sujigwak/NVAR huggingface dataset:
UniProt ID: Q23985
Variant: Q -> QQ at position 514-514
Variant annotation: in strain: ZW122
Protein function: Regulator of Notch signaling, a signaling pathway involved in cell-cell communications that regulates a broad spectrum of cell-fate determinations. Mainly acts as a positive regulator of Notch, but it may also act as a negative regulator, depending on the developmental and cell context. Mediates the antineural activity of Notch. May function as a ubiquitin ligase protein in the Notch pathway.
Reference sequence:
MASSAGSAASGSVVPGGGGSAASSCATMALSTAGSGGPPVNHAHAVCVWEFESRGKWLPYSPAVSQHLERAHAKKLTRVMLSDADPSLEQYYVNVRTMTQESEAETAGSGLLTIGVRRMFYAPSSPAGKGTKWEWSGGSADSNNDWRPYNMHVQCIIEDAWARGEQTLDLCNTHIGLPYTINFCNLTQLRQPSGPMRSIRRTQQAPYPLVKLTPQQANQLKSNSASVSSQYNTLPKLGDTKSLHRVPMTRQQHPLPTSHQVQQQQHQHQHQQQQQQQHHHQHQQQQHQQQQQHQMQHHQIHHQTAPRKPPKKHSEISTTNLRQILNNLNIFSSSTKHQSNMSTAASASSSSSSASLHHANHLSHAHFSHAKNMLTASMNSHHSRCSEGSLQSQRSSRMGSHRSRSRTRTSDTDTNSVKSHRRRPSVDTVSTYLSHESKESLRSRNFAISVNDLLDCSLGSDEVFVPSLPPSSLGERAPVPPPLPLHPRQQQQQQQQQQQLQMQQQQQAQQQQQQSIAGSIVGVDPASDMISRFVKVVEPPLWPNAQPCPMCMEELVHSAQNPAISLSRCQHLMHLQCLNGMIIAQQNEMNKNLFIECPVCGIVYGEKVGNQPIGSMSWSIISKNLPGHEGQNTIQIVYDIASGLQTEEHPHPGRAFFAVGFPRICYLPDCPLGRKVLRFLKIAFDRRLLFSIGRSVTTGREDVVIWNSVDHKTQFNMFPDPTYLQRTMQQLVHLGVTD
UniProt ID: Q24106
Variant: P -> S at position 171-171
Variant annotation: in allele A22
Protein function: Activator of apoptosis, with grim and rpr, that acts on the effector Dredd . Seems to act genetically upstream of baculoviral anti-apoptotic p35 . Blocks Diap2 from binding and inactivating the effector caspase Drice . Might regulate apoptosis downstream of Clbn/NEMF .
Reference sequence:
MAVPFYLPEGGADDVASSSSGASGNSSPHNHPLPSSASSSVSSSGVSSASASSASSSSSASSDGASSAASQSPNTTTSSATQTPMQSPLPTDQVLYALYEWVRMYQSQQSAPQIFQYPPPSPSCNFTGGDVFFPHGHPNPNSNPHPRTPRTSVSFSSGEEYNFFRQQQPQPHPSYPAPSTPQPMPPQSAPPMHCSHSYPQQSAHMMPHHSAPFGMGGTYYAGYTPPPTPNTASAGTSSSSAAFGWHGHPHSPFTSTSTPLSAPVAPKMRLQRSQSDAARRKRLTSTGEDEREYQSDHEATWDEFGDRYDNFTAGRERLQEFNGRIPPRKKKSSNSHSSSSNNPVCHTDSQPGGTSQAESGAIHGHISQQRQVERERQKAKAEKKKPQSFTWPTVVTVFVLAMGCGFFAAR
UniProt ID: Q24106
Variant: S -> L at position 261-261
Variant annotation: in allele A206
Protein function: Activator of apoptosis, with grim and rpr, that acts on the effector Dredd . Seems to act genetically upstream of baculoviral anti-apoptotic p35 . Blocks Diap2 from binding and inactivating the effector caspase Drice . Might regulate apoptosis downstream of Clbn/NEMF .
Reference sequence:
MAVPFYLPEGGADDVASSSSGASGNSSPHNHPLPSSASSSVSSSGVSSASASSASSSSSASSDGASSAASQSPNTTTSSATQTPMQSPLPTDQVLYALYEWVRMYQSQQSAPQIFQYPPPSPSCNFTGGDVFFPHGHPNPNSNPHPRTPRTSVSFSSGEEYNFFRQQQPQPHPSYPAPSTPQPMPPQSAPPMHCSHSYPQQSAHMMPHHSAPFGMGGTYYAGYTPPPTPNTASAGTSSSSAAFGWHGHPHSPFTSTSTPLSAPVAPKMRLQRSQSDAARRKRLTSTGEDEREYQSDHEATWDEFGDRYDNFTAGRERLQEFNGRIPPRKKKSSNSHSSSSNNPVCHTDSQPGGTSQAESGAIHGHISQQRQVERERQKAKAEKKKPQSFTWPTVVTVFVLAMGCGFFAAR
UniProt ID: Q24178
Variant: R -> P at position 29-29
Variant annotation: in strain: CPA-46
Protein function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity.
Reference sequence:
MSSRYGRALTIFSPDGHLLQVEYAQEAVRKGSTAVGVRGANCVVLGVEKSSVSEMQEDRTVRKISMLDRHVALAFAGLTADARILINRGQVECQSHRLNFENQVTLEYITRYLAQLKQKYTQCNGRRPFGISCLIGGIDADGSARLFHTEPSGIFHEYKATATGRWANTVREFFEKAYSDHEVTTKCDAIKLAMRALLEVTQMSQMRLEVAVLENGKPMKMLDSVVISEIVKIVQNEKELQAKAHKMKR
UniProt ID: Q24178
Variant: N -> K at position 236-236
Variant annotation: in strain: CPA-46
Protein function: The proteasome is a multicatalytic proteinase complex which is characterized by its ability to cleave peptides with Arg, Phe, Tyr, Leu, and Glu adjacent to the leaving group at neutral or slightly basic pH. The proteasome has an ATP-dependent proteolytic activity.
Reference sequence:
MSSRYGRALTIFSPDGHLLQVEYAQEAVRKGSTAVGVRGANCVVLGVEKSSVSEMQEDRTVRKISMLDRHVALAFAGLTADARILINRGQVECQSHRLNFENQVTLEYITRYLAQLKQKYTQCNGRRPFGISCLIGGIDADGSARLFHTEPSGIFHEYKATATGRWANTVREFFEKAYSDHEVTTKCDAIKLAMRALLEVTQMSQMRLEVAVLENGKPMKMLDSVVISEIVKIVQNEKELQAKAHKMKR
UniProt ID: Q24212
Variant: T -> A at position 1186-1186
Variant annotation: in RNA edited version
Protein function: Adapter protein involved in endocytic recycling of synaptic vesicles membranes. May act by mediating the retrieval of synaptotagmin protein Syt from the plasma membrane, thereby facilitating the internalization of multiple synaptic vesicles from the plasma membrane.
Reference sequence:
MANPFLMDEDLDGCDAAANPFLMQSEPEPSSDNPFMAATVASNPFAFGADDLELGAEPEAEATHDNDLDPAMSFFGTTIEAEDDTLSLKSGAEEEDEGKKPPQSQPQLQSHAHPHPPPPRPLVPPQSTQDLISTVSSQLDETSSELLGRIPATRSPSPVSMRDLHSPSPTPDSGLADLLDVSVDSGSSAHTQGIEADLISGVAGGVRLDNPFAVPTAVPNIQAAVPLPATPIKQPPRPPPPRPAPPRPAPPGQAAPQRPPPPLAAVNPPPAAPEADDLLDMFGTTACKPAKPPPPKSKEDILSLFEQPHVPLSQPASKPDLLHDDLDETIGEGEPPEQEEPDTEQSNEISSRDEPVFTSLLIRPDESTHDITSQPQAATGLERQVNNMAAPSGTASTQRATTPDIEITTVEDLPRSDDEDEPEAMQEPETETKPQIEPDTEPEIVSEHSPPTERLVTQAALVDGELIAAEPEPEEMDTGLDFPLASSGQLSANPFASPDEEEPNFAPMPAAVANIFAVNDPDSQMETPKAPSHTANIFASDPDEFDAFSAKFDSVKKDNISIMDGFGGSGAITPTGGDAWGGSAFGSTTISANACGDTNSADDGFGNDDDDFYAMQAPARADSVESVDKDFSVVIRPMAEETSGVAPQLAPPPPPARGVNQAQTTSLPGLTVNPFEDVSGFPAPGLPPTDGTAIKRTDSQDTPQTPLYDEDVSQPLEEFPRLHYIGPGWEMQLRQPNKKKITGQRFWKKIVVRLVVQNDVPVVQLLNQAGDKQPFQELPLQPSYSVSEIGAQQYDQFGKIFTMKLQYIFYKERPGVRPGQVTKAERITNKLTKFAQYAIAGDYEGVKEFGSDLKKLGLPVEHAPQSSQLFKIGSMNYEDMKQFSVCIEEALFKIPALRERALTYKMEEVQVTAVDEITVEQDFEGKILKQIARVRLFFLAFLTGMPTIELGVNDMWRQGKEVVGRHDIIPVATEEWIRLEAVEFHSVVNQKEYERTRTIKFQPPDANYIELLRFRVRPPKNRELPLQLKATWCVSGNKVELRADILVPGFTSRKLGQIPCEDVSVRFPIPECWIYLFRVEKHFRYGSVKSAHRRTGKIKGIERILGAVDTLQESLIEVTSGQAKYEHHHRAIVWRCPRLPKEGQGAYTTHQLVCRMALTSYDQIPSELAPYAFVEFTMPATQVSHTTVRSVSVQDSDGDEPPEKYVRYLARHEYKVGIETTHGESTNAYLAATRPIREEPPTTATKPTASPVAPSDSDTDSN
UniProt ID: Q24324
Variant: S -> L at position 394-394
Variant annotation: in strain: Reids2
Protein function: Required downstream of Raf in the sevenless (sev), torso (tor), and Drosophila EGF receptor homolog (DER) signal transduction pathways. Involved in both positive regulation (at the posterior terminus) and negative regulation (at the anterior domain) of tll, as in other terminal class gene products, maybe via the ERK-A kinase.
Reference sequence:
MSKNKLNLVLPPVNTEATVAAATVAPTPPFKTPSGTDTHSLLGKPKTSIDALTETLEGLDMGDTERKRIKMFLSQKEKIGELSDEDLEKLGELGSGNGGVVMKVRHTHTHLIMARKLIHLEVKPAIKKQILRELKVLHECNFPHIVGFYGAFYSDGEISICMEYMDGGSLDLILKRAGRIPESILGRITLAVLKGLSYLRDNHAIIHRDVKPSNILVNSSGEIKICDFGVSGQLIDSMANSFVGTRSYMSPERLQGTHYSVQSDIWSLGLSLVEMAIGMYPIPPPNTATLESIFADNAEESGQPTDEPRAMAIFELLDYIVNEPPPKLEHKIFSTEFKDFVDICLKKQPDERADLKTLLSHPWIRKAELEEVDISGWVCKTMDLPPSTPKRNTSPN
UniProt ID: Q24395
Variant: A -> T at position 19-19
Variant annotation: in strain: 2CPA51
Protein function: Potent antifungal and antibacterial activity against Gram-positive bacteria.
Reference sequence:
MQLNLGAIFLALLGVMATATSVLAEPHRHQGPIFDTRPSPFNPNQPRPGPIY
UniProt ID: Q24395
Variant: H -> R at position 29-29
Variant annotation: in strain: 2CPA51
Protein function: Potent antifungal and antibacterial activity against Gram-positive bacteria.
Reference sequence:
MQLNLGAIFLALLGVMATATSVLAEPHRHQGPIFDTRPSPFNPNQPRPGPIY
UniProt ID: Q25060
Variant: I -> T at position 66-66
Variant annotation: in clone M6
Protein function: LWamide peptides may be involved in induction of metamorphosis.
Reference sequence:
MEKEMRNLMLLVLLTVILDNGIGKCNAKSEEDQDGNARNNRIDKNDDNSDSIEKYLREVTDELSKILAKRIYRDIQLRENNKKAENRQSWIGDLENLDIDSTVQRPPGLWGREADFDNTRAHDSAQISDEKQSGLWVGDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGGDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDTKPPGLWGRDAKPPGLWGRDAKPPSLWSKDNNVIKSRSDDAKPPGLWGRQVEDGPTKIWGDGFLDAERHIRLLKNDERFNRLEKKADMEEELRVAQGPSVTNAKDTFGELADLLRKRIVKRLHKNDSLNNRRNNKKNNKF
UniProt ID: Q25060
Variant: K -> N at position 414-414
Variant annotation: in clone M6
Protein function: LWamide peptides may be involved in induction of metamorphosis.
Reference sequence:
MEKEMRNLMLLVLLTVILDNGIGKCNAKSEEDQDGNARNNRIDKNDDNSDSIEKYLREVTDELSKILAKRIYRDIQLRENNKKAENRQSWIGDLENLDIDSTVQRPPGLWGREADFDNTRAHDSAQISDEKQSGLWVGDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGGDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDAKPPGLWGRDTKPPGLWGRDAKPPGLWGRDAKPPSLWSKDNNVIKSRSDDAKPPGLWGRQVEDGPTKIWGDGFLDAERHIRLLKNDERFNRLEKKADMEEELRVAQGPSVTNAKDTFGELADLLRKRIVKRLHKNDSLNNRRNNKKNNKF
UniProt ID: Q25504
Variant: K -> D at position 64-64
Protein function: Component of the cuticle of the larva of tobacco hornworm. Seems to participate in the formation of 5- to 10-fold thinner lamellae in the endocuticle.
Reference sequence:
MKLIILVALTLAAVVANEPEPPKILRSEYDQKPEGSYVFGFETEDGISRDETGEVKEALDEDNKPHSVVVVRGQYSYVDPDGNPQVIKYYADETGYHAEGDSIPKVPSRR
UniProt ID: Q26627
Variant: V -> A at position 440-440
Protein function: Receptor for the egg jelly ligands inducing the acrosome reaction. Could be a regulator of sperm ion channels.
Reference sequence:
MSVFVILILFNAILNFKTVGPAAVSSKTVDCASAPCMNGGTCADGFNNFTCFCEEGFTGSMCETEYGCFRPWFYGPAFGYCYLWERVDYNWTQARESCIDQGRGAELASIHSAEENAFVYAQIRRYAWIGLSDQVTEGVFDYADGTPVDYLSFPDKNKQSETRDCVYVKHLRVDNWSLLDCRANKTSICKSTTTFSATDGCATGWVHNPATGYCYFYEERGGMWSKGREFCLDAGADLASIHSAEENAFIFDMLTEFVWLGLNDLETEGVYTNFSDGTPADFDNFPADNYQNEDHDCVSIRHLEKTDRYWFFLGCDDTVTSICKRPHEVVATQAPPYLFTTTDVPATTTTIPTTTTTISATTRTIDAMILIELLLFPNNVSSIDNIFRVNNTILVTASVLGSFQALSSQILWSITNHLSGDSVQYTVYSEDAVLVRFTTVSIFTIKATAVGNSHNLTATANATVKHVCISSLTTSVKEHCDAPHPAVYLRAFDIHISTHMELNGKCIDPMTPDFKWRIFTSTEADDVVTAFEKITHTRQVMIPRGTLPYGIYSLNLNAKTRLKTSGEVTGEKEIISWLEIQPPPLVAVIKGGASRSHGVSSNLIVDGSNSYDPDVPPGSSSNVTFLWYCVVVDPDVMYSSLDEAIQNTDNACFEDEGIMMNSTSSMIEVIANKLNANVTMNFWLNISKEGQISGLTQQRIHLTLGLLPEIEISCISNCNMYIFTAERLVLHASCTNCDSENEDVSFRWSLESNHTSVIGDLSSQTTTGLDQPYLVLKPLTFDSISEMGSIILRVTGSQSDSDGYAEFSVDLPHNAPPALGSCVVTPDEGYALQTDFTVTCSNFTDVDEPLTYQIILFSHVDVVDWMFVGRGEGFQLYEGSAPIKDGLYLPVGVGTDDHDILLQVNVRDCNMASTSVYISATVHPPTLDAVGMNLVQELLDMALLVETNVNALLAVGDPGQAAQLISALGSILNSIGDEDDSEEGRETRSEIRSFLVDCVAAIPVESMTSLKQSSAALAVVTHNKQEISTHVQMLAASTLSEMTSFVKSKSGSYTQAQENIESAGTILVEGLSNILSAAKETERLLSDDTSQEREDHKNLIEVAVSTINDIQDAIVAGKIPSEAATIITSPALSIAVGSISRDELAEATFGGPEDLGSFRMPSQDVLNQAMEHALGTTVSMKMSAMKWNPFSWPGAGGESIKSSIVGIQLEADQMLEFHDLTADIDVYLPMRETLSADPVSVHITKTSSDSVLIDHSSLPVDGALHLTVIAENEPMVALSICTARISITESSCVGTDTPLGVSNEDPDTDANFTWTVPLVDLKAADGIMIRLYDSEDQPGYENDNITLSVFMHTLQCNFWNEDQQEWDSTGCKVGPLSKPSTTHCLCNHLTGFFGSSILVPPNHAQPVIGGHKLTGVDFLICVLIGYGIYCVALVIRVVGCSFAIRVHKVL
UniProt ID: Q26627
Variant: A -> P at position 593-593
Protein function: Receptor for the egg jelly ligands inducing the acrosome reaction. Could be a regulator of sperm ion channels.
Reference sequence:
MSVFVILILFNAILNFKTVGPAAVSSKTVDCASAPCMNGGTCADGFNNFTCFCEEGFTGSMCETEYGCFRPWFYGPAFGYCYLWERVDYNWTQARESCIDQGRGAELASIHSAEENAFVYAQIRRYAWIGLSDQVTEGVFDYADGTPVDYLSFPDKNKQSETRDCVYVKHLRVDNWSLLDCRANKTSICKSTTTFSATDGCATGWVHNPATGYCYFYEERGGMWSKGREFCLDAGADLASIHSAEENAFIFDMLTEFVWLGLNDLETEGVYTNFSDGTPADFDNFPADNYQNEDHDCVSIRHLEKTDRYWFFLGCDDTVTSICKRPHEVVATQAPPYLFTTTDVPATTTTIPTTTTTISATTRTIDAMILIELLLFPNNVSSIDNIFRVNNTILVTASVLGSFQALSSQILWSITNHLSGDSVQYTVYSEDAVLVRFTTVSIFTIKATAVGNSHNLTATANATVKHVCISSLTTSVKEHCDAPHPAVYLRAFDIHISTHMELNGKCIDPMTPDFKWRIFTSTEADDVVTAFEKITHTRQVMIPRGTLPYGIYSLNLNAKTRLKTSGEVTGEKEIISWLEIQPPPLVAVIKGGASRSHGVSSNLIVDGSNSYDPDVPPGSSSNVTFLWYCVVVDPDVMYSSLDEAIQNTDNACFEDEGIMMNSTSSMIEVIANKLNANVTMNFWLNISKEGQISGLTQQRIHLTLGLLPEIEISCISNCNMYIFTAERLVLHASCTNCDSENEDVSFRWSLESNHTSVIGDLSSQTTTGLDQPYLVLKPLTFDSISEMGSIILRVTGSQSDSDGYAEFSVDLPHNAPPALGSCVVTPDEGYALQTDFTVTCSNFTDVDEPLTYQIILFSHVDVVDWMFVGRGEGFQLYEGSAPIKDGLYLPVGVGTDDHDILLQVNVRDCNMASTSVYISATVHPPTLDAVGMNLVQELLDMALLVETNVNALLAVGDPGQAAQLISALGSILNSIGDEDDSEEGRETRSEIRSFLVDCVAAIPVESMTSLKQSSAALAVVTHNKQEISTHVQMLAASTLSEMTSFVKSKSGSYTQAQENIESAGTILVEGLSNILSAAKETERLLSDDTSQEREDHKNLIEVAVSTINDIQDAIVAGKIPSEAATIITSPALSIAVGSISRDELAEATFGGPEDLGSFRMPSQDVLNQAMEHALGTTVSMKMSAMKWNPFSWPGAGGESIKSSIVGIQLEADQMLEFHDLTADIDVYLPMRETLSADPVSVHITKTSSDSVLIDHSSLPVDGALHLTVIAENEPMVALSICTARISITESSCVGTDTPLGVSNEDPDTDANFTWTVPLVDLKAADGIMIRLYDSEDQPGYENDNITLSVFMHTLQCNFWNEDQQEWDSTGCKVGPLSKPSTTHCLCNHLTGFFGSSILVPPNHAQPVIGGHKLTGVDFLICVLIGYGIYCVALVIRVVGCSFAIRVHKVL
UniProt ID: Q26627
Variant: I -> M at position 1204-1204
Protein function: Receptor for the egg jelly ligands inducing the acrosome reaction. Could be a regulator of sperm ion channels.
Reference sequence:
MSVFVILILFNAILNFKTVGPAAVSSKTVDCASAPCMNGGTCADGFNNFTCFCEEGFTGSMCETEYGCFRPWFYGPAFGYCYLWERVDYNWTQARESCIDQGRGAELASIHSAEENAFVYAQIRRYAWIGLSDQVTEGVFDYADGTPVDYLSFPDKNKQSETRDCVYVKHLRVDNWSLLDCRANKTSICKSTTTFSATDGCATGWVHNPATGYCYFYEERGGMWSKGREFCLDAGADLASIHSAEENAFIFDMLTEFVWLGLNDLETEGVYTNFSDGTPADFDNFPADNYQNEDHDCVSIRHLEKTDRYWFFLGCDDTVTSICKRPHEVVATQAPPYLFTTTDVPATTTTIPTTTTTISATTRTIDAMILIELLLFPNNVSSIDNIFRVNNTILVTASVLGSFQALSSQILWSITNHLSGDSVQYTVYSEDAVLVRFTTVSIFTIKATAVGNSHNLTATANATVKHVCISSLTTSVKEHCDAPHPAVYLRAFDIHISTHMELNGKCIDPMTPDFKWRIFTSTEADDVVTAFEKITHTRQVMIPRGTLPYGIYSLNLNAKTRLKTSGEVTGEKEIISWLEIQPPPLVAVIKGGASRSHGVSSNLIVDGSNSYDPDVPPGSSSNVTFLWYCVVVDPDVMYSSLDEAIQNTDNACFEDEGIMMNSTSSMIEVIANKLNANVTMNFWLNISKEGQISGLTQQRIHLTLGLLPEIEISCISNCNMYIFTAERLVLHASCTNCDSENEDVSFRWSLESNHTSVIGDLSSQTTTGLDQPYLVLKPLTFDSISEMGSIILRVTGSQSDSDGYAEFSVDLPHNAPPALGSCVVTPDEGYALQTDFTVTCSNFTDVDEPLTYQIILFSHVDVVDWMFVGRGEGFQLYEGSAPIKDGLYLPVGVGTDDHDILLQVNVRDCNMASTSVYISATVHPPTLDAVGMNLVQELLDMALLVETNVNALLAVGDPGQAAQLISALGSILNSIGDEDDSEEGRETRSEIRSFLVDCVAAIPVESMTSLKQSSAALAVVTHNKQEISTHVQMLAASTLSEMTSFVKSKSGSYTQAQENIESAGTILVEGLSNILSAAKETERLLSDDTSQEREDHKNLIEVAVSTINDIQDAIVAGKIPSEAATIITSPALSIAVGSISRDELAEATFGGPEDLGSFRMPSQDVLNQAMEHALGTTVSMKMSAMKWNPFSWPGAGGESIKSSIVGIQLEADQMLEFHDLTADIDVYLPMRETLSADPVSVHITKTSSDSVLIDHSSLPVDGALHLTVIAENEPMVALSICTARISITESSCVGTDTPLGVSNEDPDTDANFTWTVPLVDLKAADGIMIRLYDSEDQPGYENDNITLSVFMHTLQCNFWNEDQQEWDSTGCKVGPLSKPSTTHCLCNHLTGFFGSSILVPPNHAQPVIGGHKLTGVDFLICVLIGYGIYCVALVIRVVGCSFAIRVHKVL
UniProt ID: Q26627
Variant: C -> S at position 1371-1371
Protein function: Receptor for the egg jelly ligands inducing the acrosome reaction. Could be a regulator of sperm ion channels.
Reference sequence:
MSVFVILILFNAILNFKTVGPAAVSSKTVDCASAPCMNGGTCADGFNNFTCFCEEGFTGSMCETEYGCFRPWFYGPAFGYCYLWERVDYNWTQARESCIDQGRGAELASIHSAEENAFVYAQIRRYAWIGLSDQVTEGVFDYADGTPVDYLSFPDKNKQSETRDCVYVKHLRVDNWSLLDCRANKTSICKSTTTFSATDGCATGWVHNPATGYCYFYEERGGMWSKGREFCLDAGADLASIHSAEENAFIFDMLTEFVWLGLNDLETEGVYTNFSDGTPADFDNFPADNYQNEDHDCVSIRHLEKTDRYWFFLGCDDTVTSICKRPHEVVATQAPPYLFTTTDVPATTTTIPTTTTTISATTRTIDAMILIELLLFPNNVSSIDNIFRVNNTILVTASVLGSFQALSSQILWSITNHLSGDSVQYTVYSEDAVLVRFTTVSIFTIKATAVGNSHNLTATANATVKHVCISSLTTSVKEHCDAPHPAVYLRAFDIHISTHMELNGKCIDPMTPDFKWRIFTSTEADDVVTAFEKITHTRQVMIPRGTLPYGIYSLNLNAKTRLKTSGEVTGEKEIISWLEIQPPPLVAVIKGGASRSHGVSSNLIVDGSNSYDPDVPPGSSSNVTFLWYCVVVDPDVMYSSLDEAIQNTDNACFEDEGIMMNSTSSMIEVIANKLNANVTMNFWLNISKEGQISGLTQQRIHLTLGLLPEIEISCISNCNMYIFTAERLVLHASCTNCDSENEDVSFRWSLESNHTSVIGDLSSQTTTGLDQPYLVLKPLTFDSISEMGSIILRVTGSQSDSDGYAEFSVDLPHNAPPALGSCVVTPDEGYALQTDFTVTCSNFTDVDEPLTYQIILFSHVDVVDWMFVGRGEGFQLYEGSAPIKDGLYLPVGVGTDDHDILLQVNVRDCNMASTSVYISATVHPPTLDAVGMNLVQELLDMALLVETNVNALLAVGDPGQAAQLISALGSILNSIGDEDDSEEGRETRSEIRSFLVDCVAAIPVESMTSLKQSSAALAVVTHNKQEISTHVQMLAASTLSEMTSFVKSKSGSYTQAQENIESAGTILVEGLSNILSAAKETERLLSDDTSQEREDHKNLIEVAVSTINDIQDAIVAGKIPSEAATIITSPALSIAVGSISRDELAEATFGGPEDLGSFRMPSQDVLNQAMEHALGTTVSMKMSAMKWNPFSWPGAGGESIKSSIVGIQLEADQMLEFHDLTADIDVYLPMRETLSADPVSVHITKTSSDSVLIDHSSLPVDGALHLTVIAENEPMVALSICTARISITESSCVGTDTPLGVSNEDPDTDANFTWTVPLVDLKAADGIMIRLYDSEDQPGYENDNITLSVFMHTLQCNFWNEDQQEWDSTGCKVGPLSKPSTTHCLCNHLTGFFGSSILVPPNHAQPVIGGHKLTGVDFLICVLIGYGIYCVALVIRVVGCSFAIRVHKVL
UniProt ID: Q26627
Variant: T -> A at position 1390-1390
Protein function: Receptor for the egg jelly ligands inducing the acrosome reaction. Could be a regulator of sperm ion channels.
Reference sequence:
MSVFVILILFNAILNFKTVGPAAVSSKTVDCASAPCMNGGTCADGFNNFTCFCEEGFTGSMCETEYGCFRPWFYGPAFGYCYLWERVDYNWTQARESCIDQGRGAELASIHSAEENAFVYAQIRRYAWIGLSDQVTEGVFDYADGTPVDYLSFPDKNKQSETRDCVYVKHLRVDNWSLLDCRANKTSICKSTTTFSATDGCATGWVHNPATGYCYFYEERGGMWSKGREFCLDAGADLASIHSAEENAFIFDMLTEFVWLGLNDLETEGVYTNFSDGTPADFDNFPADNYQNEDHDCVSIRHLEKTDRYWFFLGCDDTVTSICKRPHEVVATQAPPYLFTTTDVPATTTTIPTTTTTISATTRTIDAMILIELLLFPNNVSSIDNIFRVNNTILVTASVLGSFQALSSQILWSITNHLSGDSVQYTVYSEDAVLVRFTTVSIFTIKATAVGNSHNLTATANATVKHVCISSLTTSVKEHCDAPHPAVYLRAFDIHISTHMELNGKCIDPMTPDFKWRIFTSTEADDVVTAFEKITHTRQVMIPRGTLPYGIYSLNLNAKTRLKTSGEVTGEKEIISWLEIQPPPLVAVIKGGASRSHGVSSNLIVDGSNSYDPDVPPGSSSNVTFLWYCVVVDPDVMYSSLDEAIQNTDNACFEDEGIMMNSTSSMIEVIANKLNANVTMNFWLNISKEGQISGLTQQRIHLTLGLLPEIEISCISNCNMYIFTAERLVLHASCTNCDSENEDVSFRWSLESNHTSVIGDLSSQTTTGLDQPYLVLKPLTFDSISEMGSIILRVTGSQSDSDGYAEFSVDLPHNAPPALGSCVVTPDEGYALQTDFTVTCSNFTDVDEPLTYQIILFSHVDVVDWMFVGRGEGFQLYEGSAPIKDGLYLPVGVGTDDHDILLQVNVRDCNMASTSVYISATVHPPTLDAVGMNLVQELLDMALLVETNVNALLAVGDPGQAAQLISALGSILNSIGDEDDSEEGRETRSEIRSFLVDCVAAIPVESMTSLKQSSAALAVVTHNKQEISTHVQMLAASTLSEMTSFVKSKSGSYTQAQENIESAGTILVEGLSNILSAAKETERLLSDDTSQEREDHKNLIEVAVSTINDIQDAIVAGKIPSEAATIITSPALSIAVGSISRDELAEATFGGPEDLGSFRMPSQDVLNQAMEHALGTTVSMKMSAMKWNPFSWPGAGGESIKSSIVGIQLEADQMLEFHDLTADIDVYLPMRETLSADPVSVHITKTSSDSVLIDHSSLPVDGALHLTVIAENEPMVALSICTARISITESSCVGTDTPLGVSNEDPDTDANFTWTVPLVDLKAADGIMIRLYDSEDQPGYENDNITLSVFMHTLQCNFWNEDQQEWDSTGCKVGPLSKPSTTHCLCNHLTGFFGSSILVPPNHAQPVIGGHKLTGVDFLICVLIGYGIYCVALVIRVVGCSFAIRVHKVL
UniProt ID: Q26627
Variant: A -> V at position 1443-1443
Protein function: Receptor for the egg jelly ligands inducing the acrosome reaction. Could be a regulator of sperm ion channels.
Reference sequence:
MSVFVILILFNAILNFKTVGPAAVSSKTVDCASAPCMNGGTCADGFNNFTCFCEEGFTGSMCETEYGCFRPWFYGPAFGYCYLWERVDYNWTQARESCIDQGRGAELASIHSAEENAFVYAQIRRYAWIGLSDQVTEGVFDYADGTPVDYLSFPDKNKQSETRDCVYVKHLRVDNWSLLDCRANKTSICKSTTTFSATDGCATGWVHNPATGYCYFYEERGGMWSKGREFCLDAGADLASIHSAEENAFIFDMLTEFVWLGLNDLETEGVYTNFSDGTPADFDNFPADNYQNEDHDCVSIRHLEKTDRYWFFLGCDDTVTSICKRPHEVVATQAPPYLFTTTDVPATTTTIPTTTTTISATTRTIDAMILIELLLFPNNVSSIDNIFRVNNTILVTASVLGSFQALSSQILWSITNHLSGDSVQYTVYSEDAVLVRFTTVSIFTIKATAVGNSHNLTATANATVKHVCISSLTTSVKEHCDAPHPAVYLRAFDIHISTHMELNGKCIDPMTPDFKWRIFTSTEADDVVTAFEKITHTRQVMIPRGTLPYGIYSLNLNAKTRLKTSGEVTGEKEIISWLEIQPPPLVAVIKGGASRSHGVSSNLIVDGSNSYDPDVPPGSSSNVTFLWYCVVVDPDVMYSSLDEAIQNTDNACFEDEGIMMNSTSSMIEVIANKLNANVTMNFWLNISKEGQISGLTQQRIHLTLGLLPEIEISCISNCNMYIFTAERLVLHASCTNCDSENEDVSFRWSLESNHTSVIGDLSSQTTTGLDQPYLVLKPLTFDSISEMGSIILRVTGSQSDSDGYAEFSVDLPHNAPPALGSCVVTPDEGYALQTDFTVTCSNFTDVDEPLTYQIILFSHVDVVDWMFVGRGEGFQLYEGSAPIKDGLYLPVGVGTDDHDILLQVNVRDCNMASTSVYISATVHPPTLDAVGMNLVQELLDMALLVETNVNALLAVGDPGQAAQLISALGSILNSIGDEDDSEEGRETRSEIRSFLVDCVAAIPVESMTSLKQSSAALAVVTHNKQEISTHVQMLAASTLSEMTSFVKSKSGSYTQAQENIESAGTILVEGLSNILSAAKETERLLSDDTSQEREDHKNLIEVAVSTINDIQDAIVAGKIPSEAATIITSPALSIAVGSISRDELAEATFGGPEDLGSFRMPSQDVLNQAMEHALGTTVSMKMSAMKWNPFSWPGAGGESIKSSIVGIQLEADQMLEFHDLTADIDVYLPMRETLSADPVSVHITKTSSDSVLIDHSSLPVDGALHLTVIAENEPMVALSICTARISITESSCVGTDTPLGVSNEDPDTDANFTWTVPLVDLKAADGIMIRLYDSEDQPGYENDNITLSVFMHTLQCNFWNEDQQEWDSTGCKVGPLSKPSTTHCLCNHLTGFFGSSILVPPNHAQPVIGGHKLTGVDFLICVLIGYGIYCVALVIRVVGCSFAIRVHKVL
UniProt ID: Q26678
Variant: C -> R at position 39-39
Variant annotation: in strain: M110
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:
MGCSASKDTTNSKDGAASKGGKDGKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKRFDTNGTGKLSFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALPKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEGAAKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKQFDTNGTGKLGFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALKKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEENGANEGN
UniProt ID: Q26678
Variant: I -> P at position 80-80
Variant annotation: in strain: M110
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:
MGCSASKDTTNSKDGAASKGGKDGKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKRFDTNGTGKLSFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALPKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEGAAKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKQFDTNGTGKLGFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALKKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEENGANEGN
UniProt ID: Q26678
Variant: E -> G at position 85-85
Variant annotation: in strain: M110
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:
MGCSASKDTTNSKDGAASKGGKDGKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKRFDTNGTGKLSFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALPKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEGAAKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKQFDTNGTGKLGFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALKKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEENGANEGN
UniProt ID: Q26678
Variant: C -> V at position 228-228
Variant annotation: in strain: M110
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:
MGCSASKDTTNSKDGAASKGGKDGKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKRFDTNGTGKLSFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALPKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEGAAKTTADRKVAWERIRCAIPRDKDAESKSRRIELFKQFDTNGTGKLGFREVLDGCYSILKLDEFTTHLPDIVQRAFDKAKDLGNKVKGVGEEDLVEFLEFRLMLCYIYDIFELTVMFDTMDKDGSLLLELQEFKEALKKWKEWGVDITDATTVFNEIDTNGSGVVTFDEFSCWAVTKKLQVCGDPDGEENGANEGN
UniProt ID: Q26789
Variant: DV -> EL at position 145-146
Variant annotation: in PFRD
Protein function: Major component of the paraflagellar rod (PFR). The PFR is a highly ordered lattices of fibrous proteins that are located inside the flagellum and assume a fixed orientation with respect to the microtubular axoneme.
Reference sequence:
MAAVDDATGLEAARKQKIHNLKLKTACLENEELVQELHVSDWSETQRQKLRGAHLKAEELVAAVDVGTKWNLTEVYDLAKLMRVCGLEMSQRELYRPEDKAQFMDIIAMKKVLQDLRQNRNKTRVVSFTQMIDNAIAKVEKVEEDVRRSQLDATQLAQVPTQTLKQVEDIMNVTQIQNALASTDDQIKTQLAHVEKTNEIQNVAMHDGEMQVAEEQMWTKVQLQERLIDLIQDKFRLISKCEEENQAFSKIHEVQKQANQETSQMKDAKRRLKQRCETDLKHIHDAIQKADLEDAEATKRHAANKEKSDRYIRENEDRQEETWNKIQDLERQLQKLGTERFDEVKRRIEEIDREEKRRVEYSQFLEVASQHKKLLELTVYNCDLAIRCTGLVEELVSEGCAAVKARHDKTSQDLAALRLDVHKEHLEYFRMLYLTLGSLIYKKEKRMEEIDRNIRTTHIQLEFCVETFDPNAKKHADMKKELYRLRQGVEEELAMLKEKQAKALEEFKESEEVSGRCWHRVQPPCDENNEEVLTRRSKMVEYRSHLTKQEEVKIAAEREEIKRALTAQLWCRWRAGPHRKQHCTHASNSVAAIIM
UniProt ID: Q27049
Variant: I -> L at position 26-26
Variant annotation: in clones TR12, TR28 and TR45
Protein function: Thrombin inhibitor, forms a non-covalent complex with thrombin at a molar ratio of 1:1, inhibits thrombin-induced platelet aggregation, and prolongs thrombin clotting time and activated partial thromboplastin time. It only minimally suppresses the amidolytic activity of thrombin.
Reference sequence:
MKTIIAVTIFGILTCAYAAEGDDCSIEKAMGDFKPEEFFNGTWYLAHGPGVTSPAVCQKFTTSGSKGFTQIVEIGYNKFESNVKFQCNQVDNKNGEQYSFKCKSSDNTEFEADFTFISVSYDNFALVCRSITFTSQPKEDDYLVLERTKSDTDPDAKEIC
UniProt ID: Q27049
Variant: G -> D at position 50-50
Variant annotation: in clones TR28 and TR45
Protein function: Thrombin inhibitor, forms a non-covalent complex with thrombin at a molar ratio of 1:1, inhibits thrombin-induced platelet aggregation, and prolongs thrombin clotting time and activated partial thromboplastin time. It only minimally suppresses the amidolytic activity of thrombin.
Reference sequence:
MKTIIAVTIFGILTCAYAAEGDDCSIEKAMGDFKPEEFFNGTWYLAHGPGVTSPAVCQKFTTSGSKGFTQIVEIGYNKFESNVKFQCNQVDNKNGEQYSFKCKSSDNTEFEADFTFISVSYDNFALVCRSITFTSQPKEDDYLVLERTKSDTDPDAKEIC
UniProt ID: Q27049
Variant: VDNKNG -> ADKKND at position 90-95
Variant annotation: in clone TR45
Protein function: Thrombin inhibitor, forms a non-covalent complex with thrombin at a molar ratio of 1:1, inhibits thrombin-induced platelet aggregation, and prolongs thrombin clotting time and activated partial thromboplastin time. It only minimally suppresses the amidolytic activity of thrombin.
Reference sequence:
MKTIIAVTIFGILTCAYAAEGDDCSIEKAMGDFKPEEFFNGTWYLAHGPGVTSPAVCQKFTTSGSKGFTQIVEIGYNKFESNVKFQCNQVDNKNGEQYSFKCKSSDNTEFEADFTFISVSYDNFALVCRSITFTSQPKEDDYLVLERTKSDTDPDAKEIC