sujigwak/NVAR huggingface dataset:
UniProt ID: Q4ZHG4
Variant: L -> P at position 1261-1261
Variant annotation: in dbSNP:rs3003174
Protein function: May be an activator of G protein signaling.
Reference sequence:
MAPEAGATLRAPRRLSWAALLLLAALLPVASSAAASVDHPLKPRHVKLLSTKMGLKVTWDPPKDATSRPVEHYNIAYGKSLKSLKYIKVNAETYSFLIEDVEPGVVYFVLLTAENHSGVSRPVYRAESPPGGEWIEIDGFPIKGPGPFNETVTEKEVPNKPLRVRVRSSDDRLSVAWKAPRLSGAKSPRRSRGFLLGYGESGRKMNYVPLTRDERTHEIKKLASESVYVVSLQSMNSQGRSQPVYRAALTKRKISEEDELDVPDDISVRVMSSQSVLVSWVDPVLEKQKKVVASRQYTVRYREKGELARWDYKQIANRRVLIENLIPDTVYEFAVRISQGERDGKWSTSVFQRTPESAPTTAPENLNVWPVNGKPTVVAASWDALPETEGKVKEYILSYAPALKPFGAKSLTYPGDTTSALVDGLQPGERYLFKIRATNRRGLGPHSKAFIVAMPTTSKADVEQNTEDNGKPEKPEPSSPSPRAPASSQHPSVPASPQGRNAKDLLLDLKNKILANGGAPRKPQLRAKKAEELDLQSTEITGEEELGSREDSPMSPSDTQDQKRTLRPPSRHGHSVVAPGRTAVRARMPALPRREGVDKPGFSLATQPRPGAPPSASASPAHHASTQGTSHRPSLPASLNDNDLVDSDEDERAVGSLHPKGAFAQPRPALSPSRQSPSSVLRDRSSVHPGAKPASPARRTPHSGAAEEDSSASAPPSRLSPPHGGSSRLLPTQPHLSSPLSKGGKDGEDAPATNSNAPSRSTMSSSVSSHLSSRTQVSEGAEASDGESHGDGDREDGGRQAEATAQTLRARPASGHFHLLRHKPFAANGRSPSRFSIGRGPRLQPSSSPQSTVPSRAHPRVPSHSDSHPKLSSGIHGDEEDEKPLPATVVNDHVPSSSRQPISRGWEDLRRSPQRGASLHRKEPIPENPKSTGADTHPQGKYSSLASKAQDVQQSTDADTEGHSPKAQPGSTDRHASPARPPAARSQQHPSVPRRMTPGRAPQQQPPPPVATSQHHPGPQSRDAGRSPSQPRLSLTQAGRPRPTSQGRSHSSSDPYTASSRGMLPTALQNQDEDAQGSYDDDSTEVEAQDVRAPAHAARAKEAAASLPKHQQVESPTGAGAGGDHRSQRGHAASPARPSRPGGPQSRARVPSRAAPGKSEPPSKRPLSSKSQQSVSAEDDEEEDAGFFKGGKEDLLSSSVPKWPSSSTPRGGKDADGSLAKEEREPAIALAPRGGSLAPVKRPLPPPPGSSPRASHVPSRLPPRSAATVSPVAGTHPWPQYTTRAPPGHFSTTPMLSLRQRMMHARFRNPLSRQPARPSYRQGYNGRPNVEGKVLPGSNGKPNGQRIINGPQGTKWVVDLDRGLVLNAEGRYLQDSHGNPLRIKLGGDGRTIVDLEGTPVVSPDGLPLFGQGRHGTPLANAQDKPILSLGGKPLVGLEVIKKTTHPPTTTMQPTTTTTPLPTTTTPRPTTATTRRTTTTRRTTTRRPTTTVRTTTRTTTTTTPTPTTPIPTCPPGTLERHDDDGNLIMSSNGIPECYAEEDEFSGLETDTAVPTEEAYVIYDEDYEFETSRPPTTTEPSTTATTPRVIPEEGAISSFPEEEFDLAGRKRFVAPYVTYLNKDPSAPCSLTDALDHFQVDSLDEIIPNDLKKSDLPPQHAPRNITVVAVEGCHSFVIVDWDKATPGDVVTGYLVYSASYEDFIRNKWSTQASSVTHLPIENLKPNTRYYFKVQAQNPHGYGPISPSVSFVTESDNPLLVVRPPGGEPIWIPFAFKHDPSYTDCHGRQYVKRTWYRKFVGVVLCNSLRYKIYLSDNLKDTFYSIGDSWGRGEDHCQFVDSHLDGRTGPQSYVEALPTIQGYYRQYRQEPVRFGNIGFGTPYYYVGWYECGVSIPGKW
UniProt ID: Q4ZHG4
Variant: Q -> R at position 1280-1280
Variant annotation: in dbSNP:rs2501176
Protein function: May be an activator of G protein signaling.
Reference sequence:
MAPEAGATLRAPRRLSWAALLLLAALLPVASSAAASVDHPLKPRHVKLLSTKMGLKVTWDPPKDATSRPVEHYNIAYGKSLKSLKYIKVNAETYSFLIEDVEPGVVYFVLLTAENHSGVSRPVYRAESPPGGEWIEIDGFPIKGPGPFNETVTEKEVPNKPLRVRVRSSDDRLSVAWKAPRLSGAKSPRRSRGFLLGYGESGRKMNYVPLTRDERTHEIKKLASESVYVVSLQSMNSQGRSQPVYRAALTKRKISEEDELDVPDDISVRVMSSQSVLVSWVDPVLEKQKKVVASRQYTVRYREKGELARWDYKQIANRRVLIENLIPDTVYEFAVRISQGERDGKWSTSVFQRTPESAPTTAPENLNVWPVNGKPTVVAASWDALPETEGKVKEYILSYAPALKPFGAKSLTYPGDTTSALVDGLQPGERYLFKIRATNRRGLGPHSKAFIVAMPTTSKADVEQNTEDNGKPEKPEPSSPSPRAPASSQHPSVPASPQGRNAKDLLLDLKNKILANGGAPRKPQLRAKKAEELDLQSTEITGEEELGSREDSPMSPSDTQDQKRTLRPPSRHGHSVVAPGRTAVRARMPALPRREGVDKPGFSLATQPRPGAPPSASASPAHHASTQGTSHRPSLPASLNDNDLVDSDEDERAVGSLHPKGAFAQPRPALSPSRQSPSSVLRDRSSVHPGAKPASPARRTPHSGAAEEDSSASAPPSRLSPPHGGSSRLLPTQPHLSSPLSKGGKDGEDAPATNSNAPSRSTMSSSVSSHLSSRTQVSEGAEASDGESHGDGDREDGGRQAEATAQTLRARPASGHFHLLRHKPFAANGRSPSRFSIGRGPRLQPSSSPQSTVPSRAHPRVPSHSDSHPKLSSGIHGDEEDEKPLPATVVNDHVPSSSRQPISRGWEDLRRSPQRGASLHRKEPIPENPKSTGADTHPQGKYSSLASKAQDVQQSTDADTEGHSPKAQPGSTDRHASPARPPAARSQQHPSVPRRMTPGRAPQQQPPPPVATSQHHPGPQSRDAGRSPSQPRLSLTQAGRPRPTSQGRSHSSSDPYTASSRGMLPTALQNQDEDAQGSYDDDSTEVEAQDVRAPAHAARAKEAAASLPKHQQVESPTGAGAGGDHRSQRGHAASPARPSRPGGPQSRARVPSRAAPGKSEPPSKRPLSSKSQQSVSAEDDEEEDAGFFKGGKEDLLSSSVPKWPSSSTPRGGKDADGSLAKEEREPAIALAPRGGSLAPVKRPLPPPPGSSPRASHVPSRLPPRSAATVSPVAGTHPWPQYTTRAPPGHFSTTPMLSLRQRMMHARFRNPLSRQPARPSYRQGYNGRPNVEGKVLPGSNGKPNGQRIINGPQGTKWVVDLDRGLVLNAEGRYLQDSHGNPLRIKLGGDGRTIVDLEGTPVVSPDGLPLFGQGRHGTPLANAQDKPILSLGGKPLVGLEVIKKTTHPPTTTMQPTTTTTPLPTTTTPRPTTATTRRTTTTRRTTTRRPTTTVRTTTRTTTTTTPTPTTPIPTCPPGTLERHDDDGNLIMSSNGIPECYAEEDEFSGLETDTAVPTEEAYVIYDEDYEFETSRPPTTTEPSTTATTPRVIPEEGAISSFPEEEFDLAGRKRFVAPYVTYLNKDPSAPCSLTDALDHFQVDSLDEIIPNDLKKSDLPPQHAPRNITVVAVEGCHSFVIVDWDKATPGDVVTGYLVYSASYEDFIRNKWSTQASSVTHLPIENLKPNTRYYFKVQAQNPHGYGPISPSVSFVTESDNPLLVVRPPGGEPIWIPFAFKHDPSYTDCHGRQYVKRTWYRKFVGVVLCNSLRYKIYLSDNLKDTFYSIGDSWGRGEDHCQFVDSHLDGRTGPQSYVEALPTIQGYYRQYRQEPVRFGNIGFGTPYYYVGWYECGVSIPGKW
UniProt ID: Q4ZHG4
Variant: T -> K at position 1504-1504
Variant annotation: in dbSNP:rs386360
Protein function: May be an activator of G protein signaling.
Reference sequence:
MAPEAGATLRAPRRLSWAALLLLAALLPVASSAAASVDHPLKPRHVKLLSTKMGLKVTWDPPKDATSRPVEHYNIAYGKSLKSLKYIKVNAETYSFLIEDVEPGVVYFVLLTAENHSGVSRPVYRAESPPGGEWIEIDGFPIKGPGPFNETVTEKEVPNKPLRVRVRSSDDRLSVAWKAPRLSGAKSPRRSRGFLLGYGESGRKMNYVPLTRDERTHEIKKLASESVYVVSLQSMNSQGRSQPVYRAALTKRKISEEDELDVPDDISVRVMSSQSVLVSWVDPVLEKQKKVVASRQYTVRYREKGELARWDYKQIANRRVLIENLIPDTVYEFAVRISQGERDGKWSTSVFQRTPESAPTTAPENLNVWPVNGKPTVVAASWDALPETEGKVKEYILSYAPALKPFGAKSLTYPGDTTSALVDGLQPGERYLFKIRATNRRGLGPHSKAFIVAMPTTSKADVEQNTEDNGKPEKPEPSSPSPRAPASSQHPSVPASPQGRNAKDLLLDLKNKILANGGAPRKPQLRAKKAEELDLQSTEITGEEELGSREDSPMSPSDTQDQKRTLRPPSRHGHSVVAPGRTAVRARMPALPRREGVDKPGFSLATQPRPGAPPSASASPAHHASTQGTSHRPSLPASLNDNDLVDSDEDERAVGSLHPKGAFAQPRPALSPSRQSPSSVLRDRSSVHPGAKPASPARRTPHSGAAEEDSSASAPPSRLSPPHGGSSRLLPTQPHLSSPLSKGGKDGEDAPATNSNAPSRSTMSSSVSSHLSSRTQVSEGAEASDGESHGDGDREDGGRQAEATAQTLRARPASGHFHLLRHKPFAANGRSPSRFSIGRGPRLQPSSSPQSTVPSRAHPRVPSHSDSHPKLSSGIHGDEEDEKPLPATVVNDHVPSSSRQPISRGWEDLRRSPQRGASLHRKEPIPENPKSTGADTHPQGKYSSLASKAQDVQQSTDADTEGHSPKAQPGSTDRHASPARPPAARSQQHPSVPRRMTPGRAPQQQPPPPVATSQHHPGPQSRDAGRSPSQPRLSLTQAGRPRPTSQGRSHSSSDPYTASSRGMLPTALQNQDEDAQGSYDDDSTEVEAQDVRAPAHAARAKEAAASLPKHQQVESPTGAGAGGDHRSQRGHAASPARPSRPGGPQSRARVPSRAAPGKSEPPSKRPLSSKSQQSVSAEDDEEEDAGFFKGGKEDLLSSSVPKWPSSSTPRGGKDADGSLAKEEREPAIALAPRGGSLAPVKRPLPPPPGSSPRASHVPSRLPPRSAATVSPVAGTHPWPQYTTRAPPGHFSTTPMLSLRQRMMHARFRNPLSRQPARPSYRQGYNGRPNVEGKVLPGSNGKPNGQRIINGPQGTKWVVDLDRGLVLNAEGRYLQDSHGNPLRIKLGGDGRTIVDLEGTPVVSPDGLPLFGQGRHGTPLANAQDKPILSLGGKPLVGLEVIKKTTHPPTTTMQPTTTTTPLPTTTTPRPTTATTRRTTTTRRTTTRRPTTTVRTTTRTTTTTTPTPTTPIPTCPPGTLERHDDDGNLIMSSNGIPECYAEEDEFSGLETDTAVPTEEAYVIYDEDYEFETSRPPTTTEPSTTATTPRVIPEEGAISSFPEEEFDLAGRKRFVAPYVTYLNKDPSAPCSLTDALDHFQVDSLDEIIPNDLKKSDLPPQHAPRNITVVAVEGCHSFVIVDWDKATPGDVVTGYLVYSASYEDFIRNKWSTQASSVTHLPIENLKPNTRYYFKVQAQNPHGYGPISPSVSFVTESDNPLLVVRPPGGEPIWIPFAFKHDPSYTDCHGRQYVKRTWYRKFVGVVLCNSLRYKIYLSDNLKDTFYSIGDSWGRGEDHCQFVDSHLDGRTGPQSYVEALPTIQGYYRQYRQEPVRFGNIGFGTPYYYVGWYECGVSIPGKW
UniProt ID: Q4ZHG4
Variant: T -> A at position 1574-1574
Variant annotation: in dbSNP:rs7763726
Protein function: May be an activator of G protein signaling.
Reference sequence:
MAPEAGATLRAPRRLSWAALLLLAALLPVASSAAASVDHPLKPRHVKLLSTKMGLKVTWDPPKDATSRPVEHYNIAYGKSLKSLKYIKVNAETYSFLIEDVEPGVVYFVLLTAENHSGVSRPVYRAESPPGGEWIEIDGFPIKGPGPFNETVTEKEVPNKPLRVRVRSSDDRLSVAWKAPRLSGAKSPRRSRGFLLGYGESGRKMNYVPLTRDERTHEIKKLASESVYVVSLQSMNSQGRSQPVYRAALTKRKISEEDELDVPDDISVRVMSSQSVLVSWVDPVLEKQKKVVASRQYTVRYREKGELARWDYKQIANRRVLIENLIPDTVYEFAVRISQGERDGKWSTSVFQRTPESAPTTAPENLNVWPVNGKPTVVAASWDALPETEGKVKEYILSYAPALKPFGAKSLTYPGDTTSALVDGLQPGERYLFKIRATNRRGLGPHSKAFIVAMPTTSKADVEQNTEDNGKPEKPEPSSPSPRAPASSQHPSVPASPQGRNAKDLLLDLKNKILANGGAPRKPQLRAKKAEELDLQSTEITGEEELGSREDSPMSPSDTQDQKRTLRPPSRHGHSVVAPGRTAVRARMPALPRREGVDKPGFSLATQPRPGAPPSASASPAHHASTQGTSHRPSLPASLNDNDLVDSDEDERAVGSLHPKGAFAQPRPALSPSRQSPSSVLRDRSSVHPGAKPASPARRTPHSGAAEEDSSASAPPSRLSPPHGGSSRLLPTQPHLSSPLSKGGKDGEDAPATNSNAPSRSTMSSSVSSHLSSRTQVSEGAEASDGESHGDGDREDGGRQAEATAQTLRARPASGHFHLLRHKPFAANGRSPSRFSIGRGPRLQPSSSPQSTVPSRAHPRVPSHSDSHPKLSSGIHGDEEDEKPLPATVVNDHVPSSSRQPISRGWEDLRRSPQRGASLHRKEPIPENPKSTGADTHPQGKYSSLASKAQDVQQSTDADTEGHSPKAQPGSTDRHASPARPPAARSQQHPSVPRRMTPGRAPQQQPPPPVATSQHHPGPQSRDAGRSPSQPRLSLTQAGRPRPTSQGRSHSSSDPYTASSRGMLPTALQNQDEDAQGSYDDDSTEVEAQDVRAPAHAARAKEAAASLPKHQQVESPTGAGAGGDHRSQRGHAASPARPSRPGGPQSRARVPSRAAPGKSEPPSKRPLSSKSQQSVSAEDDEEEDAGFFKGGKEDLLSSSVPKWPSSSTPRGGKDADGSLAKEEREPAIALAPRGGSLAPVKRPLPPPPGSSPRASHVPSRLPPRSAATVSPVAGTHPWPQYTTRAPPGHFSTTPMLSLRQRMMHARFRNPLSRQPARPSYRQGYNGRPNVEGKVLPGSNGKPNGQRIINGPQGTKWVVDLDRGLVLNAEGRYLQDSHGNPLRIKLGGDGRTIVDLEGTPVVSPDGLPLFGQGRHGTPLANAQDKPILSLGGKPLVGLEVIKKTTHPPTTTMQPTTTTTPLPTTTTPRPTTATTRRTTTTRRTTTRRPTTTVRTTTRTTTTTTPTPTTPIPTCPPGTLERHDDDGNLIMSSNGIPECYAEEDEFSGLETDTAVPTEEAYVIYDEDYEFETSRPPTTTEPSTTATTPRVIPEEGAISSFPEEEFDLAGRKRFVAPYVTYLNKDPSAPCSLTDALDHFQVDSLDEIIPNDLKKSDLPPQHAPRNITVVAVEGCHSFVIVDWDKATPGDVVTGYLVYSASYEDFIRNKWSTQASSVTHLPIENLKPNTRYYFKVQAQNPHGYGPISPSVSFVTESDNPLLVVRPPGGEPIWIPFAFKHDPSYTDCHGRQYVKRTWYRKFVGVVLCNSLRYKIYLSDNLKDTFYSIGDSWGRGEDHCQFVDSHLDGRTGPQSYVEALPTIQGYYRQYRQEPVRFGNIGFGTPYYYVGWYECGVSIPGKW
UniProt ID: Q4ZJI4
Variant: Q -> H at position 33-33
Variant annotation: in dbSNP:rs2715591
Protein function: Sperm-specific Na(+)/H(+) exchanger involved in intracellular pH regulation of spermatozoa. Involved in sperm motility and fertility.
Reference sequence:
MHTTESKNEHLEDENFQTSTTPQSLIDPNNTAQEETKTVLSDTEEIKPQTKKETYISCPLRGVLNVIITNGVILFVIWCMTWSILGSEALPGGNLFGLFIIFYSAIIGGKILQLIRIPLVPPLPPLLGMLLAGFTIRNVPFINEHVHVPNTWSSILRSIALTIILIRAGLGLDPQALRHLKVVCFRLAVGPCLMEASAAAVFSHFIMKFPWQWAFLLGFVLGAVSPAVVVPYMMVLQENGYGVEEGIPTLLMAASSMDDILAITGFNTCLSIVFSSGGILNNAIASIRNVCISLLAGIVLGFFVRYFPSEDQKKLTLKRGFLVLTMCVSAVLGSQRIGLHGSGGLCTLVLSFIAGTKWSQEKMKVQKIITTVWDIFQPLLFGLVGAEVSVSSLESNIVGISVATLSLALCVRILTTYLLMCFAGFSFKEKIFIALAWMPKATVQAVLGPLALETARVSAPHLEPYAKDVMTVAFLAILITAPNGALLMGILGPKMLTRHYDPSKIKLQLSTLEHH
UniProt ID: Q502X0
Variant: E -> K at position 48-48
Variant annotation: in dbSNP:rs3099950
Protein function: Might have a role in spermatogenesis.
Reference sequence:
MNGFGRLEHFSGAVYEGQFKDNMFHGLGTYTFPNGAKYTGNFNENRVEGEGEYTDIQGLEWSGNFHFTAAPDLKLKLHM
UniProt ID: Q50395
Variant: I -> F at position 289-289
Variant annotation: resistance to EMB
Protein function: Arabinosyl transferase responsible for the polymerization of arabinose into the arabinan of arabinogalactan.
Reference sequence:
MSGNMDEAVSGNMDEAVSAGKDVRIARWVATIAGLLGFVLSVSIPLLPVTQTTATLNWPQQGRLDNVTAPLISQAPLELTATVPCSVVRDLPPEGGLVFGTAPAEGRDAALNAMLVNVTETRVDVIVRNVVVASVNRDRVAGPDCQRIEITSNLDGTYADFVGLTQISGEDAGKLQRTGYPDPNLRPAIVGVFTDLTGPAPQGLSVSAEIDTRFTTHPTALKLAAMLLAIVSTVIALLALWRLDRLDGRRMHRLIPTRWRTVTAVDGVVVGGMAIWYVIGANSSDDGYILQMARTAEHAGYMANYFRWFGSPEDPFGWYYNVLALMTKVSDASIWIRLPDLICALICWLLLSREVLPRLGPAVAGSRAAMWAAGLVLLGAWMPFNNGLRPEGQIATGALITYVLIERAVTSGRLTPAALAITTAAFTLGIQPTGLIAVAALLAGGRPILRIVIRRRRLDGTWPLIAPLLAAGTVILAVVFADQTIATVLEATRIRTAIGPSQEWWTEKLRYYYLILPTTDGAISRRVAFVFTAMCLFPSLFMMLRRKHIAGVARGPAWRLMGIIFATMFFLMFTPTKWTHHFGLFAAVGGAMAALATVLVSPTVLRSARNRMAFLSLVLFVLAFCFASTNGWWYVSNFGAPFNNSVPKVGGVQISAIFFALSAIAALWAFWLHLTRRTESRVVDRLTAAPIPVAAGFMVVVMMASMAIGVVRQYPTYSNGWANIRAFAGGCGLADDVLVEPDSNAGFLTPLPGAYGPLGPLGGEDPQGFSPDGVPDRIIAEAIRLNNPQPGTDYDWNRPIKLDEPGINGSTVPLPYGLDPKRVPVAGTYSTEAQQESRLSSAWYELPARDETERAAHPLVVITAAGTITGESVANGLTTGQTVDLEYATRGPDGTLVPAGRVTPYDVGPTPSWRNLRYPRSEIPDDAVAVRVVAEDLSLSQGDWIAVTPPRVPELQSVQEYVGSDQPVLMDWAVGLAFPCQQPMLHANGVTEVPKFRISPDYYAKLQSTDTWQDGINGGLLGITDLLLRASVMSTYLSQDWGQDWGSLRKFDTVVEATPAELDFGSQTHSGLYSPGPLRIRP
UniProt ID: Q50395
Variant: I -> M at position 289-289
Variant annotation: resistance to EMB
Protein function: Arabinosyl transferase responsible for the polymerization of arabinose into the arabinan of arabinogalactan.
Reference sequence:
MSGNMDEAVSGNMDEAVSAGKDVRIARWVATIAGLLGFVLSVSIPLLPVTQTTATLNWPQQGRLDNVTAPLISQAPLELTATVPCSVVRDLPPEGGLVFGTAPAEGRDAALNAMLVNVTETRVDVIVRNVVVASVNRDRVAGPDCQRIEITSNLDGTYADFVGLTQISGEDAGKLQRTGYPDPNLRPAIVGVFTDLTGPAPQGLSVSAEIDTRFTTHPTALKLAAMLLAIVSTVIALLALWRLDRLDGRRMHRLIPTRWRTVTAVDGVVVGGMAIWYVIGANSSDDGYILQMARTAEHAGYMANYFRWFGSPEDPFGWYYNVLALMTKVSDASIWIRLPDLICALICWLLLSREVLPRLGPAVAGSRAAMWAAGLVLLGAWMPFNNGLRPEGQIATGALITYVLIERAVTSGRLTPAALAITTAAFTLGIQPTGLIAVAALLAGGRPILRIVIRRRRLDGTWPLIAPLLAAGTVILAVVFADQTIATVLEATRIRTAIGPSQEWWTEKLRYYYLILPTTDGAISRRVAFVFTAMCLFPSLFMMLRRKHIAGVARGPAWRLMGIIFATMFFLMFTPTKWTHHFGLFAAVGGAMAALATVLVSPTVLRSARNRMAFLSLVLFVLAFCFASTNGWWYVSNFGAPFNNSVPKVGGVQISAIFFALSAIAALWAFWLHLTRRTESRVVDRLTAAPIPVAAGFMVVVMMASMAIGVVRQYPTYSNGWANIRAFAGGCGLADDVLVEPDSNAGFLTPLPGAYGPLGPLGGEDPQGFSPDGVPDRIIAEAIRLNNPQPGTDYDWNRPIKLDEPGINGSTVPLPYGLDPKRVPVAGTYSTEAQQESRLSSAWYELPARDETERAAHPLVVITAAGTITGESVANGLTTGQTVDLEYATRGPDGTLVPAGRVTPYDVGPTPSWRNLRYPRSEIPDDAVAVRVVAEDLSLSQGDWIAVTPPRVPELQSVQEYVGSDQPVLMDWAVGLAFPCQQPMLHANGVTEVPKFRISPDYYAKLQSTDTWQDGINGGLLGITDLLLRASVMSTYLSQDWGQDWGSLRKFDTVVEATPAELDFGSQTHSGLYSPGPLRIRP
UniProt ID: Q50395
Variant: M -> T at position 292-292
Variant annotation: resistance to EMB
Protein function: Arabinosyl transferase responsible for the polymerization of arabinose into the arabinan of arabinogalactan.
Reference sequence:
MSGNMDEAVSGNMDEAVSAGKDVRIARWVATIAGLLGFVLSVSIPLLPVTQTTATLNWPQQGRLDNVTAPLISQAPLELTATVPCSVVRDLPPEGGLVFGTAPAEGRDAALNAMLVNVTETRVDVIVRNVVVASVNRDRVAGPDCQRIEITSNLDGTYADFVGLTQISGEDAGKLQRTGYPDPNLRPAIVGVFTDLTGPAPQGLSVSAEIDTRFTTHPTALKLAAMLLAIVSTVIALLALWRLDRLDGRRMHRLIPTRWRTVTAVDGVVVGGMAIWYVIGANSSDDGYILQMARTAEHAGYMANYFRWFGSPEDPFGWYYNVLALMTKVSDASIWIRLPDLICALICWLLLSREVLPRLGPAVAGSRAAMWAAGLVLLGAWMPFNNGLRPEGQIATGALITYVLIERAVTSGRLTPAALAITTAAFTLGIQPTGLIAVAALLAGGRPILRIVIRRRRLDGTWPLIAPLLAAGTVILAVVFADQTIATVLEATRIRTAIGPSQEWWTEKLRYYYLILPTTDGAISRRVAFVFTAMCLFPSLFMMLRRKHIAGVARGPAWRLMGIIFATMFFLMFTPTKWTHHFGLFAAVGGAMAALATVLVSPTVLRSARNRMAFLSLVLFVLAFCFASTNGWWYVSNFGAPFNNSVPKVGGVQISAIFFALSAIAALWAFWLHLTRRTESRVVDRLTAAPIPVAAGFMVVVMMASMAIGVVRQYPTYSNGWANIRAFAGGCGLADDVLVEPDSNAGFLTPLPGAYGPLGPLGGEDPQGFSPDGVPDRIIAEAIRLNNPQPGTDYDWNRPIKLDEPGINGSTVPLPYGLDPKRVPVAGTYSTEAQQESRLSSAWYELPARDETERAAHPLVVITAAGTITGESVANGLTTGQTVDLEYATRGPDGTLVPAGRVTPYDVGPTPSWRNLRYPRSEIPDDAVAVRVVAEDLSLSQGDWIAVTPPRVPELQSVQEYVGSDQPVLMDWAVGLAFPCQQPMLHANGVTEVPKFRISPDYYAKLQSTDTWQDGINGGLLGITDLLLRASVMSTYLSQDWGQDWGSLRKFDTVVEATPAELDFGSQTHSGLYSPGPLRIRP
UniProt ID: Q504Q3
Variant: S -> N at position 32-32
Variant annotation: in dbSNP:rs11558139
Protein function: Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation.
Reference sequence:
MNFEGLDPGLAEYAPAMHSALDPVLDAHLNPSLLQNVELDPEGVALEALPVQESVHIMEGVYSELHSVVAEVGVPVSVSHFDLHEEMLWVGSHGGHATSFFGPALERYSSFQVNGSDDIRQIQSLENGILFLTKNNLKYMARGGLIIFDYLLDENEDMHSLLLTDSSTLLVGGLQNHIIEIDLNTVQETQKYAVETPGVTIMRQTNRFFFCGHTSGKVSLRDLRTFKVEHEFDAFSGSLSDFDVHGNLLAACGFSSRLTGLACDRFLKVYDLRMMRAITPLQVHVDPAFLRFIPTYTSRLAIISQSGQCQFCEPTGLANPADIFHVNPVGPLLMTFDVSASKQALAFGDSEGCVHLWTDSPEPSFNPYSRETEFALPCLVDSLPPLDWSQDLLPLSLIPVPLTTDTLLSDWPAANSAPAPRRAPPVDAEILRTMKKVGFIGYAPNPRTRLRNQIPYRLKESDSEFDSFSQVTESPVGREEEPHLHMVSKKYRKVTIKYSKLGLEDFDFKHYNKTLFAGLEPHIPNAYCNCMIQVLYFLEPVRCLIQNHLCQKEFCLACELGFLFHMLDLSRGDPCQGNNFLRAFRTIPEASALGLILADSDEASGKGNLARLIQRWNRFILTQLHQDMQELEIPQAYRGAGGSSFCSSGDSVIGQLFSCEMENCSLCRCGSETVRASSTLLFTLSYPDGSKSDKTGKNYDFAQVLKRSICLDQNTQAWCDTCEKYQPTIQTRNIRHLPDILVINCEVNSSKEADFWRMQAEVAFKMAVKKHGGEISKNKEFALADWKELGSPEGVLVCPSIEELKNVWLPFSIRMKMTKNKGLDVCNWTDGDEMQWGPARAEEEHGVYVYDLMATVVHILDSRTGGSLVAHIKVGETYHQRKEGVTHQQWYLFNDFLIEPIDKHEAVQFDMNWKVPAILYYVKRNLNSRYNLNIKNPIEASVLLAEASLARKQRKTHTTFIPLMLNEMPQIGDLVGLDAEFVTLNEEEAELRSDGTKSTIKPSQMSVARITCVRGQGPNEGIPFIDDYISTQEQVVDYLTQYSGIKPGDLDAKISSKHLTTLKSTYLKLRFLIDIGVKFVGHGLQKDFRVINLMVPKDQVLDTVYLFHMPRKRMISLRFLAWYFLDLKIQGETHDSIEDARTALQLYRKYLELSKNGTEPESFHKVLKGLYEKGRKMDWKVPEPEGQTSPKNAAVFSSVLAL
UniProt ID: Q504Q3
Variant: I -> L at position 179-179
Variant annotation: in dbSNP:rs1918496
Protein function: Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation.
Reference sequence:
MNFEGLDPGLAEYAPAMHSALDPVLDAHLNPSLLQNVELDPEGVALEALPVQESVHIMEGVYSELHSVVAEVGVPVSVSHFDLHEEMLWVGSHGGHATSFFGPALERYSSFQVNGSDDIRQIQSLENGILFLTKNNLKYMARGGLIIFDYLLDENEDMHSLLLTDSSTLLVGGLQNHIIEIDLNTVQETQKYAVETPGVTIMRQTNRFFFCGHTSGKVSLRDLRTFKVEHEFDAFSGSLSDFDVHGNLLAACGFSSRLTGLACDRFLKVYDLRMMRAITPLQVHVDPAFLRFIPTYTSRLAIISQSGQCQFCEPTGLANPADIFHVNPVGPLLMTFDVSASKQALAFGDSEGCVHLWTDSPEPSFNPYSRETEFALPCLVDSLPPLDWSQDLLPLSLIPVPLTTDTLLSDWPAANSAPAPRRAPPVDAEILRTMKKVGFIGYAPNPRTRLRNQIPYRLKESDSEFDSFSQVTESPVGREEEPHLHMVSKKYRKVTIKYSKLGLEDFDFKHYNKTLFAGLEPHIPNAYCNCMIQVLYFLEPVRCLIQNHLCQKEFCLACELGFLFHMLDLSRGDPCQGNNFLRAFRTIPEASALGLILADSDEASGKGNLARLIQRWNRFILTQLHQDMQELEIPQAYRGAGGSSFCSSGDSVIGQLFSCEMENCSLCRCGSETVRASSTLLFTLSYPDGSKSDKTGKNYDFAQVLKRSICLDQNTQAWCDTCEKYQPTIQTRNIRHLPDILVINCEVNSSKEADFWRMQAEVAFKMAVKKHGGEISKNKEFALADWKELGSPEGVLVCPSIEELKNVWLPFSIRMKMTKNKGLDVCNWTDGDEMQWGPARAEEEHGVYVYDLMATVVHILDSRTGGSLVAHIKVGETYHQRKEGVTHQQWYLFNDFLIEPIDKHEAVQFDMNWKVPAILYYVKRNLNSRYNLNIKNPIEASVLLAEASLARKQRKTHTTFIPLMLNEMPQIGDLVGLDAEFVTLNEEEAELRSDGTKSTIKPSQMSVARITCVRGQGPNEGIPFIDDYISTQEQVVDYLTQYSGIKPGDLDAKISSKHLTTLKSTYLKLRFLIDIGVKFVGHGLQKDFRVINLMVPKDQVLDTVYLFHMPRKRMISLRFLAWYFLDLKIQGETHDSIEDARTALQLYRKYLELSKNGTEPESFHKVLKGLYEKGRKMDWKVPEPEGQTSPKNAAVFSSVLAL
UniProt ID: Q504Q3
Variant: A -> V at position 1201-1201
Variant annotation: in a colorectal cancer sample; somatic mutation; dbSNP:rs1330054285
Protein function: Catalytic subunit of the poly(A)-nuclease (PAN) deadenylation complex, one of two cytoplasmic mRNA deadenylases involved in general and miRNA-mediated mRNA turnover. PAN specifically shortens poly(A) tails of RNA and the activity is stimulated by poly(A)-binding protein (PABP). PAN deadenylation is followed by rapid degradation of the shortened mRNA tails by the CCR4-NOT complex. Deadenylated mRNAs are then degraded by two alternative mechanisms, namely exosome-mediated 3'-5' exonucleolytic degradation, or deadenlyation-dependent mRNA decaping and subsequent 5'-3' exonucleolytic degradation by XRN1. Also acts as an important regulator of the HIF1A-mediated hypoxic response. Required for HIF1A mRNA stability independent of poly(A) tail length regulation.
Reference sequence:
MNFEGLDPGLAEYAPAMHSALDPVLDAHLNPSLLQNVELDPEGVALEALPVQESVHIMEGVYSELHSVVAEVGVPVSVSHFDLHEEMLWVGSHGGHATSFFGPALERYSSFQVNGSDDIRQIQSLENGILFLTKNNLKYMARGGLIIFDYLLDENEDMHSLLLTDSSTLLVGGLQNHIIEIDLNTVQETQKYAVETPGVTIMRQTNRFFFCGHTSGKVSLRDLRTFKVEHEFDAFSGSLSDFDVHGNLLAACGFSSRLTGLACDRFLKVYDLRMMRAITPLQVHVDPAFLRFIPTYTSRLAIISQSGQCQFCEPTGLANPADIFHVNPVGPLLMTFDVSASKQALAFGDSEGCVHLWTDSPEPSFNPYSRETEFALPCLVDSLPPLDWSQDLLPLSLIPVPLTTDTLLSDWPAANSAPAPRRAPPVDAEILRTMKKVGFIGYAPNPRTRLRNQIPYRLKESDSEFDSFSQVTESPVGREEEPHLHMVSKKYRKVTIKYSKLGLEDFDFKHYNKTLFAGLEPHIPNAYCNCMIQVLYFLEPVRCLIQNHLCQKEFCLACELGFLFHMLDLSRGDPCQGNNFLRAFRTIPEASALGLILADSDEASGKGNLARLIQRWNRFILTQLHQDMQELEIPQAYRGAGGSSFCSSGDSVIGQLFSCEMENCSLCRCGSETVRASSTLLFTLSYPDGSKSDKTGKNYDFAQVLKRSICLDQNTQAWCDTCEKYQPTIQTRNIRHLPDILVINCEVNSSKEADFWRMQAEVAFKMAVKKHGGEISKNKEFALADWKELGSPEGVLVCPSIEELKNVWLPFSIRMKMTKNKGLDVCNWTDGDEMQWGPARAEEEHGVYVYDLMATVVHILDSRTGGSLVAHIKVGETYHQRKEGVTHQQWYLFNDFLIEPIDKHEAVQFDMNWKVPAILYYVKRNLNSRYNLNIKNPIEASVLLAEASLARKQRKTHTTFIPLMLNEMPQIGDLVGLDAEFVTLNEEEAELRSDGTKSTIKPSQMSVARITCVRGQGPNEGIPFIDDYISTQEQVVDYLTQYSGIKPGDLDAKISSKHLTTLKSTYLKLRFLIDIGVKFVGHGLQKDFRVINLMVPKDQVLDTVYLFHMPRKRMISLRFLAWYFLDLKIQGETHDSIEDARTALQLYRKYLELSKNGTEPESFHKVLKGLYEKGRKMDWKVPEPEGQTSPKNAAVFSSVLAL
UniProt ID: Q504Y3
Variant: L -> Q at position 202-202
Variant annotation: in dbSNP:rs1563656
Protein function: Histone methylation reader which binds to non-methylated (H3K4me0), monomethylated (H3K4me1), dimethylated (H3K4me2) and trimethylated (H3K4me3) 'Lys-4' on histone H3 . The order of binding preference is H3K4me3 > H3K4me2 > H3K4me1 > H3K4me0 .
Reference sequence:
MDKEKLDVKIEYCNYAMDSSVENMYVNKVWVQCENENCLKWRLLSSEDSAKVDHDEPWYCFMNTDSRYNNCSISEEDFPEESQLHQCGFKIVYSQLPLGSLVLVKLQNWPSWPGILCPDRFKGKYVTYDPDGNVEEYHIEFLGDPHSRSWIKATFVGHYSITLKPEKCKNKKKWYKSALQEACLLYGYSHEQRLEMCCLSKLQDKSETHDKVAALVKKRKQTSKNNIEKKKPKFRKRKRKAILKCSFENVYSDDALSKENRVVCETEVLLKELEQMLQQALQPTATPDESEEGHGEEINMGEKLSKCSPEAPAGSLFENHYEEDYLVIDGIKLKAGECIEDITNKFKEIDALMSEF
UniProt ID: Q508K4
Variant: T -> A at position 23-23
Variant annotation: in strain: Isolate LVT 3645
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MTILRKSHPLMKMVNHAFIDLPTPSNISGWWNFGSLLGLCLIIQIASGLFLAMHYTSDTITAFSSVAHICRDVNYGWLIRYIHANGASLFFICLYLHIGRGIYYGSYMYKETWNIGIMLLFLTMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGSTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAATAMVHLLFLHETGSNNPLGIPSDSDKIPFHPYYTFKDLLGVIIILASFLSFVLFFPDLLGDPDNYSPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVIALVLSILVLALFPLLHTANQRSMMFRPISQFLFWTLVSDLFILTWIGGQPVEPPFIIIGQVASILYFSIILVFLPIAGLIENKVLKW
UniProt ID: Q508K4
Variant: I -> M at position 60-60
Variant annotation: in strain: Isolate LVT 3645
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MTILRKSHPLMKMVNHAFIDLPTPSNISGWWNFGSLLGLCLIIQIASGLFLAMHYTSDTITAFSSVAHICRDVNYGWLIRYIHANGASLFFICLYLHIGRGIYYGSYMYKETWNIGIMLLFLTMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGSTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAATAMVHLLFLHETGSNNPLGIPSDSDKIPFHPYYTFKDLLGVIIILASFLSFVLFFPDLLGDPDNYSPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVIALVLSILVLALFPLLHTANQRSMMFRPISQFLFWTLVSDLFILTWIGGQPVEPPFIIIGQVASILYFSIILVFLPIAGLIENKVLKW
UniProt ID: Q508K4
Variant: M -> I at position 118-118
Variant annotation: in strain: Isolate LVT 3645
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MTILRKSHPLMKMVNHAFIDLPTPSNISGWWNFGSLLGLCLIIQIASGLFLAMHYTSDTITAFSSVAHICRDVNYGWLIRYIHANGASLFFICLYLHIGRGIYYGSYMYKETWNIGIMLLFLTMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGSTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAATAMVHLLFLHETGSNNPLGIPSDSDKIPFHPYYTFKDLLGVIIILASFLSFVLFFPDLLGDPDNYSPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVIALVLSILVLALFPLLHTANQRSMMFRPISQFLFWTLVSDLFILTWIGGQPVEPPFIIIGQVASILYFSIILVFLPIAGLIENKVLKW
UniProt ID: Q508K4
Variant: T -> S at position 159-159
Variant annotation: in strain: Isolate LVT 3645
Protein function: Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex) that is part of the mitochondrial respiratory chain. The b-c1 complex mediates electron transfer from ubiquinol to cytochrome c. Contributes to the generation of a proton gradient across the mitochondrial membrane that is then used for ATP synthesis.
Reference sequence:
MTILRKSHPLMKMVNHAFIDLPTPSNISGWWNFGSLLGLCLIIQIASGLFLAMHYTSDTITAFSSVAHICRDVNYGWLIRYIHANGASLFFICLYLHIGRGIYYGSYMYKETWNIGIMLLFLTMATAFMGYVLPWGQMSFWGATVITNLLSAIPYVGSTLVEWIWGGFSVDKATLTRFFAFHFILPFIIAATAMVHLLFLHETGSNNPLGIPSDSDKIPFHPYYTFKDLLGVIIILASFLSFVLFFPDLLGDPDNYSPANPLNTPPHIKPEWYFLFAYAILRSIPNKLGGVIALVLSILVLALFPLLHTANQRSMMFRPISQFLFWTLVSDLFILTWIGGQPVEPPFIIIGQVASILYFSIILVFLPIAGLIENKVLKW