPSFGLPNGGTHRKSFTDELNTLTSMLSSSGFADTSLSSSGFPPSQRSVWNDQKSSFSGPSTAGNFNNSSIQSGMLLAPTLGSVESFPNRTSIWDSSTTPMMNKSELSGRNITSTAQDSPAFMASNIWSSNSQYNSPYLTSNVLQSPQISSGVDESHILDSIYNTYLAISPQDSLNPYIAIGTLFQNLVGLNLDYSTFINKLISMQGAYNCEFFTDNNGSITHVRFARQTPAGHSKGLLNQLFSGLNDPTATPFTSRPHTSTRASFPIASSTTQTS
UniProt ID: P53935
Variant: S -> G at position 208-208
Variant annotation: in strain: SK1
Protein function: With MSL1, acts as a negative regulator of salt tolerance.
Reference sequence:
MPPNSKSKRRKNKSKQHNKKNGNSDPEQSINPTQLVPRMEPELYHTESDYPTSRVIKRAPNGDVIVEPINTDDDKKERTANLTHNKDSMDSASSLAFTLDSHWESLSPEEKKTILRIEKEEVFNVIRNYQDDHSCSCSVCGRRHLAMDQEMERIYNTLYAMDKDKDPETNPIKFHLGIIKELQISKNQQQNDLSSTKGEVVKNFLSSSTVGSLKEEVLHFKQKQLSKQEQAHNETADNTSLLEENLNNIHINKTSSEISANFNSVSDEELQQKYSNFTKTFISSHPKIAEEYVQKMMMYPNIRALTDDLMNSNGQGFLNAIEDFVRDGQIQASKKDDSITEDEASSTDLTDPKEFTTMLHSGKPLTEDEYADLQRNIAERMTNAYDTASKKFKDVSQLEKELFTRFMSGRDKKSFRELIIQSFKNKFDGELGPSVLAATLSSCFSSQSKDTSLDTDSIYEDEDEEDYDDYSEYAEDSEEVSEYEGIEAVEKPEHDEKSNGIRETLHLSYDHDHKRQNHPHHHYHSTSTHSEDELSEEEYISDIELPHDPHKHFHRDDDILDGDEDEPEEEDENEGDDEEDTYDSGLDETDRLEEGRKLIQIAITKLLQSRIMASYHEKQADNNRLKLLQELEEEKRKKREKEEKKQKKREKEKEKKRLQQLAKEEEKRKREEEKERLKKELEEREMRRREAQRKKVEEAKRKKDEERKRRLEEQQRREEMQEKQRKQKEELKRKREEEKKRIREQKRLEQEKLQKEKEEEERQRLIAEDALRKQKLNEEQTSANILSAKPFTENGVGNPVSSQSHPNMTNYQEDNSCSINDEILKMVNSVAASKPVSPTGFNVHDLLLPSTNNQMPAMEQSHLPQPGNQNNHFGTTTIPNALDLATKSSLQTENNYLMNSQTLENTSLLMHNNSSPTKLLPNDFGLSSWGGLTNTMSINPTCKPPVIQTSEMESQAHKSSPQATMPSFGLPNGGTHRKSFTDELNTLTSMLSSSGFADTSLSSSGFPPSQRSVWNDQKSSFSGPSTAGNFNNSSIQSGMLLAPTLGSVESFPNRTSIWDSSTTPMMNKSELSGRNITSTAQDSPAFMASNIWSSNSQYNSPYLTSNVLQSPQISSGVDESHILDSIYNTYLAISPQDSLNPYIAIGTLFQNLVGLNLDYSTFINKLISMQGAYNCEFFTDNNGSITHVRFARQTPAGHSKGLLNQLFSGLNDPTATPFTSRPHTSTRASFPIASSTTQTS
UniProt ID: P53935
Variant: E -> D at position 354-354
Variant annotation: in strain: SK1
Protein function: With MSL1, acts as a negative regulator of salt tolerance.
Reference sequence:
MPPNSKSKRRKNKSKQHNKKNGNSDPEQSINPTQLVPRMEPELYHTESDYPTSRVIKRAPNGDVIVEPINTDDDKKERTANLTHNKDSMDSASSLAFTLDSHWESLSPEEKKTILRIEKEEVFNVIRNYQDDHSCSCSVCGRRHLAMDQEMERIYNTLYAMDKDKDPETNPIKFHLGIIKELQISKNQQQNDLSSTKGEVVKNFLSSSTVGSLKEEVLHFKQKQLSKQEQAHNETADNTSLLEENLNNIHINKTSSEISANFNSVSDEELQQKYSNFTKTFISSHPKIAEEYVQKMMMYPNIRALTDDLMNSNGQGFLNAIEDFVRDGQIQASKKDDSITEDEASSTDLTDPKEFTTMLHSGKPLTEDEYADLQRNIAERMTNAYDTASKKFKDVSQLEKELFTRFMSGRDKKSFRELIIQSFKNKFDGELGPSVLAATLSSCFSSQSKDTSLDTDSIYEDEDEEDYDDYSEYAEDSEEVSEYEGIEAVEKPEHDEKSNGIRETLHLSYDHDHKRQNHPHHHYHSTSTHSEDELSEEEYISDIELPHDPHKHFHRDDDILDGDEDEPEEEDENEGDDEEDTYDSGLDETDRLEEGRKLIQIAITKLLQSRIMASYHEKQADNNRLKLLQELEEEKRKKREKEEKKQKKREKEKEKKRLQQLAKEEEKRKREEEKERLKKELEEREMRRREAQRKKVEEAKRKKDEERKRRLEEQQRREEMQEKQRKQKEELKRKREEEKKRIREQKRLEQEKLQKEKEEEERQRLIAEDALRKQKLNEEQTSANILSAKPFTENGVGNPVSSQSHPNMTNYQEDNSCSINDEILKMVNSVAASKPVSPTGFNVHDLLLPSTNNQMPAMEQSHLPQPGNQNNHFGTTTIPNALDLATKSSLQTENNYLMNSQTLENTSLLMHNNSSPTKLLPNDFGLSSWGGLTNTMSINPTCKPPVIQTSEMESQAHKSSPQATMPSFGLPNGGTHRKSFTDELNTLTSMLSSSGFADTSLSSSGFPPSQRSVWNDQKSSFSGPSTAGNFNNSSIQSGMLLAPTLGSVESFPNRTSIWDSSTTPMMNKSELSGRNITSTAQDSPAFMASNIWSSNSQYNSPYLTSNVLQSPQISSGVDESHILDSIYNTYLAISPQDSLNPYIAIGTLFQNLVGLNLDYSTFINKLISMQGAYNCEFFTDNNGSITHVRFARQTPAGHSKGLLNQLFSGLNDPTATPFTSRPHTSTRASFPIASSTTQTS
UniProt ID: P53935
Variant: N -> D at position 899-899
Variant annotation: in strain: SK1
Protein function: With MSL1, acts as a negative regulator of salt tolerance.
Reference sequence:
MPPNSKSKRRKNKSKQHNKKNGNSDPEQSINPTQLVPRMEPELYHTESDYPTSRVIKRAPNGDVIVEPINTDDDKKERTANLTHNKDSMDSASSLAFTLDSHWESLSPEEKKTILRIEKEEVFNVIRNYQDDHSCSCSVCGRRHLAMDQEMERIYNTLYAMDKDKDPETNPIKFHLGIIKELQISKNQQQNDLSSTKGEVVKNFLSSSTVGSLKEEVLHFKQKQLSKQEQAHNETADNTSLLEENLNNIHINKTSSEISANFNSVSDEELQQKYSNFTKTFISSHPKIAEEYVQKMMMYPNIRALTDDLMNSNGQGFLNAIEDFVRDGQIQASKKDDSITEDEASSTDLTDPKEFTTMLHSGKPLTEDEYADLQRNIAERMTNAYDTASKKFKDVSQLEKELFTRFMSGRDKKSFRELIIQSFKNKFDGELGPSVLAATLSSCFSSQSKDTSLDTDSIYEDEDEEDYDDYSEYAEDSEEVSEYEGIEAVEKPEHDEKSNGIRETLHLSYDHDHKRQNHPHHHYHSTSTHSEDELSEEEYISDIELPHDPHKHFHRDDDILDGDEDEPEEEDENEGDDEEDTYDSGLDETDRLEEGRKLIQIAITKLLQSRIMASYHEKQADNNRLKLLQELEEEKRKKREKEEKKQKKREKEKEKKRLQQLAKEEEKRKREEEKERLKKELEEREMRRREAQRKKVEEAKRKKDEERKRRLEEQQRREEMQEKQRKQKEELKRKREEEKKRIREQKRLEQEKLQKEKEEEERQRLIAEDALRKQKLNEEQTSANILSAKPFTENGVGNPVSSQSHPNMTNYQEDNSCSINDEILKMVNSVAASKPVSPTGFNVHDLLLPSTNNQMPAMEQSHLPQPGNQNNHFGTTTIPNALDLATKSSLQTENNYLMNSQTLENTSLLMHNNSSPTKLLPNDFGLSSWGGLTNTMSINPTCKPPVIQTSEMESQAHKSSPQATMPSFGLPNGGTHRKSFTDELNTLTSMLSSSGFADTSLSSSGFPPSQRSVWNDQKSSFSGPSTAGNFNNSSIQSGMLLAPTLGSVESFPNRTSIWDSSTTPMMNKSELSGRNITSTAQDSPAFMASNIWSSNSQYNSPYLTSNVLQSPQISSGVDESHILDSIYNTYLAISPQDSLNPYIAIGTLFQNLVGLNLDYSTFINKLISMQGAYNCEFFTDNNGSITHVRFARQTPAGHSKGLLNQLFSGLNDPTATPFTSRPHTSTRASFPIASSTTQTS
UniProt ID: P53985
Variant: S -> G at position 85-85
Variant annotation: in dbSNP:rs11551867
Protein function: Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.
Reference sequence:
MPPAVGGPVGYTPPDGGWGWAVVIGAFISIGFSYAFPKSITVFFKEIEGIFHATTSEVSWISSIMLAVMYGGGPISSILVNKYGSRIVMIVGGCLSGCGLIAASFCNTVQQLYVCIGVIGGLGLAFNLNPALTMIGKYFYKRRPLANGLAMAGSPVFLCTLAPLNQVFFGIFGWRGSFLILGGLLLNCCVAGALMRPIGPKPTKAGKDKSKASLEKAGKSGVKKDLHDANTDLIGRHPKQEKRSVFQTINQFLDLTLFTHRGFLLYLSGNVIMFFGLFAPLVFLSSYGKSQHYSSEKSAFLLSILAFVDMVARPSMGLVANTKPIRPRIQYFFAASVVANGVCHMLAPLSTTYVGFCVYAGFFGFAFGWLSSVLFETLMDLVGPQRFSSAVGLVTIVECCPVLLGPPLLGRLNDMYGDYKYTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV
UniProt ID: P53985
Variant: K -> E at position 204-204
Variant annotation: in SDLT; dbSNP:rs80358222
Protein function: Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.
Reference sequence:
MPPAVGGPVGYTPPDGGWGWAVVIGAFISIGFSYAFPKSITVFFKEIEGIFHATTSEVSWISSIMLAVMYGGGPISSILVNKYGSRIVMIVGGCLSGCGLIAASFCNTVQQLYVCIGVIGGLGLAFNLNPALTMIGKYFYKRRPLANGLAMAGSPVFLCTLAPLNQVFFGIFGWRGSFLILGGLLLNCCVAGALMRPIGPKPTKAGKDKSKASLEKAGKSGVKKDLHDANTDLIGRHPKQEKRSVFQTINQFLDLTLFTHRGFLLYLSGNVIMFFGLFAPLVFLSSYGKSQHYSSEKSAFLLSILAFVDMVARPSMGLVANTKPIRPRIQYFFAASVVANGVCHMLAPLSTTYVGFCVYAGFFGFAFGWLSSVLFETLMDLVGPQRFSSAVGLVTIVECCPVLLGPPLLGRLNDMYGDYKYTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV
UniProt ID: P53985
Variant: R -> Q at position 313-313
Variant annotation: in MCT1D; complete loss of lactate transmembrane transporter activity; dbSNP:rs606231302
Effect: loss
Target: lactate transmembrane transporter activity
Protein function: Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.
Reference sequence:
MPPAVGGPVGYTPPDGGWGWAVVIGAFISIGFSYAFPKSITVFFKEIEGIFHATTSEVSWISSIMLAVMYGGGPISSILVNKYGSRIVMIVGGCLSGCGLIAASFCNTVQQLYVCIGVIGGLGLAFNLNPALTMIGKYFYKRRPLANGLAMAGSPVFLCTLAPLNQVFFGIFGWRGSFLILGGLLLNCCVAGALMRPIGPKPTKAGKDKSKASLEKAGKSGVKKDLHDANTDLIGRHPKQEKRSVFQTINQFLDLTLFTHRGFLLYLSGNVIMFFGLFAPLVFLSSYGKSQHYSSEKSAFLLSILAFVDMVARPSMGLVANTKPIRPRIQYFFAASVVANGVCHMLAPLSTTYVGFCVYAGFFGFAFGWLSSVLFETLMDLVGPQRFSSAVGLVTIVECCPVLLGPPLLGRLNDMYGDYKYTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV
UniProt ID: P53985
Variant: G -> R at position 472-472
Variant annotation: in SDLT; dbSNP:rs72552271
Protein function: Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.
Reference sequence:
MPPAVGGPVGYTPPDGGWGWAVVIGAFISIGFSYAFPKSITVFFKEIEGIFHATTSEVSWISSIMLAVMYGGGPISSILVNKYGSRIVMIVGGCLSGCGLIAASFCNTVQQLYVCIGVIGGLGLAFNLNPALTMIGKYFYKRRPLANGLAMAGSPVFLCTLAPLNQVFFGIFGWRGSFLILGGLLLNCCVAGALMRPIGPKPTKAGKDKSKASLEKAGKSGVKKDLHDANTDLIGRHPKQEKRSVFQTINQFLDLTLFTHRGFLLYLSGNVIMFFGLFAPLVFLSSYGKSQHYSSEKSAFLLSILAFVDMVARPSMGLVANTKPIRPRIQYFFAASVVANGVCHMLAPLSTTYVGFCVYAGFFGFAFGWLSSVLFETLMDLVGPQRFSSAVGLVTIVECCPVLLGPPLLGRLNDMYGDYKYTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV
UniProt ID: P53985
Variant: D -> E at position 490-490
Variant annotation: in dbSNP:rs1049434
Protein function: Proton-coupled monocarboxylate transporter. Catalyzes the rapid transport across the plasma membrane of many monocarboxylates such as lactate, pyruvate, branched-chain oxo acids derived from leucine, valine and isoleucine, and the ketone bodies acetoacetate, beta-hydroxybutyrate and acetate. Depending on the tissue and on cicumstances, mediates the import or export of lactic acid and ketone bodies. Required for normal nutrient assimilation, increase of white adipose tissue and body weight gain when on a high-fat diet. Plays a role in cellular responses to a high-fat diet by modulating the cellular levels of lactate and pyruvate, small molecules that contribute to the regulation of central metabolic pathways and insulin secretion, with concomitant effects on plasma insulin levels and blood glucose homeostasis.
Reference sequence:
MPPAVGGPVGYTPPDGGWGWAVVIGAFISIGFSYAFPKSITVFFKEIEGIFHATTSEVSWISSIMLAVMYGGGPISSILVNKYGSRIVMIVGGCLSGCGLIAASFCNTVQQLYVCIGVIGGLGLAFNLNPALTMIGKYFYKRRPLANGLAMAGSPVFLCTLAPLNQVFFGIFGWRGSFLILGGLLLNCCVAGALMRPIGPKPTKAGKDKSKASLEKAGKSGVKKDLHDANTDLIGRHPKQEKRSVFQTINQFLDLTLFTHRGFLLYLSGNVIMFFGLFAPLVFLSSYGKSQHYSSEKSAFLLSILAFVDMVARPSMGLVANTKPIRPRIQYFFAASVVANGVCHMLAPLSTTYVGFCVYAGFFGFAFGWLSSVLFETLMDLVGPQRFSSAVGLVTIVECCPVLLGPPLLGRLNDMYGDYKYTYWACGVVLIISGIYLFIGMGINYRLLAKEQKANEQKKESKEEETSIDVAGKPNEVTKAAESPDQKDTDGGPKEEESPV
UniProt ID: P54098
Variant: R -> P at position 3-3
Variant annotation: in PEOB1 and SANDO; dbSNP:rs121918045
Protein function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
Reference sequence:
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTPSNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP
UniProt ID: P54098
Variant: P -> S at position 18-18
Variant annotation: in dbSNP:rs3087373
Protein function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
Reference sequence:
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTPSNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP
UniProt ID: P54098
Variant: Q -> QQ at position 55-55
Protein function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
Reference sequence:
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTPSNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP
UniProt ID: P54098
Variant: Q -> QQQ at position 55-55
Protein function: Involved in the replication of mitochondrial DNA. Associates with mitochondrial DNA.
Reference sequence:
MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLRHNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFRLLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPTLAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIREQYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDISSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPHPVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEWDLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLPKRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDNLAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVEAEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDFLPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAILPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAVLGDAHFAGMHGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAEKAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWKGGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLFEEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLRKEVTMDCKTPSNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP