sujigwak/NVAR huggingface dataset:
UniProt ID: Q9GT49
Variant: S -> L at position 564-564
Variant annotation: in strain: Silvio X10/7
Protein function: Bifunctional enzyme which catalyzes the formation of trypanothione (N(1),N(8)-bis(glutathionyl)spermidine) from glutathione and spermidine. Converts spermidine or glutathionylspermidine into trypanothione. Can also convert aminopropylcadaverine into glutothionylaminopropylcadaverine and homotrypanothione. Also has low amidase activity, hydrolyzing trypanothione, homotrypanothione or glutathionylspermidine to form glutathione and the corresponding polyamine.
Reference sequence:
MPTLQSLAVPFGCVQGYAPGGIPAYSNKHESYFSGERSIDGNLFCGFKYQCVEFARRWLFERKSLVLPDVDWAVHIFNLKEVSDARTGKPVRCVAIRNGTAAKPVVDSLLIYPSDDYSPVGHVAAITEVGDKWVRIADQNHRFHKWDANYAAELPLIHEKGVWTILDPLEDEVLKPLGWVTFPDTPDRNPNEPLVLHESLHFKRGELPTLRRLTFTPTSREKDWLDLTNEAEAYFADVCGIDVKNPKLEKASYYQMNRELYLDCAKYGNQLHQMFLEATKFVLGSDELLRLFCIPEEYWPRLRHSWETQPHAITGRFDFAFDEDTQQFKCFEYNADSASTLLECGVIQQKWARSVGLDDGTTYSSGSLVSSRLQLAWEMAEVTGRVHFLIDNDDEEHYTALYVMQHASAAGLETKLCVLFDEFHFDENGVVVDSDGVAVTTVWKTWMWETAIADHQKARVQRGNDWRPTPKDEVRLCDILLGPNWDLRVFEPMWKIIPSNKAILPIIYNKHPDHPALLRASYELTVELQRTGYVRKPIVGRVGRNVTVTEASGDIAAKSDGDFSDRDMVYQELFRLPERDGYYAILGGWVIGDVYCGTGVREDKTIITGLESPFSALRVYQGAQRRPLTHEDLDKAEAAAVGGGLKT
UniProt ID: Q9GT49
Variant: K -> T at position 604-604
Variant annotation: in strain: Silvio X10/7
Protein function: Bifunctional enzyme which catalyzes the formation of trypanothione (N(1),N(8)-bis(glutathionyl)spermidine) from glutathione and spermidine. Converts spermidine or glutathionylspermidine into trypanothione. Can also convert aminopropylcadaverine into glutothionylaminopropylcadaverine and homotrypanothione. Also has low amidase activity, hydrolyzing trypanothione, homotrypanothione or glutathionylspermidine to form glutathione and the corresponding polyamine.
Reference sequence:
MPTLQSLAVPFGCVQGYAPGGIPAYSNKHESYFSGERSIDGNLFCGFKYQCVEFARRWLFERKSLVLPDVDWAVHIFNLKEVSDARTGKPVRCVAIRNGTAAKPVVDSLLIYPSDDYSPVGHVAAITEVGDKWVRIADQNHRFHKWDANYAAELPLIHEKGVWTILDPLEDEVLKPLGWVTFPDTPDRNPNEPLVLHESLHFKRGELPTLRRLTFTPTSREKDWLDLTNEAEAYFADVCGIDVKNPKLEKASYYQMNRELYLDCAKYGNQLHQMFLEATKFVLGSDELLRLFCIPEEYWPRLRHSWETQPHAITGRFDFAFDEDTQQFKCFEYNADSASTLLECGVIQQKWARSVGLDDGTTYSSGSLVSSRLQLAWEMAEVTGRVHFLIDNDDEEHYTALYVMQHASAAGLETKLCVLFDEFHFDENGVVVDSDGVAVTTVWKTWMWETAIADHQKARVQRGNDWRPTPKDEVRLCDILLGPNWDLRVFEPMWKIIPSNKAILPIIYNKHPDHPALLRASYELTVELQRTGYVRKPIVGRVGRNVTVTEASGDIAAKSDGDFSDRDMVYQELFRLPERDGYYAILGGWVIGDVYCGTGVREDKTIITGLESPFSALRVYQGAQRRPLTHEDLDKAEAAAVGGGLKT
UniProt ID: Q9GT49
Variant: S -> I at position 615-615
Variant annotation: in allele TRS-2
Protein function: Bifunctional enzyme which catalyzes the formation of trypanothione (N(1),N(8)-bis(glutathionyl)spermidine) from glutathione and spermidine. Converts spermidine or glutathionylspermidine into trypanothione. Can also convert aminopropylcadaverine into glutothionylaminopropylcadaverine and homotrypanothione. Also has low amidase activity, hydrolyzing trypanothione, homotrypanothione or glutathionylspermidine to form glutathione and the corresponding polyamine.
Reference sequence:
MPTLQSLAVPFGCVQGYAPGGIPAYSNKHESYFSGERSIDGNLFCGFKYQCVEFARRWLFERKSLVLPDVDWAVHIFNLKEVSDARTGKPVRCVAIRNGTAAKPVVDSLLIYPSDDYSPVGHVAAITEVGDKWVRIADQNHRFHKWDANYAAELPLIHEKGVWTILDPLEDEVLKPLGWVTFPDTPDRNPNEPLVLHESLHFKRGELPTLRRLTFTPTSREKDWLDLTNEAEAYFADVCGIDVKNPKLEKASYYQMNRELYLDCAKYGNQLHQMFLEATKFVLGSDELLRLFCIPEEYWPRLRHSWETQPHAITGRFDFAFDEDTQQFKCFEYNADSASTLLECGVIQQKWARSVGLDDGTTYSSGSLVSSRLQLAWEMAEVTGRVHFLIDNDDEEHYTALYVMQHASAAGLETKLCVLFDEFHFDENGVVVDSDGVAVTTVWKTWMWETAIADHQKARVQRGNDWRPTPKDEVRLCDILLGPNWDLRVFEPMWKIIPSNKAILPIIYNKHPDHPALLRASYELTVELQRTGYVRKPIVGRVGRNVTVTEASGDIAAKSDGDFSDRDMVYQELFRLPERDGYYAILGGWVIGDVYCGTGVREDKTIITGLESPFSALRVYQGAQRRPLTHEDLDKAEAAAVGGGLKT
UniProt ID: Q9GT49
Variant: S -> R at position 615-615
Variant annotation: in strain: Silvio X10/7
Protein function: Bifunctional enzyme which catalyzes the formation of trypanothione (N(1),N(8)-bis(glutathionyl)spermidine) from glutathione and spermidine. Converts spermidine or glutathionylspermidine into trypanothione. Can also convert aminopropylcadaverine into glutothionylaminopropylcadaverine and homotrypanothione. Also has low amidase activity, hydrolyzing trypanothione, homotrypanothione or glutathionylspermidine to form glutathione and the corresponding polyamine.
Reference sequence:
MPTLQSLAVPFGCVQGYAPGGIPAYSNKHESYFSGERSIDGNLFCGFKYQCVEFARRWLFERKSLVLPDVDWAVHIFNLKEVSDARTGKPVRCVAIRNGTAAKPVVDSLLIYPSDDYSPVGHVAAITEVGDKWVRIADQNHRFHKWDANYAAELPLIHEKGVWTILDPLEDEVLKPLGWVTFPDTPDRNPNEPLVLHESLHFKRGELPTLRRLTFTPTSREKDWLDLTNEAEAYFADVCGIDVKNPKLEKASYYQMNRELYLDCAKYGNQLHQMFLEATKFVLGSDELLRLFCIPEEYWPRLRHSWETQPHAITGRFDFAFDEDTQQFKCFEYNADSASTLLECGVIQQKWARSVGLDDGTTYSSGSLVSSRLQLAWEMAEVTGRVHFLIDNDDEEHYTALYVMQHASAAGLETKLCVLFDEFHFDENGVVVDSDGVAVTTVWKTWMWETAIADHQKARVQRGNDWRPTPKDEVRLCDILLGPNWDLRVFEPMWKIIPSNKAILPIIYNKHPDHPALLRASYELTVELQRTGYVRKPIVGRVGRNVTVTEASGDIAAKSDGDFSDRDMVYQELFRLPERDGYYAILGGWVIGDVYCGTGVREDKTIITGLESPFSALRVYQGAQRRPLTHEDLDKAEAAAVGGGLKT
UniProt ID: Q9GT49
Variant: Q -> P at position 624-624
Variant annotation: in allele TRS-2
Protein function: Bifunctional enzyme which catalyzes the formation of trypanothione (N(1),N(8)-bis(glutathionyl)spermidine) from glutathione and spermidine. Converts spermidine or glutathionylspermidine into trypanothione. Can also convert aminopropylcadaverine into glutothionylaminopropylcadaverine and homotrypanothione. Also has low amidase activity, hydrolyzing trypanothione, homotrypanothione or glutathionylspermidine to form glutathione and the corresponding polyamine.
Reference sequence:
MPTLQSLAVPFGCVQGYAPGGIPAYSNKHESYFSGERSIDGNLFCGFKYQCVEFARRWLFERKSLVLPDVDWAVHIFNLKEVSDARTGKPVRCVAIRNGTAAKPVVDSLLIYPSDDYSPVGHVAAITEVGDKWVRIADQNHRFHKWDANYAAELPLIHEKGVWTILDPLEDEVLKPLGWVTFPDTPDRNPNEPLVLHESLHFKRGELPTLRRLTFTPTSREKDWLDLTNEAEAYFADVCGIDVKNPKLEKASYYQMNRELYLDCAKYGNQLHQMFLEATKFVLGSDELLRLFCIPEEYWPRLRHSWETQPHAITGRFDFAFDEDTQQFKCFEYNADSASTLLECGVIQQKWARSVGLDDGTTYSSGSLVSSRLQLAWEMAEVTGRVHFLIDNDDEEHYTALYVMQHASAAGLETKLCVLFDEFHFDENGVVVDSDGVAVTTVWKTWMWETAIADHQKARVQRGNDWRPTPKDEVRLCDILLGPNWDLRVFEPMWKIIPSNKAILPIIYNKHPDHPALLRASYELTVELQRTGYVRKPIVGRVGRNVTVTEASGDIAAKSDGDFSDRDMVYQELFRLPERDGYYAILGGWVIGDVYCGTGVREDKTIITGLESPFSALRVYQGAQRRPLTHEDLDKAEAAAVGGGLKT
UniProt ID: Q9GT49
Variant: K -> N at position 635-635
Variant annotation: in strain: Silvio X10/7
Protein function: Bifunctional enzyme which catalyzes the formation of trypanothione (N(1),N(8)-bis(glutathionyl)spermidine) from glutathione and spermidine. Converts spermidine or glutathionylspermidine into trypanothione. Can also convert aminopropylcadaverine into glutothionylaminopropylcadaverine and homotrypanothione. Also has low amidase activity, hydrolyzing trypanothione, homotrypanothione or glutathionylspermidine to form glutathione and the corresponding polyamine.
Reference sequence:
MPTLQSLAVPFGCVQGYAPGGIPAYSNKHESYFSGERSIDGNLFCGFKYQCVEFARRWLFERKSLVLPDVDWAVHIFNLKEVSDARTGKPVRCVAIRNGTAAKPVVDSLLIYPSDDYSPVGHVAAITEVGDKWVRIADQNHRFHKWDANYAAELPLIHEKGVWTILDPLEDEVLKPLGWVTFPDTPDRNPNEPLVLHESLHFKRGELPTLRRLTFTPTSREKDWLDLTNEAEAYFADVCGIDVKNPKLEKASYYQMNRELYLDCAKYGNQLHQMFLEATKFVLGSDELLRLFCIPEEYWPRLRHSWETQPHAITGRFDFAFDEDTQQFKCFEYNADSASTLLECGVIQQKWARSVGLDDGTTYSSGSLVSSRLQLAWEMAEVTGRVHFLIDNDDEEHYTALYVMQHASAAGLETKLCVLFDEFHFDENGVVVDSDGVAVTTVWKTWMWETAIADHQKARVQRGNDWRPTPKDEVRLCDILLGPNWDLRVFEPMWKIIPSNKAILPIIYNKHPDHPALLRASYELTVELQRTGYVRKPIVGRVGRNVTVTEASGDIAAKSDGDFSDRDMVYQELFRLPERDGYYAILGGWVIGDVYCGTGVREDKTIITGLESPFSALRVYQGAQRRPLTHEDLDKAEAAAVGGGLKT
UniProt ID: Q9GV16
Variant: L -> P at position 172-172
Protein function: Hydrolysis of the glycosidic linkage between oligosaccharides and ceramides of glycosphingolipids, especially b-series polysialogangliosides.
Reference sequence:
MAETQPLVFVLMSISAILTAGLPINDDASLLISVNPETQQLVDSLGRERFFHGTNVVVKHKPYHPSVEGYDNTSFSEVDMKILQDLGLNTIRLGMMLPGYVPTRGNYNETYLKIIQEIVSKAAKYGIYTLLDMHQDVMSAKFCVEGFPDWAVNTGNADNFPFPLEDKYPLNLQTGYPYPKDCAKHAWGDYYFTEAAAAAFQNFYNNTDGLLDAWADFWKKTAQGFKDYKSVIGYELINEPFAGDIYRDPSLMIPGVADERNLAPAYDVIHKAIRTVDEQHSIFFEGVTWDYFAAGFSKVPGGDAYRNRSVLSYHYYEPPDFNKKFQFEVRMEDLRRLKCGGFLTELLTVGDTAKDMSDMLELFDICDQHKQSWMGWLYKSYGCYKQHLGCLTDSMHDETGHLRDIVLQNTTRTYPQAVAGHTIGYKFDRITKKFDLSFVVTADCRSTESIVYFNKDLHYSNGYDVTVFPKDSVTWKQVEKKIIINHSQKLSAGTTVTFSLVAK
UniProt ID: Q9GZK3
Variant: A -> P at position 183-183
Variant annotation: in dbSNP:rs9368537
Protein function: Odorant receptor.
Reference sequence:
MNWVNKSVPQEFILLVFSDQPWLEIPPFVMFLFSYILTIFGNLTIILVSHVDFKLHTPMYFFLSNLSLLDLCYTTSTVPQMLVNICNTRKVISYGGCVAQLFIFLALGSTECLLLAVMCFDRFVAICRPLHYSIIMHQRLCFQLAAASWISGFSNSVLQSTWTLKMPLCGHKEVDHFFCEVPALLKLSCVDTTANEAELFFISVLFLLIPVTLILISYAFIVQAVLRIQSAEGQRKAFGTCGSHLIVVSLFYGTAISMYLQPPSPSSKDRGKMVSLFCGIIAPMLNPLIYTLRNKEVKEAFKRLVAKSLLNQEIRNMQMISFAKDTVLTYLTNFSASCPIFVITIENYCNLPQRKFP
UniProt ID: Q9GZK3
Variant: Q -> R at position 234-234
Variant annotation: in allele 6M1-10*02; dbSNP:rs34957169
Protein function: Odorant receptor.
Reference sequence:
MNWVNKSVPQEFILLVFSDQPWLEIPPFVMFLFSYILTIFGNLTIILVSHVDFKLHTPMYFFLSNLSLLDLCYTTSTVPQMLVNICNTRKVISYGGCVAQLFIFLALGSTECLLLAVMCFDRFVAICRPLHYSIIMHQRLCFQLAAASWISGFSNSVLQSTWTLKMPLCGHKEVDHFFCEVPALLKLSCVDTTANEAELFFISVLFLLIPVTLILISYAFIVQAVLRIQSAEGQRKAFGTCGSHLIVVSLFYGTAISMYLQPPSPSSKDRGKMVSLFCGIIAPMLNPLIYTLRNKEVKEAFKRLVAKSLLNQEIRNMQMISFAKDTVLTYLTNFSASCPIFVITIENYCNLPQRKFP
UniProt ID: Q9GZK3
Variant: A -> S at position 300-300
Variant annotation: in dbSNP:rs34788973
Protein function: Odorant receptor.
Reference sequence:
MNWVNKSVPQEFILLVFSDQPWLEIPPFVMFLFSYILTIFGNLTIILVSHVDFKLHTPMYFFLSNLSLLDLCYTTSTVPQMLVNICNTRKVISYGGCVAQLFIFLALGSTECLLLAVMCFDRFVAICRPLHYSIIMHQRLCFQLAAASWISGFSNSVLQSTWTLKMPLCGHKEVDHFFCEVPALLKLSCVDTTANEAELFFISVLFLLIPVTLILISYAFIVQAVLRIQSAEGQRKAFGTCGSHLIVVSLFYGTAISMYLQPPSPSSKDRGKMVSLFCGIIAPMLNPLIYTLRNKEVKEAFKRLVAKSLLNQEIRNMQMISFAKDTVLTYLTNFSASCPIFVITIENYCNLPQRKFP
UniProt ID: Q9GZK6
Variant: L -> I at position 14-14
Variant annotation: in dbSNP:rs3131087
Protein function: Odorant receptor.
Reference sequence:
MLMKKNASFEDFFLLLGFSNWPHLEVVLFVVILIFYLITLIGNLFIIILSYLDSHLHTPMYFFLSNLSFLDLCYTTSSIPQLLVNLWGPEKTISYAGCTVQLYFVLALGTAECVLLVVMSYDRYAAVCRPLHYTVLMHPRFCRLLAAASWVSGFTTSALHSSFTFWIPLCRHRLVDHFFCEVPALLRLSCVDTQANELTLMVMSSIFVLIPLILILTSYGAIARAVLSMQSTTGLQKVLRTCGAHLMVVSLFFIPVMCMYLQPPSENSQDQGKFIALFYTVVTPSLNPLIYTFRNKDVRGAVKRLMGWEWGM
UniProt ID: Q9GZK7
Variant: Y -> C at position 121-121
Variant annotation: in dbSNP:rs16894898
Protein function: Odorant receptor.
Reference sequence:
MEIVSTGNETITEFVLLGFYDIPELHFLFFIVFTAVYVFIIIGNMLIIVAVVSSQRLHKPMYIFLANLSFLDILYTSAVMPKMLEGFLQEATISVAGCLLQFFIFGSLATAECLLLAVMAYDRYLAICYPLHYPLLMGPRRYMGLVVTTWLSGFVVDGLVVALVAQLRFCGPNHIDQFYCDFMLFVGLACSDPRVAQVTTLILSVFCLTIPFGLILTSYARIVVAVLRVPAGASRRRAFSTCSSHLAVVTTFYGTLMIFYVAPSAVHSQLLSKVFSLLYTVVTPLFNPVIYTMRNKEVHQALRKILCIKQTETLD
UniProt ID: Q9GZK7
Variant: A -> T at position 165-165
Variant annotation: in allele 6M1-18*02; dbSNP:rs9257857
Protein function: Odorant receptor.
Reference sequence:
MEIVSTGNETITEFVLLGFYDIPELHFLFFIVFTAVYVFIIIGNMLIIVAVVSSQRLHKPMYIFLANLSFLDILYTSAVMPKMLEGFLQEATISVAGCLLQFFIFGSLATAECLLLAVMAYDRYLAICYPLHYPLLMGPRRYMGLVVTTWLSGFVVDGLVVALVAQLRFCGPNHIDQFYCDFMLFVGLACSDPRVAQVTTLILSVFCLTIPFGLILTSYARIVVAVLRVPAGASRRRAFSTCSSHLAVVTTFYGTLMIFYVAPSAVHSQLLSKVFSLLYTVVTPLFNPVIYTMRNKEVHQALRKILCIKQTETLD
UniProt ID: Q9GZL7
Variant: M -> V at position 72-72
Protein function: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
Reference sequence:
MAQLQTRFYTDNKKYAVDDVPFSIPAASEIADLSNIINKLLKDKNEFHKHVEFDFLIKGQFLRMPLDKHMEMENISSEEVVEIEYVEKYTAPQPEQCMFHDDWISSIKGAEEWILTGSYDKTSRIWSLEGKSIMTIVGHTDVVKDVAWVKKDSLSCLLLSASMDQTILLWEWNVERNKVKALHCCRGHAGSVDSIAVDGSGTKFCSGSWDKMLKIWSTVPTDEEDEMEESTNRPRKKQKTEQLGLTRTPIVTLSGHMEAVSSVLWSDAEEICSASWDHTIRVWDVESGSLKSTLTGNKVFNCISYSPLCKRLASGSTDRHIRLWDPRTKDGSLVSLSLTSHTGWVTSVKWSPTHEQQLISGSLDNIVKLWDTRSCKAPLYDLAAHEDKVLSVDWTDTGLLLSGGADNKLYSYRYSPTTSHVGA
UniProt ID: Q9GZL7
Variant: I -> V at position 75-75
Variant annotation: in dbSNP:rs35212307
Protein function: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
Reference sequence:
MAQLQTRFYTDNKKYAVDDVPFSIPAASEIADLSNIINKLLKDKNEFHKHVEFDFLIKGQFLRMPLDKHMEMENISSEEVVEIEYVEKYTAPQPEQCMFHDDWISSIKGAEEWILTGSYDKTSRIWSLEGKSIMTIVGHTDVVKDVAWVKKDSLSCLLLSASMDQTILLWEWNVERNKVKALHCCRGHAGSVDSIAVDGSGTKFCSGSWDKMLKIWSTVPTDEEDEMEESTNRPRKKQKTEQLGLTRTPIVTLSGHMEAVSSVLWSDAEEICSASWDHTIRVWDVESGSLKSTLTGNKVFNCISYSPLCKRLASGSTDRHIRLWDPRTKDGSLVSLSLTSHTGWVTSVKWSPTHEQQLISGSLDNIVKLWDTRSCKAPLYDLAAHEDKVLSVDWTDTGLLLSGGADNKLYSYRYSPTTSHVGA
UniProt ID: Q9GZL7
Variant: Y -> C at position 89-89
Variant annotation: in dbSNP:rs751438871
Protein function: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
Reference sequence:
MAQLQTRFYTDNKKYAVDDVPFSIPAASEIADLSNIINKLLKDKNEFHKHVEFDFLIKGQFLRMPLDKHMEMENISSEEVVEIEYVEKYTAPQPEQCMFHDDWISSIKGAEEWILTGSYDKTSRIWSLEGKSIMTIVGHTDVVKDVAWVKKDSLSCLLLSASMDQTILLWEWNVERNKVKALHCCRGHAGSVDSIAVDGSGTKFCSGSWDKMLKIWSTVPTDEEDEMEESTNRPRKKQKTEQLGLTRTPIVTLSGHMEAVSSVLWSDAEEICSASWDHTIRVWDVESGSLKSTLTGNKVFNCISYSPLCKRLASGSTDRHIRLWDPRTKDGSLVSLSLTSHTGWVTSVKWSPTHEQQLISGSLDNIVKLWDTRSCKAPLYDLAAHEDKVLSVDWTDTGLLLSGGADNKLYSYRYSPTTSHVGA
UniProt ID: Q9GZL7
Variant: E -> G at position 286-286
Protein function: Component of the PeBoW complex, which is required for maturation of 28S and 5.8S ribosomal RNAs and formation of the 60S ribosome.
Reference sequence:
MAQLQTRFYTDNKKYAVDDVPFSIPAASEIADLSNIINKLLKDKNEFHKHVEFDFLIKGQFLRMPLDKHMEMENISSEEVVEIEYVEKYTAPQPEQCMFHDDWISSIKGAEEWILTGSYDKTSRIWSLEGKSIMTIVGHTDVVKDVAWVKKDSLSCLLLSASMDQTILLWEWNVERNKVKALHCCRGHAGSVDSIAVDGSGTKFCSGSWDKMLKIWSTVPTDEEDEMEESTNRPRKKQKTEQLGLTRTPIVTLSGHMEAVSSVLWSDAEEICSASWDHTIRVWDVESGSLKSTLTGNKVFNCISYSPLCKRLASGSTDRHIRLWDPRTKDGSLVSLSLTSHTGWVTSVKWSPTHEQQLISGSLDNIVKLWDTRSCKAPLYDLAAHEDKVLSVDWTDTGLLLSGGADNKLYSYRYSPTTSHVGA
UniProt ID: Q9GZM5
Variant: A -> V at position 5-5
Variant annotation: in dbSNP:rs2231763
Protein function: Involved in the maintenance of the Golgi structure. May play a role in hematopoiesis.
Reference sequence:
MATTAAPAGGARNGAGPEWGGFEENIQGGGSAVIDMENMDDTSGSSFEDMGELHQRLREEEVDADAADAAAAEEEDGEFLGMKGFKGQLSRQVADQMWQAGKRQASRAFSLYANIDILRPYFDVEPAQVRSRLLESMIPIKMVNFPQKIAGELYGPLMLVFTLVAILLHGMKTSDTIIREGTLMGTAIGTCFGYWLGVSSFIYFLAYLCNAQITMLQMLALLGYGLFGHCIVLFITYNIHLHALFYLFWLLVGGLSTLRMVAVLVSRTVGPTQRLLLCGTLAALHMLFLLYLHFAYHKVVEGILDTLEGPNIPPIQRVPRDIPAMLPAARLPTTVLNATAKAVAVTLQSH
UniProt ID: Q9GZM6
Variant: R -> H at position 122-122
Variant annotation: in dbSNP:rs2512219
Protein function: Odorant receptor (Potential). May be involved in taste perception.
Reference sequence:
MATSNHSSGAEFILAGLTQRPELQLPLFLLFLGIYVVTVVGNLGMIFLIALSSQLYPPVYYFLSHLSFIDLCYSSVITPKMLVNFVPEENIISFLECITQLYFFLIFVIAEGYLLTAMEYDRYVAICRPLLYNIVMSHRVCSIMMAVVYSLGFLWATVHTTRMSVLSFCRSHTVSHYFCDILPLLTLSCSSTHINEILLFIIGGVNTLATTLAVLISYAFIFSSILGIHSTEGQSKAFGTCSSHLLAVGIFFGSITFMYFKPPSSTTMEKEKVSSVFYITIIPMLNPLIYSLRNKDVKNALKKMTRGRQSS
UniProt ID: Q9GZM6
Variant: P -> L at position 263-263
Variant annotation: in dbSNP:rs2466620
Protein function: Odorant receptor (Potential). May be involved in taste perception.
Reference sequence:
MATSNHSSGAEFILAGLTQRPELQLPLFLLFLGIYVVTVVGNLGMIFLIALSSQLYPPVYYFLSHLSFIDLCYSSVITPKMLVNFVPEENIISFLECITQLYFFLIFVIAEGYLLTAMEYDRYVAICRPLLYNIVMSHRVCSIMMAVVYSLGFLWATVHTTRMSVLSFCRSHTVSHYFCDILPLLTLSCSSTHINEILLFIIGGVNTLATTLAVLISYAFIFSSILGIHSTEGQSKAFGTCSSHLLAVGIFFGSITFMYFKPPSSTTMEKEKVSSVFYITIIPMLNPLIYSLRNKDVKNALKKMTRGRQSS
UniProt ID: Q9GZP1
Variant: L -> V at position 41-41
Variant annotation: in dbSNP:rs11556643
Protein function: May play a role in maintenance and/or transport of vesicles.
Reference sequence:
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAALTTGYAVPPKLEGIGEGEFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVEVFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS
UniProt ID: Q9GZP1
Variant: S -> C at position 65-65
Variant annotation: in dbSNP:rs17762763
Protein function: May play a role in maintenance and/or transport of vesicles.
Reference sequence:
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAALTTGYAVPPKLEGIGEGEFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVEVFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS
UniProt ID: Q9GZP1
Variant: E -> Q at position 160-160
Variant annotation: in dbSNP:rs35731713
Protein function: May play a role in maintenance and/or transport of vesicles.
Reference sequence:
MMPSCNRSCSCSRGPSVEDGKWYGVRSYLHLFYEDCAGTALSDDPEGPPVLCPRRPWPSLCWKISLSSGTLLLLLGVAALTTGYAVPPKLEGIGEGEFLVLDQRAADYNQALGTCRLAGTALCVAAGVLLAICLFWAMIGWLSQDTKAEPLDPEADSHVEVFGDEPEQQLSPIFRNASGQSWFSPPASPFGQSSVQTIQPKRDS
UniProt ID: Q9GZQ4
Variant: S -> T at position 298-298
Variant annotation: in dbSNP:rs4958535
Protein function: Receptor for the neuromedin-U and neuromedin-S neuropeptides.
Reference sequence:
MSGMEKLQNASWIYQQKLEDPFQKHLNSTEEYLAFLCGPRRSHFFLPVSVVYVPIFVVGVIGNVLVCLVILQHQAMKTPTNYYLFSLAVSDLLVLLLGMPLEVYEMWRNYPFLFGPVGCYFKTALFETVCFASILSITTVSVERYVAILHPFRAKLQSTRRRALRILGIVWGFSVLFSLPNTSIHGIKFHYFPNGSLVPGSATCTVIKPMWIYNFIIQVTSFLFYLLPMTVISVLYYLMALRLKKDKSLEADEGNANIQRPCRKSVNKMLFVLVLVFAICWAPFHIDRLFFSFVEEWSESLAAVFNLVHVVSGVFFYLSSAVNPIIYNLLSRRFQAAFQNVISSFHKQWHSQHDPQLPPAQRNIFLTECHFVELTEDIGPQFPCQSSMHNSHLPAALSSEQMSRTNYQSFHFNKT
UniProt ID: Q9GZQ4
Variant: F -> L at position 315-315
Variant annotation: in dbSNP:rs1895245
Protein function: Receptor for the neuromedin-U and neuromedin-S neuropeptides.
Reference sequence:
MSGMEKLQNASWIYQQKLEDPFQKHLNSTEEYLAFLCGPRRSHFFLPVSVVYVPIFVVGVIGNVLVCLVILQHQAMKTPTNYYLFSLAVSDLLVLLLGMPLEVYEMWRNYPFLFGPVGCYFKTALFETVCFASILSITTVSVERYVAILHPFRAKLQSTRRRALRILGIVWGFSVLFSLPNTSIHGIKFHYFPNGSLVPGSATCTVIKPMWIYNFIIQVTSFLFYLLPMTVISVLYYLMALRLKKDKSLEADEGNANIQRPCRKSVNKMLFVLVLVFAICWAPFHIDRLFFSFVEEWSESLAAVFNLVHVVSGVFFYLSSAVNPIIYNLLSRRFQAAFQNVISSFHKQWHSQHDPQLPPAQRNIFLTECHFVELTEDIGPQFPCQSSMHNSHLPAALSSEQMSRTNYQSFHFNKT
UniProt ID: Q9GZQ4
Variant: P -> L at position 383-383
Variant annotation: in dbSNP:rs4958532
Protein function: Receptor for the neuromedin-U and neuromedin-S neuropeptides.
Reference sequence:
MSGMEKLQNASWIYQQKLEDPFQKHLNSTEEYLAFLCGPRRSHFFLPVSVVYVPIFVVGVIGNVLVCLVILQHQAMKTPTNYYLFSLAVSDLLVLLLGMPLEVYEMWRNYPFLFGPVGCYFKTALFETVCFASILSITTVSVERYVAILHPFRAKLQSTRRRALRILGIVWGFSVLFSLPNTSIHGIKFHYFPNGSLVPGSATCTVIKPMWIYNFIIQVTSFLFYLLPMTVISVLYYLMALRLKKDKSLEADEGNANIQRPCRKSVNKMLFVLVLVFAICWAPFHIDRLFFSFVEEWSESLAAVFNLVHVVSGVFFYLSSAVNPIIYNLLSRRFQAAFQNVISSFHKQWHSQHDPQLPPAQRNIFLTECHFVELTEDIGPQFPCQSSMHNSHLPAALSSEQMSRTNYQSFHFNKT
UniProt ID: Q9GZQ4
Variant: M -> V at position 388-388
Variant annotation: in dbSNP:rs4958531
Protein function: Receptor for the neuromedin-U and neuromedin-S neuropeptides.
Reference sequence:
MSGMEKLQNASWIYQQKLEDPFQKHLNSTEEYLAFLCGPRRSHFFLPVSVVYVPIFVVGVIGNVLVCLVILQHQAMKTPTNYYLFSLAVSDLLVLLLGMPLEVYEMWRNYPFLFGPVGCYFKTALFETVCFASILSITTVSVERYVAILHPFRAKLQSTRRRALRILGIVWGFSVLFSLPNTSIHGIKFHYFPNGSLVPGSATCTVIKPMWIYNFIIQVTSFLFYLLPMTVISVLYYLMALRLKKDKSLEADEGNANIQRPCRKSVNKMLFVLVLVFAICWAPFHIDRLFFSFVEEWSESLAAVFNLVHVVSGVFFYLSSAVNPIIYNLLSRRFQAAFQNVISSFHKQWHSQHDPQLPPAQRNIFLTECHFVELTEDIGPQFPCQSSMHNSHLPAALSSEQMSRTNYQSFHFNKT
UniProt ID: Q9GZQ4
Variant: A -> T at position 395-395
Variant annotation: in dbSNP:rs1363422
Protein function: Receptor for the neuromedin-U and neuromedin-S neuropeptides.
Reference sequence:
MSGMEKLQNASWIYQQKLEDPFQKHLNSTEEYLAFLCGPRRSHFFLPVSVVYVPIFVVGVIGNVLVCLVILQHQAMKTPTNYYLFSLAVSDLLVLLLGMPLEVYEMWRNYPFLFGPVGCYFKTALFETVCFASILSITTVSVERYVAILHPFRAKLQSTRRRALRILGIVWGFSVLFSLPNTSIHGIKFHYFPNGSLVPGSATCTVIKPMWIYNFIIQVTSFLFYLLPMTVISVLYYLMALRLKKDKSLEADEGNANIQRPCRKSVNKMLFVLVLVFAICWAPFHIDRLFFSFVEEWSESLAAVFNLVHVVSGVFFYLSSAVNPIIYNLLSRRFQAAFQNVISSFHKQWHSQHDPQLPPAQRNIFLTECHFVELTEDIGPQFPCQSSMHNSHLPAALSSEQMSRTNYQSFHFNKT
UniProt ID: Q9GZQ6
Variant: I -> L at position 145-145
Variant annotation: in dbSNP:rs3812694
Protein function: Receptor for NPAF (A-18-F-amide) and NPFF (F-8-F-amide) neuropeptides, also known as morphine-modulating peptides. Can also be activated by a variety of naturally occurring or synthetic FMRF-amide like ligands. This receptor mediates its action by association with G proteins that activate a phosphatidylinositol-calcium second messenger system.
Reference sequence:
MEGEPSQPPNSSWPLSQNGTNTEATPATNLTFSSYYQHTSPVAAMFIVAYALIFLLCMVGNTLVCFIVLKNRHMHTVTNMFILNLAVSDLLVGIFCMPTTLVDNLITGWPFDNATCKMSGLVQGMSVSASVFTLVAIAVERFRCIVHPFREKLTLRKALVTIAVIWALALLIMCPSAVTLTVTREEHHFMVDARNRSYPLYSCWEAWPEKGMRRVYTTVLFSHIYLAPLALIVVMYARIARKLCQAPGPAPGGEEAADPRASRRRARVVHMLVMVALFFTLSWLPLWALLLLIDYGQLSAPQLHLVTVYAFPFAHWLAFFNSSANPIIYGYFNENFRRGFQAAFRARLCPRPSGSHKEAYSERPGGLLHRRVFVVVRPSDSGLPSESGPSSGAPRPGRLPLRNGRVAHHGLPREGPGCSHLPLTIPAWDI
UniProt ID: Q9GZR1
Variant: T -> M at position 121-121
Variant annotation: in dbSNP:rs17414086
Protein function: Protease that deconjugates SUMO1, SUMO2 and SUMO3 from targeted proteins. Processes preferentially poly-SUMO2 and poly-SUMO3 chains, but does not efficiently process SUMO1, SUMO2 and SUMO3 precursors. Deconjugates SUMO1 from RXRA, leading to transcriptional activation. Involved in chromosome alignment and spindle assembly, by regulating the kinetochore CENPH-CENPI-CENPK complex. Desumoylates PML and CENPI, protecting them from degradation by the ubiquitin ligase RNF4, which targets polysumoylated proteins for proteasomal degradation. Desumoylates also RPA1, thus preventing recruitment of RAD51 to the DNA damage foci to initiate DNA repair through homologous recombination.
Reference sequence:
MAAGKSGGSAGEITFLEALARSESKRDGGFKNNWSFDHEEESEGDTDKDGTNLLSVDEDEDSETSKGKKLNRRSEIVANSSGEFILKTYVRRNKSESFKTLKGNPIGLNMLSNNKKLSENTQNTSLCSGTVVHGRRFHHAHAQIPVVKTAAQSSLDRKERKEYPPHVQKVEINPVRLSRLQGVERIMKKTEESESQVEPEIKRKVQQKRHCSTYQPTPPLSPASKKCLTHLEDLQRNCRQAITLNESTGPLLRTSIHQNSGGQKSQNTGLTTKKFYGNNVEKVPIDIIVNCDDSKHTYLQTNGKVILPGAKIPKITNLKERKTSLSDLNDPIILSSDDDDDNDRTNRRESISPQPADSACSSPAPSTGKVEAALNENTCRAERELRSIPEDSELNTVTLPRKARMKDQFGNSIINTPLKRRKVFSQEPPDALALSCQSSFDSVILNCRSIRVGTLFRLLIEPVIFCLDFIKIQLDEPDHDPVEIILNTSDLTKCEWCNVRKLPVVFLQAIPAVYQKLSIQLQMNKEDKVWNDCKGVNKLTNLEEQYIILIFQNGLDPPANMVFESIINEIGIKNNISNFFAKIPFEEANGRLVACTRTYEESIKGSCGQKENKIKTVSFESKIQLRSKQEFQFFDEEEETGENHTIFIGPVEKLIVYPPPPAKGGISVTNEDLHCLNEGEFLNDVIIDFYLKYLVLEKLKKEDADRIHIFSSFFYKRLNQRERRNHETTNLSIQQKRHGRVKTWTRHVDIFEKDFIFVPLNEAAHWFLAVVCFPGLEKPKYEPNPHYHENAVIQKCSTVEDSCISSSASEMESCSQNSSAKPVIKKMLNKKHCIAVIDSNPGQEESDPRYKRNICSVKYSVKKINHTASENEEFNKGESTSQKVADRTKSENGLQNESLSSTHHTDGLSKIRLNYSDESPEAGKMLEDELVDFSEDQDNQDDSSDDGFLADDNCSSEIGQWHLKPTICKQPCILLMDSLRGPSRSNVVKILREYLEVEWEVKKGSKRSFSKDVMKGSNPKVPQQNNFSDCGVYVLQYVESFFENPILSFELPMNLANWFPPPRMRTKREEIRNIILKLQEDQSKEKRKHKDTYSTEAPLGEGTEQYVNSISD
UniProt ID: Q9GZR1
Variant: E -> K at position 637-637
Variant annotation: in dbSNP:rs1061347
Protein function: Protease that deconjugates SUMO1, SUMO2 and SUMO3 from targeted proteins. Processes preferentially poly-SUMO2 and poly-SUMO3 chains, but does not efficiently process SUMO1, SUMO2 and SUMO3 precursors. Deconjugates SUMO1 from RXRA, leading to transcriptional activation. Involved in chromosome alignment and spindle assembly, by regulating the kinetochore CENPH-CENPI-CENPK complex. Desumoylates PML and CENPI, protecting them from degradation by the ubiquitin ligase RNF4, which targets polysumoylated proteins for proteasomal degradation. Desumoylates also RPA1, thus preventing recruitment of RAD51 to the DNA damage foci to initiate DNA repair through homologous recombination.
Reference sequence:
MAAGKSGGSAGEITFLEALARSESKRDGGFKNNWSFDHEEESEGDTDKDGTNLLSVDEDEDSETSKGKKLNRRSEIVANSSGEFILKTYVRRNKSESFKTLKGNPIGLNMLSNNKKLSENTQNTSLCSGTVVHGRRFHHAHAQIPVVKTAAQSSLDRKERKEYPPHVQKVEINPVRLSRLQGVERIMKKTEESESQVEPEIKRKVQQKRHCSTYQPTPPLSPASKKCLTHLEDLQRNCRQAITLNESTGPLLRTSIHQNSGGQKSQNTGLTTKKFYGNNVEKVPIDIIVNCDDSKHTYLQTNGKVILPGAKIPKITNLKERKTSLSDLNDPIILSSDDDDDNDRTNRRESISPQPADSACSSPAPSTGKVEAALNENTCRAERELRSIPEDSELNTVTLPRKARMKDQFGNSIINTPLKRRKVFSQEPPDALALSCQSSFDSVILNCRSIRVGTLFRLLIEPVIFCLDFIKIQLDEPDHDPVEIILNTSDLTKCEWCNVRKLPVVFLQAIPAVYQKLSIQLQMNKEDKVWNDCKGVNKLTNLEEQYIILIFQNGLDPPANMVFESIINEIGIKNNISNFFAKIPFEEANGRLVACTRTYEESIKGSCGQKENKIKTVSFESKIQLRSKQEFQFFDEEEETGENHTIFIGPVEKLIVYPPPPAKGGISVTNEDLHCLNEGEFLNDVIIDFYLKYLVLEKLKKEDADRIHIFSSFFYKRLNQRERRNHETTNLSIQQKRHGRVKTWTRHVDIFEKDFIFVPLNEAAHWFLAVVCFPGLEKPKYEPNPHYHENAVIQKCSTVEDSCISSSASEMESCSQNSSAKPVIKKMLNKKHCIAVIDSNPGQEESDPRYKRNICSVKYSVKKINHTASENEEFNKGESTSQKVADRTKSENGLQNESLSSTHHTDGLSKIRLNYSDESPEAGKMLEDELVDFSEDQDNQDDSSDDGFLADDNCSSEIGQWHLKPTICKQPCILLMDSLRGPSRSNVVKILREYLEVEWEVKKGSKRSFSKDVMKGSNPKVPQQNNFSDCGVYVLQYVESFFENPILSFELPMNLANWFPPPRMRTKREEIRNIILKLQEDQSKEKRKHKDTYSTEAPLGEGTEQYVNSISD