sujigwak/NVAR huggingface dataset:
UniProt ID: P07661
Variant: V -> A at position 427-427
Variant annotation: in transposon Tn3411
Protein function: Uptake of citrate across the boundary membrane with the concomitant transport of protons into the cell (symport system).
Reference sequence:
MTQQPSRAGTFGAILRVTSGNFLEQFDFFLFGFYATYIAKTFFPAESEFAALMLTFAVFGSGFLMRPIGAVVLGAYIDRIGRRKGLMITLAIMGCGTLLIALVPGYQTIGLLAPVLVLVGRLLQGFSAGVELGGVSVYLSEIATPGNKGFYTSWQSASQQVAIVVAALIGYGLNVTLGHDEISEWGWRIPFFIGCMIIPLIFVLRRSLQETEAFLQRKHRPDTREIFTTIAKNWRIITAGTLLVAMTTTTFYFITVYTPTYGRTVLNLSARDSLVVTMLVGISNFIWLPIGGAISDRIGRRPVLMGITLLALVTTLPVMNWLTAAPDFTRMTLVLLWFSFFFGMYNGAMVAALTEVMPVYVRTVGFSLAFSLATAIFGGLTPAISTALVQLTGDKSSPGWWLMCAALCGLAATTMLFARLSSGYQTVENKL
UniProt ID: P07713
Variant: V -> G at position 59-59
Variant annotation: in strain: dp cn bw
Protein function: Required during oogenesis for eggshell patterning and dorsal/ventral patterning of the embryo. Acts as a morphogen during embryogenesis to pattern the dorsal/ventral axis, specifying dorsal ectoderm and amnioserosa cell fate within the dorsal half of the embryo; this activity is antagonized by binding to sog and tsg. Induces the formation of visceral mesoderm and the heart in early embryos. Required later in embryogenesis for dorsal closure and patterning of the hindgut. Also functions postembryonically as a long-range morphogen during imaginal disk development; is responsible for the progression of the morphogenetic furrow during eye development. Patterns the wing imaginal disk along its anterior/posterior axis and has a role in positioning pro-veins. Also required to subdivide the wing disk along the proximal/distal axis into body wall (notum) and wing. Ensures the correct architecture of wing epithelial cells. Has multiple roles in the developing tracheal system, controlling directed tracheal cell migration during embryogenesis and later specifying the fate of fusion cells in the tracheal branches. Required for viability of larvae. Essential for the maintenance and division of germline stem cells in the ovary. Signals via the type I receptor tkv, the type II receptor punt, and in some tissues via the type I receptor sax, in a signaling cascade that leads to activation and repression of target genes.
Reference sequence:
MRAWLLLLAVLATFQTIVRVASTEDISQRFIAAIAPVAAHIPLASASGSGSGRSGSRSVGASTSTALAKAFNPFSEPASFSDSDKSHRSKTNKKPSKSDANRQFNEVHKPRTDQLENSKNKSKQLVNKPNHNKMAVKEQRSHHKKSHHHRSHQPKQASASTESHQSSSIESIFVEEPTLVLDREVASINVPANAKAIIAEQGPSTYSKEALIKDKLKPDPSTLVEIEKSLLSLFNMKRPPKIDRSKIIIPEPMKKLYAEIMGHELDSVNIPKPGLLTKSANTVRSFTHKDSKIDDRFPHHHRFRLHFDVKSIPADEKLKAAELQLTRDALSQQVVASRSSANRTRYQVLVYDITRVGVRGQREPSYLLLDTKTVRLNSTDTVSLDVQPAVDRWLASPQRNYGLLVEVRTVRSLKPAPHHHVRLRRSADEAHERWQHKQPLLFTYTDDGRHKARSIRDVSGGEGGGKGGRNKRQPRRPTRRKNHDDTCRRHSLYVDFSDVGWDDWIVAPLGYDAYYCHGKCPFPLADHFNSTNHAVVQTLVNNMNPGKVPKACCVPTQLDSVAMLYLNDQSTVVLKNYQEMTVVGCGCR
UniProt ID: P07713
Variant: K -> M at position 121-121
Variant annotation: in strain: dp cn bw
Protein function: Required during oogenesis for eggshell patterning and dorsal/ventral patterning of the embryo. Acts as a morphogen during embryogenesis to pattern the dorsal/ventral axis, specifying dorsal ectoderm and amnioserosa cell fate within the dorsal half of the embryo; this activity is antagonized by binding to sog and tsg. Induces the formation of visceral mesoderm and the heart in early embryos. Required later in embryogenesis for dorsal closure and patterning of the hindgut. Also functions postembryonically as a long-range morphogen during imaginal disk development; is responsible for the progression of the morphogenetic furrow during eye development. Patterns the wing imaginal disk along its anterior/posterior axis and has a role in positioning pro-veins. Also required to subdivide the wing disk along the proximal/distal axis into body wall (notum) and wing. Ensures the correct architecture of wing epithelial cells. Has multiple roles in the developing tracheal system, controlling directed tracheal cell migration during embryogenesis and later specifying the fate of fusion cells in the tracheal branches. Required for viability of larvae. Essential for the maintenance and division of germline stem cells in the ovary. Signals via the type I receptor tkv, the type II receptor punt, and in some tissues via the type I receptor sax, in a signaling cascade that leads to activation and repression of target genes.
Reference sequence:
MRAWLLLLAVLATFQTIVRVASTEDISQRFIAAIAPVAAHIPLASASGSGSGRSGSRSVGASTSTALAKAFNPFSEPASFSDSDKSHRSKTNKKPSKSDANRQFNEVHKPRTDQLENSKNKSKQLVNKPNHNKMAVKEQRSHHKKSHHHRSHQPKQASASTESHQSSSIESIFVEEPTLVLDREVASINVPANAKAIIAEQGPSTYSKEALIKDKLKPDPSTLVEIEKSLLSLFNMKRPPKIDRSKIIIPEPMKKLYAEIMGHELDSVNIPKPGLLTKSANTVRSFTHKDSKIDDRFPHHHRFRLHFDVKSIPADEKLKAAELQLTRDALSQQVVASRSSANRTRYQVLVYDITRVGVRGQREPSYLLLDTKTVRLNSTDTVSLDVQPAVDRWLASPQRNYGLLVEVRTVRSLKPAPHHHVRLRRSADEAHERWQHKQPLLFTYTDDGRHKARSIRDVSGGEGGGKGGRNKRQPRRPTRRKNHDDTCRRHSLYVDFSDVGWDDWIVAPLGYDAYYCHGKCPFPLADHFNSTNHAVVQTLVNNMNPGKVPKACCVPTQLDSVAMLYLNDQSTVVLKNYQEMTVVGCGCR
UniProt ID: P07713
Variant: P -> A at position 439-439
Protein function: Required during oogenesis for eggshell patterning and dorsal/ventral patterning of the embryo. Acts as a morphogen during embryogenesis to pattern the dorsal/ventral axis, specifying dorsal ectoderm and amnioserosa cell fate within the dorsal half of the embryo; this activity is antagonized by binding to sog and tsg. Induces the formation of visceral mesoderm and the heart in early embryos. Required later in embryogenesis for dorsal closure and patterning of the hindgut. Also functions postembryonically as a long-range morphogen during imaginal disk development; is responsible for the progression of the morphogenetic furrow during eye development. Patterns the wing imaginal disk along its anterior/posterior axis and has a role in positioning pro-veins. Also required to subdivide the wing disk along the proximal/distal axis into body wall (notum) and wing. Ensures the correct architecture of wing epithelial cells. Has multiple roles in the developing tracheal system, controlling directed tracheal cell migration during embryogenesis and later specifying the fate of fusion cells in the tracheal branches. Required for viability of larvae. Essential for the maintenance and division of germline stem cells in the ovary. Signals via the type I receptor tkv, the type II receptor punt, and in some tissues via the type I receptor sax, in a signaling cascade that leads to activation and repression of target genes.
Reference sequence:
MRAWLLLLAVLATFQTIVRVASTEDISQRFIAAIAPVAAHIPLASASGSGSGRSGSRSVGASTSTALAKAFNPFSEPASFSDSDKSHRSKTNKKPSKSDANRQFNEVHKPRTDQLENSKNKSKQLVNKPNHNKMAVKEQRSHHKKSHHHRSHQPKQASASTESHQSSSIESIFVEEPTLVLDREVASINVPANAKAIIAEQGPSTYSKEALIKDKLKPDPSTLVEIEKSLLSLFNMKRPPKIDRSKIIIPEPMKKLYAEIMGHELDSVNIPKPGLLTKSANTVRSFTHKDSKIDDRFPHHHRFRLHFDVKSIPADEKLKAAELQLTRDALSQQVVASRSSANRTRYQVLVYDITRVGVRGQREPSYLLLDTKTVRLNSTDTVSLDVQPAVDRWLASPQRNYGLLVEVRTVRSLKPAPHHHVRLRRSADEAHERWQHKQPLLFTYTDDGRHKARSIRDVSGGEGGGKGGRNKRQPRRPTRRKNHDDTCRRHSLYVDFSDVGWDDWIVAPLGYDAYYCHGKCPFPLADHFNSTNHAVVQTLVNNMNPGKVPKACCVPTQLDSVAMLYLNDQSTVVLKNYQEMTVVGCGCR
UniProt ID: P07730
Variant: N -> I at position 320-320
Protein function: Seed storage protein.
Reference sequence:
MASINRPIVFFTVCLFLLCDGSLAQQLLGQSTSQWQSSRRGSPRGCRFDRLQAFEPIRSVRSQAGTTEFFDVSNELFQCTGVSVVRRVIEPRGLLLPHYTNGASLVYIIQGRGITGPTFPGCPETYQQQFQQSGQAQLTESQSQSHKFKDEHQKIHRFRQGDVIALPAGVAHWCYNDGEVPVVAIYVTDINNGANQLDPRQRDFLLAGNKRNPQAYRREVEEWSQNIFSGFSTELLSEAFGISNQVARQLQCQNDQRGEIVRVERGLSLLQPYASLQEQEQGQMQSREHYQEGGYQQSQYGSGCPNGLDETFCTMRVRQNIDNPNRADTYNPRAGRVTNLNSQNFPILNLVQMSAVKVNLYQNALLSPFWNINAHSIVYITQGRAQVQVVNNNGKTVFNGELRRGQLLIVPQHYVVVKKAQREGCAYIAFKTNPNSMVSHIAGKSSIFRALPTDVLANAYRISREEAQRLKHNRGDEFGAFTPLQYKSYQDVYNVAESS
UniProt ID: P07730
Variant: S -> T at position 342-342
Protein function: Seed storage protein.
Reference sequence:
MASINRPIVFFTVCLFLLCDGSLAQQLLGQSTSQWQSSRRGSPRGCRFDRLQAFEPIRSVRSQAGTTEFFDVSNELFQCTGVSVVRRVIEPRGLLLPHYTNGASLVYIIQGRGITGPTFPGCPETYQQQFQQSGQAQLTESQSQSHKFKDEHQKIHRFRQGDVIALPAGVAHWCYNDGEVPVVAIYVTDINNGANQLDPRQRDFLLAGNKRNPQAYRREVEEWSQNIFSGFSTELLSEAFGISNQVARQLQCQNDQRGEIVRVERGLSLLQPYASLQEQEQGQMQSREHYQEGGYQQSQYGSGCPNGLDETFCTMRVRQNIDNPNRADTYNPRAGRVTNLNSQNFPILNLVQMSAVKVNLYQNALLSPFWNINAHSIVYITQGRAQVQVVNNNGKTVFNGELRRGQLLIVPQHYVVVKKAQREGCAYIAFKTNPNSMVSHIAGKSSIFRALPTDVLANAYRISREEAQRLKHNRGDEFGAFTPLQYKSYQDVYNVAESS
UniProt ID: P07730
Variant: D -> A at position 454-454
Protein function: Seed storage protein.
Reference sequence:
MASINRPIVFFTVCLFLLCDGSLAQQLLGQSTSQWQSSRRGSPRGCRFDRLQAFEPIRSVRSQAGTTEFFDVSNELFQCTGVSVVRRVIEPRGLLLPHYTNGASLVYIIQGRGITGPTFPGCPETYQQQFQQSGQAQLTESQSQSHKFKDEHQKIHRFRQGDVIALPAGVAHWCYNDGEVPVVAIYVTDINNGANQLDPRQRDFLLAGNKRNPQAYRREVEEWSQNIFSGFSTELLSEAFGISNQVARQLQCQNDQRGEIVRVERGLSLLQPYASLQEQEQGQMQSREHYQEGGYQQSQYGSGCPNGLDETFCTMRVRQNIDNPNRADTYNPRAGRVTNLNSQNFPILNLVQMSAVKVNLYQNALLSPFWNINAHSIVYITQGRAQVQVVNNNGKTVFNGELRRGQLLIVPQHYVVVKKAQREGCAYIAFKTNPNSMVSHIAGKSSIFRALPTDVLANAYRISREEAQRLKHNRGDEFGAFTPLQYKSYQDVYNVAESS
UniProt ID: P07737
Variant: C -> G at position 71-71
Variant annotation: in ALS18; the mutant protein is detected in the insoluble fraction of cells; dbSNP:rs387907264
Protein function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.
Reference sequence:
MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNITPAEVGVLVGKDRSSFYVNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVTVTKTDKTLVLLMGKEGVHGGLINKKCYEMASHLRRSQY
UniProt ID: P07737
Variant: M -> T at position 114-114
Variant annotation: in ALS18; the mutant protein is detected in the insoluble fraction of cells; dbSNP:rs387907265
Protein function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.
Reference sequence:
MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNITPAEVGVLVGKDRSSFYVNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVTVTKTDKTLVLLMGKEGVHGGLINKKCYEMASHLRRSQY
UniProt ID: P07737
Variant: E -> G at position 117-117
Variant annotation: in ALS18; uncertain significance; like the wild-type the mutant protein is detected in the soluble fraction of cells; dbSNP:rs140547520
Protein function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.
Reference sequence:
MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNITPAEVGVLVGKDRSSFYVNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVTVTKTDKTLVLLMGKEGVHGGLINKKCYEMASHLRRSQY
UniProt ID: P07737
Variant: G -> V at position 118-118
Variant annotation: in ALS18; the mutant protein is detected in the insoluble fraction of cells; dbSNP:rs387907266
Protein function: Binds to actin and affects the structure of the cytoskeleton. At high concentrations, profilin prevents the polymerization of actin, whereas it enhances it at low concentrations. By binding to PIP2, it inhibits the formation of IP3 and DG. Inhibits androgen receptor (AR) and HTT aggregation and binding of G-actin is essential for its inhibition of AR.
Reference sequence:
MAGWNAYIDNLMADGTCQDAAIVGYKDSPSVWAAVPGKTFVNITPAEVGVLVGKDRSSFYVNGLTLGGQKCSVIRDSLLQDGEFSMDLRTKSTGGAPTFNVTVTKTDKTLVLLMGKEGVHGGLINKKCYEMASHLRRSQY
UniProt ID: P07738
Variant: R -> Q at position 62-62
Variant annotation: in ECYT8; dbSNP:rs751972865
Protein function: Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.
Reference sequence:
MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVLNRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNREQMALNHGEEQVRLWRRSYNVTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKDVLERLLPYWNERIAPEVLRGKTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPILLELDENLRAVGPHQFLGDQEAIQAAIKKVEDQGKVKQAKK
UniProt ID: P07738
Variant: R -> C at position 90-90
Variant annotation: in ECYT8; mutation identified at protein level; marked decrease in synthase and mutase activities; no effect on phosphatase activity; dbSNP:rs121964925
Protein function: Plays a major role in regulating hemoglobin oxygen affinity by controlling the levels of its allosteric effector 2,3-bisphosphoglycerate (2,3-BPG). Also exhibits mutase (EC 5.4.2.11) activity.
Reference sequence:
MSKYKLIMLRHGEGAWNKENRFCSWVDQKLNSEGMEEARNCGKQLKALNFEFDLVFTSVLNRSIHTAWLILEELGQEWVPVESSWRLNERHYGALIGLNREQMALNHGEEQVRLWRRSYNVTPPPIEESHPYYQEIYNDRRYKVCDVPLDQLPRSESLKDVLERLLPYWNERIAPEVLRGKTILISAHGNSSRALLKHLEGISDEDIINITLPTGVPILLELDENLRAVGPHQFLGDQEAIQAAIKKVEDQGKVKQAKK
UniProt ID: P07741
Variant: L -> P at position 33-33
Variant annotation: in APRTD; dbSNP:rs1909145695
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: D -> V at position 65-65
Variant annotation: in APRTD; Icelandic type; dbSNP:rs104894506
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: V -> M at position 84-84
Variant annotation: in APRTD; dbSNP:rs200392753
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: L -> P at position 110-110
Variant annotation: in APRTD; Newfoundland type; dbSNP:rs104894508
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: Q -> R at position 121-121
Variant annotation: in dbSNP:rs8191494
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: G -> D at position 133-133
Variant annotation: in APRTD; dbSNP:rs1909055807
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: M -> T at position 136-136
Variant annotation: in APRTD; Japanese type; allele APRT*J; most common mutation; dbSNP:rs28999113
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: V -> F at position 150-150
Variant annotation: in APRTD; dbSNP:rs281860266
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07741
Variant: C -> R at position 153-153
Variant annotation: in APRTD; dbSNP:rs764321075
Protein function: Catalyzes a salvage reaction resulting in the formation of AMP, that is energically less costly than de novo synthesis.
Reference sequence:
MADSELQLVEQRIRSFPDFPTPGVVFRDISPVLKDPASFRAAIGLLARHLKATHGGRIDYIAGLDSRGFLFGPSLAQELGLGCVLIRKRGKLPGPTLWASYSLEYGKAELEIQKDALEPGQRVVVVDDLLATGGTMNAACELLGRLQAEVLECVSLVELTSLKGREKLAPVPFFSLLQYE
UniProt ID: P07749
Variant: K -> N at position 23-23
Variant annotation: in strain: Miranda, PBOL and DM28C
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: R -> P at position 33-33
Variant annotation: in strain: DM28C
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: H -> Y at position 71-71
Variant annotation: in strain: Miranda, PBOL and DM28C
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: K -> R at position 79-79
Variant annotation: in strain: DM28C
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: P -> S at position 85-85
Variant annotation: in strain: PBOL and DM28C
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: R -> G at position 86-86
Variant annotation: in strain: DM28C
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: A -> S at position 98-98
Variant annotation: in strain: PBOL
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: A -> T at position 100-100
Variant annotation: in strain: PBOL
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: A -> V at position 100-100
Variant annotation: in strain: Miranda
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: L -> F at position 152-152
Variant annotation: in strain: Miranda, DM28C and PBOL
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA
UniProt ID: P07749
Variant: S -> K at position 210-210
Variant annotation: in strain: Miranda
Protein function: May contribute to the rapid motility of the trypanosomes, playing a role either in flagellar structure or in calcium metabolism. Could alternate between a GDP-bound inactive form to a calcium/GTP-bound active form.
Reference sequence:
MGACGSKGSTSDKGLASDKDGKKAKDRKEAWERIRQAIPREKTAEAKQRRIELFKKFDKNETGKLCYDEVHSGCLEVLKLDEFTPRVRDITKRAFDKARALGSKLENKGSEDFVEFLEFRLMLCYIYDFFELTVMFDEIDASGNMLVDEEELKRAVPKLEAWGAKVEDPAALFKELDKNGTGSVTFDEFAAWASAVKLDADGDPDNVPESA