sujigwak/NVAR huggingface dataset:
UniProt ID: P82683
Variant: Q -> L at position 430-430
Protein function: The A chain is responsible for inhibiting protein synthesis through the catalytic inactivation of 60S ribosomal subunits by removing adenine from position 4,324 of 28S rRNA. The B chain binds to cell receptors and probably facilitates the entry into the cell of the A chain; B chains are also responsible for cell agglutination (lectin activity). Inhibits growth of the human tumor cell line Molt4.
Reference sequence:
MNAVMDSRGAWVSCFLILGLVFGATVKAETKFSYERLRLRVTHQTTGDEYFRFITLLRDYVSSGSFSNEIPLLRQSTIPVSDAQRFVLVELTNQGGDSITAAIDVTNLYVVAYQAGDQSYFLRDAPDGAERHLFTGTTRSSLPFTGSYTDLERYAGHRDQIPLGIEELIQSVSALRYPGGSTRAQARSIIILIQMISEAARFNPIFWRVRQDINSGESFLPDMYMLELETSWGQQSTQVQQSTDGVFNNPFRLAISTGNFVTLSNVRDVIASLAIMLFVCRDRPSSSEVRYWPLVIRPVLENSGAVDDVTCTASEPTVRIVGRDGLCVDVRDGKFHNGNPIQLSPCKSNTDPNQLWTIRRDGTIRSNGRCLTTYGYTAGVYVMIFDCNTAVREATLWQIWGNGTIINPRSNLVLGAASGSSGTTLTVQTQVYSLGQGWLAGNDTAPREVTIYGFRDLCMEANGASVWVETCGSSTENQNWALYGDGSIRPKQNQDQCLTCQGDSVATVINIVSCSAGSSGQRWVFTNEGTILNLNNGLVMDVAQSNPSLRRIIIYPATGNPNQMWLPVP
UniProt ID: P82683
Variant: P -> F at position 569-569
Protein function: The A chain is responsible for inhibiting protein synthesis through the catalytic inactivation of 60S ribosomal subunits by removing adenine from position 4,324 of 28S rRNA. The B chain binds to cell receptors and probably facilitates the entry into the cell of the A chain; B chains are also responsible for cell agglutination (lectin activity). Inhibits growth of the human tumor cell line Molt4.
Reference sequence:
MNAVMDSRGAWVSCFLILGLVFGATVKAETKFSYERLRLRVTHQTTGDEYFRFITLLRDYVSSGSFSNEIPLLRQSTIPVSDAQRFVLVELTNQGGDSITAAIDVTNLYVVAYQAGDQSYFLRDAPDGAERHLFTGTTRSSLPFTGSYTDLERYAGHRDQIPLGIEELIQSVSALRYPGGSTRAQARSIIILIQMISEAARFNPIFWRVRQDINSGESFLPDMYMLELETSWGQQSTQVQQSTDGVFNNPFRLAISTGNFVTLSNVRDVIASLAIMLFVCRDRPSSSEVRYWPLVIRPVLENSGAVDDVTCTASEPTVRIVGRDGLCVDVRDGKFHNGNPIQLSPCKSNTDPNQLWTIRRDGTIRSNGRCLTTYGYTAGVYVMIFDCNTAVREATLWQIWGNGTIINPRSNLVLGAASGSSGTTLTVQTQVYSLGQGWLAGNDTAPREVTIYGFRDLCMEANGASVWVETCGSSTENQNWALYGDGSIRPKQNQDQCLTCQGDSVATVINIVSCSAGSSGQRWVFTNEGTILNLNNGLVMDVAQSNPSLRRIIIYPATGNPNQMWLPVP
UniProt ID: P82930
Variant: E -> K at position 13-13
Variant annotation: in COXPD32; significant decrease in protein levels; destabilizes the small ribosomal subunit resulting in impaired mitochondrial translation; dbSNP:rs1131692037
Protein function: Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation.
Reference sequence:
MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRRESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYTAQNLDHGKAWGILTFKGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQKNGDTSTEEPMLNVQRIRMEPWDYPAKQEDKGRAKGTPV
UniProt ID: P82930
Variant: L -> I at position 33-33
Variant annotation: in dbSNP:rs11552431
Protein function: Required for mitochondrial translation, plays a role in maintaining the stability of the small ribosomal subunit and the 12S rRNA that are required for mitoribosome formation.
Reference sequence:
MARKKVRPRLIAELARRVRALREQLNRPRDSQLYAVDYETLTRPFSGRRLPVRAWADVRRESRLLQLLGRLPLFGLGRLVTRKSWLWQHDEPCYWRLTRVRPDYTAQNLDHGKAWGILTFKGKTESEAREIEHVMYHDWRLVPKHEEEAFTAFTPAPEDSLASVPYPPLLRAMIIAERQKNGDTSTEEPMLNVQRIRMEPWDYPAKQEDKGRAKGTPV
UniProt ID: P82959
Variant: I -> Q at position 58-58
Protein function: Lethal neurotoxin that blocks neuromuscular transmission. Acts cooperatively to potentiate the activity of huwentoxin-I. This toxin is active against insects.
Reference sequence:
MKVTLIAILTCAAVLVLHTTAAEELEAESQLMEVGMPDTELAAVDEERLFECSFSCEIEKEGDKPCKKKKCKGGWKCKFNMCVKV
UniProt ID: P82968
Variant: M -> V at position 195-195
Protein function: Inhibits trypsin, kallikrein, subtilisin Carlsberg, human leukocyte elastase, porcine pancreatic elastase and chymotrypsin. Two domains are for the inhibition of chymotrypsin.
Reference sequence:
CDLACSLIYAPVCGSDGKTYPSECSMEATACIDEVVITKVHDGPCETKCSAACTKEYNPQCGTDGVTYANPCTLEYAKCKSDGEITFDHAGPCKPKCPTVCTLEYNPQCGTDGRTYGNPCQLKVAECESDGRITLDHPGECDACSLKKVVGPCRGAFRRYYFDSVSGKCEEFVYGGCGGNDNNFKTLDACQKRCMEE
UniProt ID: P82980
Variant: D -> N at position 19-19
Variant annotation: in dbSNP:rs10963
Protein function: Intracellular transport of retinol.
Reference sequence:
MPPNLTGYYRFVSQKNMEDYLQALNISLAVRKIALLLKPDKEIEHQGNHMTVRTLSTFRNYTVQFDVGVEFEEDLRSVDGRKCQTIVTWEEEHLVCVQKGEVPNRGWRHWLEGEMLYLELTARDAVCEQVFRKVR
UniProt ID: P82980
Variant: E -> Q at position 70-70
Variant annotation: in dbSNP:rs7969705
Protein function: Intracellular transport of retinol.
Reference sequence:
MPPNLTGYYRFVSQKNMEDYLQALNISLAVRKIALLLKPDKEIEHQGNHMTVRTLSTFRNYTVQFDVGVEFEEDLRSVDGRKCQTIVTWEEEHLVCVQKGEVPNRGWRHWLEGEMLYLELTARDAVCEQVFRKVR
UniProt ID: P82980
Variant: M -> L at position 115-115
Variant annotation: in dbSNP:rs2290237
Protein function: Intracellular transport of retinol.
Reference sequence:
MPPNLTGYYRFVSQKNMEDYLQALNISLAVRKIALLLKPDKEIEHQGNHMTVRTLSTFRNYTVQFDVGVEFEEDLRSVDGRKCQTIVTWEEEHLVCVQKGEVPNRGWRHWLEGEMLYLELTARDAVCEQVFRKVR
UniProt ID: P82981
Variant: P -> D at position 234-234
Protein function: Thrombin-like snake venom serine protease that cleaves beta chain of fibrinogen (FGB), releasing fibrinopeptide B. Has a coagulant activity activating blood coagulation factors V (F5) and XIII (F13A1).
Reference sequence:
VVGGDECNINEHRFLVAIFNSNGFVCSGTLINQEWVLTAAHCDSTDFQIKLGAHSKKVLNEDEQIRNPKEKFICPNKKNDEVLDKDIMLIKLDSRVSNSEHIAPLSLPSSPPSVGSVCHIMGWGSITPIEVTFPDVPHCAYINLLDDAACQPGYPEVLPEYRTLCAGILEGGKDTCNYDSGGPLICNGQFQGIVSYGAHPCGQSLKPGIYTKVFDYNDWIQSIIAGNTAATCPP
UniProt ID: P82993
Variant: E -> D at position 165-165
Protein function: Catalyzes the liberation of maltose from 1,4-alpha-D glucans.
Reference sequence:
MEVNVKGNYVQVYVMLPLDAVSVNNRFEKGDELRAQLRKLVEAGVDGVMVDVWWGLVEGKGPKAYDWSAYKQLFELVQKAGLKLQAIMSFHQCGGNVGDAVNIPIPQWVRDVGTRDPDIFYTDGHGTRNIEYLTLGVDNQPLFHGRSAVQMYADYMTSFRENMKEFLDAGVIVDIEVGLGPAGEMRYPSYPQSHGWSFPGIGEFICYDKYLQADFKAAAAAVGHPEWEFPNDAGQYNDTPERTQFFRDNGTYLTEKGRFFLAWYSNNLIKHGDRILDEANKVFLGYKVQLAIKISGIHWWYKVPSHAAELTAGYYNLHDRDGYRTIARMLKRHRASINFTCAEMRDSEQSSQAMSAPEELVQQVLSAGWREGLNVACENALPRYDPTAYNTILRNARPHGINQSGPPEHKLFGFTYLRLSNQLVEGQNYVNFKTFVDRMHANLPRDPYVDPMAPLPRSGPEISIEMILQAAKPKLQPFPFQEHTDLPVGPTGGMGGQAEGPTCGMGGQVKGPTGGMGGQAEDPTSGMGGELPATM
UniProt ID: P82993
Variant: T -> S at position 254-254
Protein function: Catalyzes the liberation of maltose from 1,4-alpha-D glucans.
Reference sequence:
MEVNVKGNYVQVYVMLPLDAVSVNNRFEKGDELRAQLRKLVEAGVDGVMVDVWWGLVEGKGPKAYDWSAYKQLFELVQKAGLKLQAIMSFHQCGGNVGDAVNIPIPQWVRDVGTRDPDIFYTDGHGTRNIEYLTLGVDNQPLFHGRSAVQMYADYMTSFRENMKEFLDAGVIVDIEVGLGPAGEMRYPSYPQSHGWSFPGIGEFICYDKYLQADFKAAAAAVGHPEWEFPNDAGQYNDTPERTQFFRDNGTYLTEKGRFFLAWYSNNLIKHGDRILDEANKVFLGYKVQLAIKISGIHWWYKVPSHAAELTAGYYNLHDRDGYRTIARMLKRHRASINFTCAEMRDSEQSSQAMSAPEELVQQVLSAGWREGLNVACENALPRYDPTAYNTILRNARPHGINQSGPPEHKLFGFTYLRLSNQLVEGQNYVNFKTFVDRMHANLPRDPYVDPMAPLPRSGPEISIEMILQAAKPKLQPFPFQEHTDLPVGPTGGMGGQAEGPTCGMGGQVKGPTGGMGGQAEDPTSGMGGELPATM
UniProt ID: P82993
Variant: K -> Q at position 472-472
Protein function: Catalyzes the liberation of maltose from 1,4-alpha-D glucans.
Reference sequence:
MEVNVKGNYVQVYVMLPLDAVSVNNRFEKGDELRAQLRKLVEAGVDGVMVDVWWGLVEGKGPKAYDWSAYKQLFELVQKAGLKLQAIMSFHQCGGNVGDAVNIPIPQWVRDVGTRDPDIFYTDGHGTRNIEYLTLGVDNQPLFHGRSAVQMYADYMTSFRENMKEFLDAGVIVDIEVGLGPAGEMRYPSYPQSHGWSFPGIGEFICYDKYLQADFKAAAAAVGHPEWEFPNDAGQYNDTPERTQFFRDNGTYLTEKGRFFLAWYSNNLIKHGDRILDEANKVFLGYKVQLAIKISGIHWWYKVPSHAAELTAGYYNLHDRDGYRTIARMLKRHRASINFTCAEMRDSEQSSQAMSAPEELVQQVLSAGWREGLNVACENALPRYDPTAYNTILRNARPHGINQSGPPEHKLFGFTYLRLSNQLVEGQNYVNFKTFVDRMHANLPRDPYVDPMAPLPRSGPEISIEMILQAAKPKLQPFPFQEHTDLPVGPTGGMGGQAEGPTCGMGGQVKGPTGGMGGQAEDPTSGMGGELPATM
UniProt ID: P83036
Variant: D -> DD at position 179-179
Variant annotation: in 4764 Da polypeptide
Protein function: Inhibits trypsin, plasmin, human plasma kallikrein, chymotrypsin and factor XIIa activity.
Reference sequence:
QVLVDLDGDPLYNGMSYYILPVARGKGGGLELARTGSESCPRTVVQTRSETSRGLPARLASPYRILIGSNIPLTIEFQPQKPYSCHGHSSRSLQWKVEKTQMVKIASSDEEQRLFGPFQIQPYRNHYKLVYCESESRNHHDDCRDLGISIDDQQNRLLVVKNGDPLVVQFAKANRGGDD
UniProt ID: P83055
Variant: F -> L at position 74-74
Protein function: Potent vasodilator. Binds B1 (BDKRB1) and B2 (BDKRB2) bradykinin receptors.
Reference sequence:
MRLWFCLSFFIVLCLEHFPGTLADERNNRDYTIRTRLHGHHKPSRNNRYAIKTSIHGHHIPRNVPESEEKTEQFLRDLPKINRKGPRPPGFSPFRGKFHSQSLRQIPGLGPLRG
UniProt ID: P83111
Variant: R -> K at position 469-469
Variant annotation: does not affect serine protease activity; shows reduced tumor suppressor activity; shows reduced ability to down-regulate phosphatidylethanolamine (PtdEtn) levels; dbSNP:rs2729835
Protein function: Mitochondrial serine protease that acts as a regulator of mitochondrial lipid metabolism . Acts by decreasing protein levels of PISD, a mitochondrial enzyme that converts phosphatidylserine (PtdSer) to phosphatidylethanolamine (PtdEtn), thereby affecting mitochondrial lipid metabolism . It is unclear whether it acts directly by mediating proteolysis of PISD or by mediating proteolysis of another lipid metabolism protein . Acts as a tumor suppressor that has the ability to inhibit proliferation of multiple types of breast cancer cells: probably by promoting decreased levels of PISD, thereby affecting mitochondrial lipid metabolism .
Reference sequence:
MYRLMSAVTARAAAPGGLASSCGRRGVHQRAGLPPLGHGWVGGLGLGLGLALGVKLAGGLRGAAPAQSPAAPDPEASPLAEPPQEQSLAPWSPQTPAPPCSRCFARAIESSRDLLHRIKDEVGAPGIVVGVSVDGKEVWSEGLGYADVENRVPCKPETVMRIASISKSLTMVALAKLWEAGKLDLDIPVQHYVPEFPEKEYEGEKVSVTTRLLISHLSGIRHYEKDIKKVKEEKAYKALKMMKENVAFEQEKEGKSNEKNDFTKFKTEQENEAKCRNSKPGKKKNDFEQGELYLREKFENSIESLRLFKNDPLFFKPGSQFLYSTFGYTLLAAIVERASGCKYLDYMQKIFHDLDMLTTVQEENEPVIYNRARFYVYNKKKRLVNTPYVDNSYKWAGGGFLSTVGDLLKFGNAMLYGYQVGLFKNSNENLLPGYLKPETMVMMWTPVPNTEMSWDKEGKYAMAWGVVERKQTYGSCRKQRHYASHTGGAVGASSVLLVLPEELDTETINNKVPPRGIIVSIICNMQSVGLNSTALKIALEFDKDRSD
UniProt ID: P83180
Variant: A -> D at position 42-42
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DASGATLAKRQQVVNHLLEHIYDHTHFTDLKNIAGTFSPEAATSIYTDDMEELRDGRLLEQHHWFSLFNTRQRMLFEVLIHCKSWECFLDNAAYFRERMNEGEFVYAIYVAVIHSGIGHGIVIPPIYEVTPHIFTNSEVINKAYSAKMTQTPGRFNMDFTGTKKNKEQRVAYFGEDIGMNIHHVTWHMDFPFWWKDSYGYHLDRKGELFFWVHHQLTARFDSERISNWIDVVDEIHWSCIEGFAPHTSYKYGGEFPARPDNVHFEDVDGVARVRDSRIRDALAHGYLLDNSGNKSSVYSPNVQYYGAIHNTAHIMIGRQGDHKFDMPPGVMEHFETATRDPSFFRLHKYMDNIFKEHKDSLPPYTKNDIAVPGVVIDSVAQLKTFFDTFEVNLGNAKVADVAISADVHRINHEEFSYNIDISNTDKIFICPVKDDNGIMDKFYKSIDPGTNHIVRKSVDSSVTVPDRQYALDLHMFERSCGIPNRDMIIIESRPDGMDFALFVTVDDPEEIGATHSQHGIKKYPDKKPMGYPVDRSIPDNRVFLESPNIKRTYVKVFHDEHGGEQH
UniProt ID: P83180
Variant: A -> G at position 146-146
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DASGATLAKRQQVVNHLLEHIYDHTHFTDLKNIAGTFSPEAATSIYTDDMEELRDGRLLEQHHWFSLFNTRQRMLFEVLIHCKSWECFLDNAAYFRERMNEGEFVYAIYVAVIHSGIGHGIVIPPIYEVTPHIFTNSEVINKAYSAKMTQTPGRFNMDFTGTKKNKEQRVAYFGEDIGMNIHHVTWHMDFPFWWKDSYGYHLDRKGELFFWVHHQLTARFDSERISNWIDVVDEIHWSCIEGFAPHTSYKYGGEFPARPDNVHFEDVDGVARVRDSRIRDALAHGYLLDNSGNKSSVYSPNVQYYGAIHNTAHIMIGRQGDHKFDMPPGVMEHFETATRDPSFFRLHKYMDNIFKEHKDSLPPYTKNDIAVPGVVIDSVAQLKTFFDTFEVNLGNAKVADVAISADVHRINHEEFSYNIDISNTDKIFICPVKDDNGIMDKFYKSIDPGTNHIVRKSVDSSVTVPDRQYALDLHMFERSCGIPNRDMIIIESRPDGMDFALFVTVDDPEEIGATHSQHGIKKYPDKKPMGYPVDRSIPDNRVFLESPNIKRTYVKVFHDEHGGEQH
UniProt ID: P83180
Variant: I -> G at position 235-235
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DASGATLAKRQQVVNHLLEHIYDHTHFTDLKNIAGTFSPEAATSIYTDDMEELRDGRLLEQHHWFSLFNTRQRMLFEVLIHCKSWECFLDNAAYFRERMNEGEFVYAIYVAVIHSGIGHGIVIPPIYEVTPHIFTNSEVINKAYSAKMTQTPGRFNMDFTGTKKNKEQRVAYFGEDIGMNIHHVTWHMDFPFWWKDSYGYHLDRKGELFFWVHHQLTARFDSERISNWIDVVDEIHWSCIEGFAPHTSYKYGGEFPARPDNVHFEDVDGVARVRDSRIRDALAHGYLLDNSGNKSSVYSPNVQYYGAIHNTAHIMIGRQGDHKFDMPPGVMEHFETATRDPSFFRLHKYMDNIFKEHKDSLPPYTKNDIAVPGVVIDSVAQLKTFFDTFEVNLGNAKVADVAISADVHRINHEEFSYNIDISNTDKIFICPVKDDNGIMDKFYKSIDPGTNHIVRKSVDSSVTVPDRQYALDLHMFERSCGIPNRDMIIIESRPDGMDFALFVTVDDPEEIGATHSQHGIKKYPDKKPMGYPVDRSIPDNRVFLESPNIKRTYVKVFHDEHGGEQH
UniProt ID: P83180
Variant: D -> A at position 447-447
Protein function: Hemocyanins are copper-containing oxygen carriers occurring freely dissolved in the hemolymph of many mollusks and arthropods.
Reference sequence:
DASGATLAKRQQVVNHLLEHIYDHTHFTDLKNIAGTFSPEAATSIYTDDMEELRDGRLLEQHHWFSLFNTRQRMLFEVLIHCKSWECFLDNAAYFRERMNEGEFVYAIYVAVIHSGIGHGIVIPPIYEVTPHIFTNSEVINKAYSAKMTQTPGRFNMDFTGTKKNKEQRVAYFGEDIGMNIHHVTWHMDFPFWWKDSYGYHLDRKGELFFWVHHQLTARFDSERISNWIDVVDEIHWSCIEGFAPHTSYKYGGEFPARPDNVHFEDVDGVARVRDSRIRDALAHGYLLDNSGNKSSVYSPNVQYYGAIHNTAHIMIGRQGDHKFDMPPGVMEHFETATRDPSFFRLHKYMDNIFKEHKDSLPPYTKNDIAVPGVVIDSVAQLKTFFDTFEVNLGNAKVADVAISADVHRINHEEFSYNIDISNTDKIFICPVKDDNGIMDKFYKSIDPGTNHIVRKSVDSSVTVPDRQYALDLHMFERSCGIPNRDMIIIESRPDGMDFALFVTVDDPEEIGATHSQHGIKKYPDKKPMGYPVDRSIPDNRVFLESPNIKRTYVKVFHDEHGGEQH
UniProt ID: P83304
Variant: I -> V at position 70-70
Protein function: Mannose/glucose specific lectin. Shows agglutinating activity against rabbit erythrocytes.
Reference sequence:
SLKGMISVGPWGGSGGNYWSFKANHAITEIVIHVKDNIKSISFKDASGDISGTFGGKDPRENEKGDEKKIKIHWPTEYLKSISGSYGDYNGVLVIRSLSFITNLTTYGPFGSTSGGESFSIPIADSVVVGFHGRAGYYLDALGIFVQPVPHGTISFGPWGGPAGDDAFNFKVGSWIKDIIIYADAAINSIAFKDANGHCYGKFGGQDPNDIGVEKKVEIDGNLEHLKSISGTYGNYKGFEVVTSLSFITNVTKHGPFGIASGTSFSIPIEGSLVTGFHGKSGYYLDSIGIYVKPRDVEGSISIGPWGGSGGDPWSYTANEGINQIIIYAGSNIKSVAFKDTSGLDSATFGGVNPKDTGEKNTVSINWPSEYLTSISGTYGQYKFKDVFTTITSLSFTTNLATYGPFGKASATSFSIPIHNNMVVGFHGRAGDYLDAIGIFVKPDTAV
UniProt ID: P83304
Variant: K -> R at position 227-227
Protein function: Mannose/glucose specific lectin. Shows agglutinating activity against rabbit erythrocytes.
Reference sequence:
SLKGMISVGPWGGSGGNYWSFKANHAITEIVIHVKDNIKSISFKDASGDISGTFGGKDPRENEKGDEKKIKIHWPTEYLKSISGSYGDYNGVLVIRSLSFITNLTTYGPFGSTSGGESFSIPIADSVVVGFHGRAGYYLDALGIFVQPVPHGTISFGPWGGPAGDDAFNFKVGSWIKDIIIYADAAINSIAFKDANGHCYGKFGGQDPNDIGVEKKVEIDGNLEHLKSISGTYGNYKGFEVVTSLSFITNVTKHGPFGIASGTSFSIPIEGSLVTGFHGKSGYYLDSIGIYVKPRDVEGSISIGPWGGSGGDPWSYTANEGINQIIIYAGSNIKSVAFKDTSGLDSATFGGVNPKDTGEKNTVSINWPSEYLTSISGTYGQYKFKDVFTTITSLSFTTNLATYGPFGKASATSFSIPIHNNMVVGFHGRAGDYLDAIGIFVKPDTAV
UniProt ID: P83304
Variant: D -> N at position 296-296
Protein function: Mannose/glucose specific lectin. Shows agglutinating activity against rabbit erythrocytes.
Reference sequence:
SLKGMISVGPWGGSGGNYWSFKANHAITEIVIHVKDNIKSISFKDASGDISGTFGGKDPRENEKGDEKKIKIHWPTEYLKSISGSYGDYNGVLVIRSLSFITNLTTYGPFGSTSGGESFSIPIADSVVVGFHGRAGYYLDALGIFVQPVPHGTISFGPWGGPAGDDAFNFKVGSWIKDIIIYADAAINSIAFKDANGHCYGKFGGQDPNDIGVEKKVEIDGNLEHLKSISGTYGNYKGFEVVTSLSFITNVTKHGPFGIASGTSFSIPIEGSLVTGFHGKSGYYLDSIGIYVKPRDVEGSISIGPWGGSGGDPWSYTANEGINQIIIYAGSNIKSVAFKDTSGLDSATFGGVNPKDTGEKNTVSINWPSEYLTSISGTYGQYKFKDVFTTITSLSFTTNLATYGPFGKASATSFSIPIHNNMVVGFHGRAGDYLDAIGIFVKPDTAV
UniProt ID: P83410
Variant: M -> I at position 59-59
Protein function: Galactose and N-acetyllactosamine specific lectin.
Reference sequence:
VETISFSFSEFEPGNDNLTLQGAALITQSGVLQLTKINQNGMPAWDSTGRTLYTKPVHMWDSTTGTVASFETRFSFSIEQPYTRPLPADGLVFFMGPTKSKPAQGYGYLGVFNNSKQDNSYQTLAVEFDTFSNPWDPPQVPHIGIDVNSIRSIKTQPFQLDNGQVANVVIKYDAPSKILHVVLVYPSSGAIYTIAEIVDVKQVLPDWVDVGLSGATGAQRDAAETHDVYSWSFQASLPE
UniProt ID: P83436
Variant: T -> M at position 605-605
Variant annotation: in dbSNP:rs16940094
Protein function: Required for normal Golgi function.
Reference sequence:
MDFSKFLADDFDVKEWINAAFRAGSKEAASGKADGHAATLVMKLQLFIQEVNHAVEETSHQALQNMPKVLRDVEALKQEASFLKEQMILVKEDIKKFEQDTSQSMQVLVEIDQVKSRMQLAAESLQEADKWSTLSADIEETFKTQDIAVISAKLTGMQNSLMMLVDTPDYSEKCVHLEALKNRLEALASPQIVAAFTSQAVDQSKVFVKVFTEIDRMPQLLAYYYKCHKVQLLAAWQELCQSDLSLDRQLTGLYDALLGAWHTQIQWATQVFQKPHEVVMVLLIQTLGALMPSLPSCLSNGVERAGPEQELTRLLEFYDATAHFAKGLEMALLPHLHEHNLVKVTELVDAVYDPYKPYQLKYGDMEESNLLIQMSAVPLEHGEVIDCVQELSHSVNKLFGLASAAVDRCVRFTNGLGTCGLLSALKSLFAKYVSDFTSTLQSIRKKCKLDHIPPNSLFQEDWTAFQNSIRIIATCGELLRHCGDFEQQLANRILSTAGKYLSDSCSPRSLAGFQESILTDKKNSAKNPWQEYNYLQKDNPAEYASLMEILYTLKEKGSSNHNLLAAPRAALTRLNQQAHQLAFDSVFLRIKQQLLLISKMDSWNTAGIGETLTDELPAFSLTPLEYISNIGQYIMSLPLNLEPFVTQEDSALELALHAGKLPFPPEQGDELPELDNMADNWLGSIARATMQTYCDAILQIPELSPHSAKQLATDIDYLINVMDALGLQPSRTLQHIVTLLKTRPEDYRQVSKGLPRRLATTVATMRSVNY
UniProt ID: P83563
Variant: G -> LPG at position 92-92
Variant annotation: in Api m 6.02 and Api m 6.04
Protein function: May act as a protease inhibitor.
Reference sequence:
MSRLVLASFLLLAIFSMLVGGFGGFGGFGGLGGRGKCPSNEIFSRCDGRCQRFCPNVVPKPLCIKICAPGCVCRLGYLRNKKKVCVPRSKCG
UniProt ID: P83674
Variant: K -> N at position 15-15
Variant annotation: in strain: LEMB04 and LEMV99
Protein function: Lanthionine-containing peptide antibiotic (lantibiotic) active on Gram-positive bacteria. The bactericidal activity of lantibiotics is based on depolarization of energized bacterial cytoplasmic membranes, initiated by the formation of aqueous transmembrane pores. Ruminococcin A is a broad spectrum bacteriocin exhibiting activity against a wide range of pathogenic clostridia and B.longum.
Reference sequence:
MRNDVLTLTNPMEEKELEQILGGGNGVLKTISHECNMNTWQFLFTCC
UniProt ID: P83895
Variant: K -> L at position 8-8
Protein function: Neurotoxin. Causes rapid general flaccid paralysis and death in mice at dose levels of 5 ug per mouse.
Reference sequence:
GKCADAWKSCDNLPCCVVNGYSRTCMCSANRCNCEETKKLREHFG
UniProt ID: P83895
Variant: E -> D at position 35-35
Protein function: Neurotoxin. Causes rapid general flaccid paralysis and death in mice at dose levels of 5 ug per mouse.
Reference sequence:
GKCADAWKSCDNLPCCVVNGYSRTCMCSANRCNCEETKKLREHFG
UniProt ID: P83895
Variant: E -> D at position 36-36
Protein function: Neurotoxin. Causes rapid general flaccid paralysis and death in mice at dose levels of 5 ug per mouse.
Reference sequence:
GKCADAWKSCDNLPCCVVNGYSRTCMCSANRCNCEETKKLREHFG
UniProt ID: P83895
Variant: K -> T at position 39-39
Protein function: Neurotoxin. Causes rapid general flaccid paralysis and death in mice at dose levels of 5 ug per mouse.
Reference sequence:
GKCADAWKSCDNLPCCVVNGYSRTCMCSANRCNCEETKKLREHFG
UniProt ID: P83895
Variant: H -> N at position 43-43
Protein function: Neurotoxin. Causes rapid general flaccid paralysis and death in mice at dose levels of 5 ug per mouse.
Reference sequence:
GKCADAWKSCDNLPCCVVNGYSRTCMCSANRCNCEETKKLREHFG
UniProt ID: P83942
Variant: H -> W at position 62-62
Protein function: Snake venom VEGFs that may contribute to venom dispersion and prey subjugation by inducing vascular permeability and hypotension. This protein induces an increase in capillary permeability after intradermal injection, as well as a drastic hypotensive effect after intravenous injection . The hypotension is mediated by nitric oxide (NO), which is produced by VEGF-activated endothelium NO synthase . Also induces angiogenesis in vitro, probably through VEGF receptor (KDR/VEGFR-2) signaling .
Reference sequence:
QVRPFLEVHERSACQARETLVSILQEYPDEISDIFRPSCVAVLRCSGCCTDESLKCTPVGKHTVDLQIMRVNPRTQSSKMEVMKFTEHTACECRPRRKQGEPDGPKEKPR
UniProt ID: P83996
Variant: F -> L at position 7-7
Protein function: Neurotoxin. Causes spastic paralysis and death in mice. Moderate inhibitor of L-type calcium channels (Cav1/CACNA1).
Reference sequence:
IACAPRFSLCNSDKECCKGLRCQSRIANMWPTFCSQ
UniProt ID: P83996
Variant: Q -> K at position 23-23
Protein function: Neurotoxin. Causes spastic paralysis and death in mice. Moderate inhibitor of L-type calcium channels (Cav1/CACNA1).
Reference sequence:
IACAPRFSLCNSDKECCKGLRCQSRIANMWPTFCSQ
UniProt ID: P84011
Variant: Y -> H at position 42-42
Protein function: Non-toxic to mice.
Reference sequence:
ACLARGETCKDDCECCDCDNQCYCPFDWFGGKWHPVGCSCAYTNKYVCDHKKEKCKKA
UniProt ID: P84022
Variant: A -> V at position 112-112
Variant annotation: in LDS3; dbSNP:rs387906854
Protein function: Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
Reference sequence:
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS
UniProt ID: P84022
Variant: I -> V at position 170-170
Variant annotation: in dbSNP:rs35874463
Protein function: Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
Reference sequence:
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS
UniProt ID: P84022
Variant: E -> K at position 239-239
Variant annotation: in LDS3; dbSNP:rs387906853
Protein function: Receptor-regulated SMAD (R-SMAD) that is an intracellular signal transducer and transcriptional modulator activated by TGF-beta (transforming growth factor) and activin type 1 receptor kinases. Binds the TRE element in the promoter region of many genes that are regulated by TGF-beta and, on formation of the SMAD3/SMAD4 complex, activates transcription. Also can form a SMAD3/SMAD4/JUN/FOS complex at the AP-1/SMAD site to regulate TGF-beta-mediated transcription. Has an inhibitory effect on wound healing probably by modulating both growth and migration of primary keratinocytes and by altering the TGF-mediated chemotaxis of monocytes. This effect on wound healing appears to be hormone-sensitive. Regulator of chondrogenesis and osteogenesis and inhibits early healing of bone fractures. Positively regulates PDPK1 kinase activity by stimulating its dissociation from the 14-3-3 protein YWHAQ which acts as a negative regulator.
Reference sequence:
MSSILPFTPPIVKRLLGWKKGEQNGQEEKWCEKAVKSLVKKLKKTGQLDELEKAITTQNVNTKCITIPRSLDGRLQVSHRKGLPHVIYCRLWRWPDLHSHHELRAMELCEFAFNMKKDEVCVNPYHYQRVETPVLPPVLVPRHTEIPAEFPPLDDYSHSIPENTNFPAGIEPQSNIPETPPPGYLSEDGETSDHQMNHSMDAGSPNLSPNPMSPAHNNLDLQPVTYCEPAFWCSISYYELNQRVGETFHASQPSMTVDGFTDPSNSERFCLGLLSNVNRNAAVELTRRHIGRGVRLYYIGGEVFAECLSDSAIFVQSPNCNQRYGWHPATVCKIPPGCNLKIFNNQEFAALLAQSVNQGFEAVYQLTRMCTIRMSFVKGWGAEYRRQTVTSTPCWIELHLNGPLQWLDKVLTQMGSPSIRCSSVS