sujigwak/NVAR huggingface dataset:
UniProt ID: Q01973
Variant: Y -> C at position 646-646
Variant annotation: in dbSNP:rs34109134
Protein function: Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo . Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling . In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells .
Reference sequence:
MHRPRRRGTRPPLLALLAALLLAARGAAAQETELSVSAELVPTSSWNISSELNKDSYLTLDEPMNNITTSLGQTAELHCKVSGNPPPTIRWFKNDAPVVQEPRRLSFRSTIYGSRLRIRNLDTTDTGYFQCVATNGKEVVSSTGVLFVKFGPPPTASPGYSDEYEEDGFCQPYRGIACARFIGNRTVYMESLHMQGEIENQITAAFTMIGTSSHLSDKCSQFAIPSLCHYAFPYCDETSSVPKPRDLCRDECEILENVLCQTEYIFARSNPMILMRLKLPNCEDLPQPESPEAANCIRIGIPMADPINKNHKCYNSTGVDYRGTVSVTKSGRQCQPWNSQYPHTHTFTALRFPELNGGHSYCRNPGNQKEAPWCFTLDENFKSDLCDIPACDSKDSKEKNKMEILYILVPSVAIPLAIALLFFFICVCRNNQKSSSAPVQRQPKHVRGQNVEMSMLNAYKPKSKAKELPLSAVRFMEELGECAFGKIYKGHLYLPGMDHAQLVAIKTLKDYNNPQQWTEFQQEASLMAELHHPNIVCLLGAVTQEQPVCMLFEYINQGDLHEFLIMRSPHSDVGCSSDEDGTVKSSLDHGDFLHIAIQIAAGMEYLSSHFFVHKDLAARNILIGEQLHVKISDLGLSREIYSADYYRVQSKSLLPIRWMPPEAIMYGKFSSDSDIWSFGVVLWEIFSFGLQPYYGFSNQEVIEMVRKRQLLPCSEDCPPRMYSLMTECWNEIPSRRPRFKDIHVRLRSWEGLSSHTSSTTPSGGNATTQTTSLSASPVSNLSNPRYPNYMFPSQGITPQGQIAGFIGPPIPQNQRFIPINGYPIPPGYAAFPAAHYQPTGPPRVIQHCPPPKSRSPSSASGSTSTGHVTSLPSSGSNQEANIPLLPHMSIPNHPGGMGITVFGNKSQKPYKIDSKQASLLGDANIHGHTESMISAEL
UniProt ID: Q01973
Variant: R -> T at position 736-736
Variant annotation: in DFNB108; impairs plasma membrane location; abolishes downstream NFkB activation; dbSNP:rs1553163562
Protein function: Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo . Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling . In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells .
Reference sequence:
MHRPRRRGTRPPLLALLAALLLAARGAAAQETELSVSAELVPTSSWNISSELNKDSYLTLDEPMNNITTSLGQTAELHCKVSGNPPPTIRWFKNDAPVVQEPRRLSFRSTIYGSRLRIRNLDTTDTGYFQCVATNGKEVVSSTGVLFVKFGPPPTASPGYSDEYEEDGFCQPYRGIACARFIGNRTVYMESLHMQGEIENQITAAFTMIGTSSHLSDKCSQFAIPSLCHYAFPYCDETSSVPKPRDLCRDECEILENVLCQTEYIFARSNPMILMRLKLPNCEDLPQPESPEAANCIRIGIPMADPINKNHKCYNSTGVDYRGTVSVTKSGRQCQPWNSQYPHTHTFTALRFPELNGGHSYCRNPGNQKEAPWCFTLDENFKSDLCDIPACDSKDSKEKNKMEILYILVPSVAIPLAIALLFFFICVCRNNQKSSSAPVQRQPKHVRGQNVEMSMLNAYKPKSKAKELPLSAVRFMEELGECAFGKIYKGHLYLPGMDHAQLVAIKTLKDYNNPQQWTEFQQEASLMAELHHPNIVCLLGAVTQEQPVCMLFEYINQGDLHEFLIMRSPHSDVGCSSDEDGTVKSSLDHGDFLHIAIQIAAGMEYLSSHFFVHKDLAARNILIGEQLHVKISDLGLSREIYSADYYRVQSKSLLPIRWMPPEAIMYGKFSSDSDIWSFGVVLWEIFSFGLQPYYGFSNQEVIEMVRKRQLLPCSEDCPPRMYSLMTECWNEIPSRRPRFKDIHVRLRSWEGLSSHTSSTTPSGGNATTQTTSLSASPVSNLSNPRYPNYMFPSQGITPQGQIAGFIGPPIPQNQRFIPINGYPIPPGYAAFPAAHYQPTGPPRVIQHCPPPKSRSPSSASGSTSTGHVTSLPSSGSNQEANIPLLPHMSIPNHPGGMGITVFGNKSQKPYKIDSKQASLLGDANIHGHTESMISAEL
UniProt ID: Q01973
Variant: S -> N at position 776-776
Variant annotation: in a colorectal adenocarcinoma sample; somatic mutation
Protein function: Has very low kinase activity in vitro and is unlikely to function as a tyrosine kinase in vivo . Receptor for ligand WNT5A which activate downstream NFkB signaling pathway and may result in the inhibition of WNT3A-mediated signaling . In inner ear, crucial for spiral ganglion neurons to innervate auditory hair cells .
Reference sequence:
MHRPRRRGTRPPLLALLAALLLAARGAAAQETELSVSAELVPTSSWNISSELNKDSYLTLDEPMNNITTSLGQTAELHCKVSGNPPPTIRWFKNDAPVVQEPRRLSFRSTIYGSRLRIRNLDTTDTGYFQCVATNGKEVVSSTGVLFVKFGPPPTASPGYSDEYEEDGFCQPYRGIACARFIGNRTVYMESLHMQGEIENQITAAFTMIGTSSHLSDKCSQFAIPSLCHYAFPYCDETSSVPKPRDLCRDECEILENVLCQTEYIFARSNPMILMRLKLPNCEDLPQPESPEAANCIRIGIPMADPINKNHKCYNSTGVDYRGTVSVTKSGRQCQPWNSQYPHTHTFTALRFPELNGGHSYCRNPGNQKEAPWCFTLDENFKSDLCDIPACDSKDSKEKNKMEILYILVPSVAIPLAIALLFFFICVCRNNQKSSSAPVQRQPKHVRGQNVEMSMLNAYKPKSKAKELPLSAVRFMEELGECAFGKIYKGHLYLPGMDHAQLVAIKTLKDYNNPQQWTEFQQEASLMAELHHPNIVCLLGAVTQEQPVCMLFEYINQGDLHEFLIMRSPHSDVGCSSDEDGTVKSSLDHGDFLHIAIQIAAGMEYLSSHFFVHKDLAARNILIGEQLHVKISDLGLSREIYSADYYRVQSKSLLPIRWMPPEAIMYGKFSSDSDIWSFGVVLWEIFSFGLQPYYGFSNQEVIEMVRKRQLLPCSEDCPPRMYSLMTECWNEIPSRRPRFKDIHVRLRSWEGLSSHTSSTTPSGGNATTQTTSLSASPVSNLSNPRYPNYMFPSQGITPQGQIAGFIGPPIPQNQRFIPINGYPIPPGYAAFPAAHYQPTGPPRVIQHCPPPKSRSPSSASGSTSTGHVTSLPSSGSNQEANIPLLPHMSIPNHPGGMGITVFGNKSQKPYKIDSKQASLLGDANIHGHTESMISAEL
UniProt ID: Q01J96
Variant: HLQQAC -> QPC at position 418-423
Variant annotation: in strain: cv. Pin Gaew 53
Protein function: Involved in the control of the cell cycle at the G2/M (mitosis) transition. May activate CDKB2-1 kinase.
Reference sequence:
MDRASENRRLAAVGKPVPGIGEMGNRRPLRDINNLVGAPPHPSAIAKKPMLEKSGKEEQKPALVVSHRPMTRNFAASLTRKEQLDHQVSVADAAVVCTDPQKNPIPDGTVDDDVESCESNDYIAVDECNDTDEDESMMDIDSADSGNPLAATEYVEELYKFYRENEEMSCVQPDYMSSQGDINEKMRAILIDWLIEVHHKFELMDETLFLTVNIVDRFLEKQVVPRKKLQLVGVTAMLLACKYEEVAVPVVEDLVLISDRAYTKGQILEMEKLILNTLQFNMSVPTPYVFMRRFLKAAQSDKQLQLLSFFILELSLVEYQMLKYRPSLLAAAAVYTAQCALTRCQQWTKTCELHSRYTGEQLLECSRMMVDFHQKAGAGKLTGVHRKYSTFKFGCAAKTEPALFLLESGAGGYNLQKHLQQAC
UniProt ID: Q02040
Variant: P -> S at position 194-194
Variant annotation: in dbSNP:rs17852504
Protein function: Splice factor regulating alternative splice site selection for certain mRNA precursors. Mediates regulation of pre-mRNA splicing in a PKA-dependent manner.
Reference sequence:
MAAATIVHDTSEAVELCPAYGLYLKPITKMTISVALPQLKQPGKSISNWEVMERLKGMVQNHQFSTLRISKSTMDFIRFEGEVENKSLVKSFLACLDGKTIKLSGFSDILKVRAAEFKIDFPTRHDWDSFFRDAKDMNETLPGERPDTIHLEGLPCKWFALKESGSEKPSEDVLVKVFEKFGEIRNVDIPMLDPYREEMTGRNFHTFSFGGHLNFEAYVQYREYMGFIQAMSALRGMKLMYKGEDGKAVACNIKVSFDSTKHLSDASIKKRQLERQKLQELEQQREEQKRREKEAEERQRAEERKQKELEELERERKREEKLRKREQKQRDRELRRNQKKLEKLQAEEQKQLQEKIKLEERKLLLAQRNLQSIRLIAELLSRAKAVKLREQEQKEEKLRLQQQEERRRLQEAELRRVEEEKERALGLQRKERELRERLLSILLSKKPDDSHTHDELGVAHADLLQPVLDILQTVSSGCVSATTLHPLGGQPPAGAPKESPAHPEADGAPKSVNGSVAEEAPCKEVQSSCRVVPEDGSPEKRCPGGVLSCIPDNNQQPKGIPACEQNVSRKDTRSEQDKCNREPSKGRGRATGDGLADRHKRERSRARRASSREDGRPRKERRPHKKHAYKDDSPRRRSTSPDHTRSRRSHSKDRHRRERSRERRGSASRKHSRHRRRSERSRSRSPSRHRSTWNR
UniProt ID: Q02078
Variant: N -> S at position 263-263
Variant annotation: in dbSNP:rs121918530
Protein function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.
Reference sequence:
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVEALNKKEHRGCDSPDPDTSYVLTPHTEEKYKKINEEFDNMMRNHKIAPGLPPQNFSMSVTVPVTSPNALSYTNPGSSLVSPSLAASSTLTDSSMLSPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPVGNGFVNSRASPNLIGATGANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQRISSSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLSLGQVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQQQQQQQQQPPPPPQPQPQPPQPQPRQEMGRSPVDSLSSSSSSYDGSDREDPRGDFHSPIVLGRPPNTEDRESPSVKRMRMDAWVT
UniProt ID: Q02078
Variant: P -> L at position 279-279
Variant annotation: in dbSNP:rs121918529
Protein function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.
Reference sequence:
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVEALNKKEHRGCDSPDPDTSYVLTPHTEEKYKKINEEFDNMMRNHKIAPGLPPQNFSMSVTVPVTSPNALSYTNPGSSLVSPSLAASSTLTDSSMLSPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPVGNGFVNSRASPNLIGATGANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQRISSSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLSLGQVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQQQQQQQQQPPPPPQPQPQPPQPQPRQEMGRSPVDSLSSSSSSYDGSDREDPRGDFHSPIVLGRPPNTEDRESPSVKRMRMDAWVT
UniProt ID: Q02078
Variant: G -> D at position 283-283
Variant annotation: in dbSNP:rs121918531
Protein function: Transcriptional activator which binds specifically to the MEF2 element, 5'-YTA[AT](4)TAR-3', found in numerous muscle-specific genes. Also involved in the activation of numerous growth factor- and stress-induced genes. Mediates cellular functions not only in skeletal and cardiac muscle development, but also in neuronal differentiation and survival. Plays diverse roles in the control of cell growth, survival and apoptosis via p38 MAPK signaling in muscle-specific and/or growth factor-related transcription. In cerebellar granule neurons, phosphorylated and sumoylated MEF2A represses transcription of NUR77 promoting synaptic differentiation. Associates with chromatin to the ZNF16 promoter.
Reference sequence:
MGRKKIQITRIMDERNRQVTFTKRKFGLMKKAYELSVLCDCEIALIIFNSSNKLFQYASTDMDKVLLKYTEYNEPHESRTNSDIVEALNKKEHRGCDSPDPDTSYVLTPHTEEKYKKINEEFDNMMRNHKIAPGLPPQNFSMSVTVPVTSPNALSYTNPGSSLVSPSLAASSTLTDSSMLSPPQTTLHRNVSPGAPQRPPSTGNAGGMLSTTDLTVPNGAGSSPVGNGFVNSRASPNLIGATGANSLGKVMPTKSPPPPGGGNLGMNSRKPDLRVVIPPSSKGMMPPLSEEEELELNTQRISSSQATQPLATPVVSVTTPSLPPQGLVYSAMPTAYNTDYSLTSADLSALQGFNSPGMLSLGQVSAWQQHHLGQAALSSLVAGGQLSQGSNLSINTNQNISIKSEPISPPRDRMTPSGFQQQQQQQQQQQPPPPPQPQPQPPQPQPRQEMGRSPVDSLSSSSSSYDGSDREDPRGDFHSPIVLGRPPNTEDRESPSVKRMRMDAWVT
UniProt ID: Q02079
Variant: D -> N at position 159-159
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MARTTFLVSVSLFVSAVLARTVEYNLKISNGKIAPDGVERDATLVNGGYPGPLIFANKGDTLKVKVQNKLTNPDMYRTTSIHWHGLLQHRNADDDGPAFVTQCPIVPQASYTYTMPLGDQTGTYWYHSHLSSQYVDGLRGPLVIYDPKDPHRRLYDIDDEKTVLIIGDWYHTSSKAILATGNITLQQPDSATINGKGRFDPDNTPANPNTLYTLKVKRGKRYRLRVINSSAIASFRMSIQGHKMTVIAADGVSTKPYQVDSFDILAGQRIDAVVEANQEPDTYWINAPLTNVANKTAQALLIYEDDRRPYHPPKGPYRKWSVSEAIIKYWKHKHGRGLLSGHGGLKARMMEGSLHLHGRRDIVKRQNETTTVVMDETKLVPLEHPGAACGSKPADLVIDLTFGVNFTTGHWMINGIPHKSPDMPTLLKILTDTDGVTESDFTQPEHTIILPKNKCVEFNIKGNSGLGIVHPIHLHGHTFDVVQFGNNPPNYVNPPRRDVVGATDEGVRFQFKTDNPGPWFLHCHIDWHLEEGFAMVFAEAPEAIKGGPKSVPVDRQWKDLCRKYGSLPAGFL
UniProt ID: Q02079
Variant: R -> H at position 359-359
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MARTTFLVSVSLFVSAVLARTVEYNLKISNGKIAPDGVERDATLVNGGYPGPLIFANKGDTLKVKVQNKLTNPDMYRTTSIHWHGLLQHRNADDDGPAFVTQCPIVPQASYTYTMPLGDQTGTYWYHSHLSSQYVDGLRGPLVIYDPKDPHRRLYDIDDEKTVLIIGDWYHTSSKAILATGNITLQQPDSATINGKGRFDPDNTPANPNTLYTLKVKRGKRYRLRVINSSAIASFRMSIQGHKMTVIAADGVSTKPYQVDSFDILAGQRIDAVVEANQEPDTYWINAPLTNVANKTAQALLIYEDDRRPYHPPKGPYRKWSVSEAIIKYWKHKHGRGLLSGHGGLKARMMEGSLHLHGRRDIVKRQNETTTVVMDETKLVPLEHPGAACGSKPADLVIDLTFGVNFTTGHWMINGIPHKSPDMPTLLKILTDTDGVTESDFTQPEHTIILPKNKCVEFNIKGNSGLGIVHPIHLHGHTFDVVQFGNNPPNYVNPPRRDVVGATDEGVRFQFKTDNPGPWFLHCHIDWHLEEGFAMVFAEAPEAIKGGPKSVPVDRQWKDLCRKYGSLPAGFL
UniProt ID: Q02079
Variant: H -> Y at position 418-418
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MARTTFLVSVSLFVSAVLARTVEYNLKISNGKIAPDGVERDATLVNGGYPGPLIFANKGDTLKVKVQNKLTNPDMYRTTSIHWHGLLQHRNADDDGPAFVTQCPIVPQASYTYTMPLGDQTGTYWYHSHLSSQYVDGLRGPLVIYDPKDPHRRLYDIDDEKTVLIIGDWYHTSSKAILATGNITLQQPDSATINGKGRFDPDNTPANPNTLYTLKVKRGKRYRLRVINSSAIASFRMSIQGHKMTVIAADGVSTKPYQVDSFDILAGQRIDAVVEANQEPDTYWINAPLTNVANKTAQALLIYEDDRRPYHPPKGPYRKWSVSEAIIKYWKHKHGRGLLSGHGGLKARMMEGSLHLHGRRDIVKRQNETTTVVMDETKLVPLEHPGAACGSKPADLVIDLTFGVNFTTGHWMINGIPHKSPDMPTLLKILTDTDGVTESDFTQPEHTIILPKNKCVEFNIKGNSGLGIVHPIHLHGHTFDVVQFGNNPPNYVNPPRRDVVGATDEGVRFQFKTDNPGPWFLHCHIDWHLEEGFAMVFAEAPEAIKGGPKSVPVDRQWKDLCRKYGSLPAGFL
UniProt ID: Q02079
Variant: I -> V at position 448-448
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MARTTFLVSVSLFVSAVLARTVEYNLKISNGKIAPDGVERDATLVNGGYPGPLIFANKGDTLKVKVQNKLTNPDMYRTTSIHWHGLLQHRNADDDGPAFVTQCPIVPQASYTYTMPLGDQTGTYWYHSHLSSQYVDGLRGPLVIYDPKDPHRRLYDIDDEKTVLIIGDWYHTSSKAILATGNITLQQPDSATINGKGRFDPDNTPANPNTLYTLKVKRGKRYRLRVINSSAIASFRMSIQGHKMTVIAADGVSTKPYQVDSFDILAGQRIDAVVEANQEPDTYWINAPLTNVANKTAQALLIYEDDRRPYHPPKGPYRKWSVSEAIIKYWKHKHGRGLLSGHGGLKARMMEGSLHLHGRRDIVKRQNETTTVVMDETKLVPLEHPGAACGSKPADLVIDLTFGVNFTTGHWMINGIPHKSPDMPTLLKILTDTDGVTESDFTQPEHTIILPKNKCVEFNIKGNSGLGIVHPIHLHGHTFDVVQFGNNPPNYVNPPRRDVVGATDEGVRFQFKTDNPGPWFLHCHIDWHLEEGFAMVFAEAPEAIKGGPKSVPVDRQWKDLCRKYGSLPAGFL
UniProt ID: Q02081
Variant: P -> S at position 42-42
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MLSSITLLPLLAAVSTPAFAAVRNYKFDIKNVNVAPDGFQRPIVSVNGLVPGTLITANKGDTLRINVTNQLTDPSMRRATTIHWHGLFQATTADEDGPAFVTQCPIAQNLSYTYEIPLHGQTGTMWYHAHLASQYVDGLRGPLVIYDPNDPHKSRYDVDDASTVVMLEDWYHTPAPVLEKQMFSTNNTALLSPVPDSGLINGKGRYVGGPAVPRSVINVKRGKRYRLRVINASAIGSFTFSIEGHRLTVIEADGIPHQPLPVDSFQIYAGQRYSVIVEANQTAANYWIRAPMTVAGAGTNANLDPTNVFAVLHYEGAPNAEPTTEQGSAIGTALVEENLHALINPGAPGGSAPADVSLNLAIGRSTVDGILRFTFNNIKYEAPSLPTLLKILANNASNDADFTPNEHTIVLPHNKVIGAQHHRGADHPIHLHGHVFDIVKSLGGTPNYVNPPRRDVVRVGGTGVVLRFKADNPGPWFVHCHIDCTWRLGSHLSLPRPPARFARVSSRSSPTMPGTSSAPSTRLFLPICSKW
UniProt ID: Q02081
Variant: H -> R at position 119-119
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MLSSITLLPLLAAVSTPAFAAVRNYKFDIKNVNVAPDGFQRPIVSVNGLVPGTLITANKGDTLRINVTNQLTDPSMRRATTIHWHGLFQATTADEDGPAFVTQCPIAQNLSYTYEIPLHGQTGTMWYHAHLASQYVDGLRGPLVIYDPNDPHKSRYDVDDASTVVMLEDWYHTPAPVLEKQMFSTNNTALLSPVPDSGLINGKGRYVGGPAVPRSVINVKRGKRYRLRVINASAIGSFTFSIEGHRLTVIEADGIPHQPLPVDSFQIYAGQRYSVIVEANQTAANYWIRAPMTVAGAGTNANLDPTNVFAVLHYEGAPNAEPTTEQGSAIGTALVEENLHALINPGAPGGSAPADVSLNLAIGRSTVDGILRFTFNNIKYEAPSLPTLLKILANNASNDADFTPNEHTIVLPHNKVIGAQHHRGADHPIHLHGHVFDIVKSLGGTPNYVNPPRRDVVRVGGTGVVLRFKADNPGPWFVHCHIDCTWRLGSHLSLPRPPARFARVSSRSSPTMPGTSSAPSTRLFLPICSKW
UniProt ID: Q02081
Variant: R -> S at position 246-246
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MLSSITLLPLLAAVSTPAFAAVRNYKFDIKNVNVAPDGFQRPIVSVNGLVPGTLITANKGDTLRINVTNQLTDPSMRRATTIHWHGLFQATTADEDGPAFVTQCPIAQNLSYTYEIPLHGQTGTMWYHAHLASQYVDGLRGPLVIYDPNDPHKSRYDVDDASTVVMLEDWYHTPAPVLEKQMFSTNNTALLSPVPDSGLINGKGRYVGGPAVPRSVINVKRGKRYRLRVINASAIGSFTFSIEGHRLTVIEADGIPHQPLPVDSFQIYAGQRYSVIVEANQTAANYWIRAPMTVAGAGTNANLDPTNVFAVLHYEGAPNAEPTTEQGSAIGTALVEENLHALINPGAPGGSAPADVSLNLAIGRSTVDGILRFTFNNIKYEAPSLPTLLKILANNASNDADFTPNEHTIVLPHNKVIGAQHHRGADHPIHLHGHVFDIVKSLGGTPNYVNPPRRDVVRVGGTGVVLRFKADNPGPWFVHCHIDCTWRLGSHLSLPRPPARFARVSSRSSPTMPGTSSAPSTRLFLPICSKW
UniProt ID: Q02081
Variant: P -> L at position 256-256
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MLSSITLLPLLAAVSTPAFAAVRNYKFDIKNVNVAPDGFQRPIVSVNGLVPGTLITANKGDTLRINVTNQLTDPSMRRATTIHWHGLFQATTADEDGPAFVTQCPIAQNLSYTYEIPLHGQTGTMWYHAHLASQYVDGLRGPLVIYDPNDPHKSRYDVDDASTVVMLEDWYHTPAPVLEKQMFSTNNTALLSPVPDSGLINGKGRYVGGPAVPRSVINVKRGKRYRLRVINASAIGSFTFSIEGHRLTVIEADGIPHQPLPVDSFQIYAGQRYSVIVEANQTAANYWIRAPMTVAGAGTNANLDPTNVFAVLHYEGAPNAEPTTEQGSAIGTALVEENLHALINPGAPGGSAPADVSLNLAIGRSTVDGILRFTFNNIKYEAPSLPTLLKILANNASNDADFTPNEHTIVLPHNKVIGAQHHRGADHPIHLHGHVFDIVKSLGGTPNYVNPPRRDVVRVGGTGVVLRFKADNPGPWFVHCHIDCTWRLGSHLSLPRPPARFARVSSRSSPTMPGTSSAPSTRLFLPICSKW
UniProt ID: Q02081
Variant: P -> A at position 261-261
Protein function: Lignin degradation and detoxification of lignin-derived products.
Reference sequence:
MLSSITLLPLLAAVSTPAFAAVRNYKFDIKNVNVAPDGFQRPIVSVNGLVPGTLITANKGDTLRINVTNQLTDPSMRRATTIHWHGLFQATTADEDGPAFVTQCPIAQNLSYTYEIPLHGQTGTMWYHAHLASQYVDGLRGPLVIYDPNDPHKSRYDVDDASTVVMLEDWYHTPAPVLEKQMFSTNNTALLSPVPDSGLINGKGRYVGGPAVPRSVINVKRGKRYRLRVINASAIGSFTFSIEGHRLTVIEADGIPHQPLPVDSFQIYAGQRYSVIVEANQTAANYWIRAPMTVAGAGTNANLDPTNVFAVLHYEGAPNAEPTTEQGSAIGTALVEENLHALINPGAPGGSAPADVSLNLAIGRSTVDGILRFTFNNIKYEAPSLPTLLKILANNASNDADFTPNEHTIVLPHNKVIGAQHHRGADHPIHLHGHVFDIVKSLGGTPNYVNPPRRDVVRVGGTGVVLRFKADNPGPWFVHCHIDCTWRLGSHLSLPRPPARFARVSSRSSPTMPGTSSAPSTRLFLPICSKW
UniProt ID: Q02094
Variant: I -> R at position 61-61
Variant annotation: in OHST; strongly enhances monovalent cation leak; dbSNP:rs863225469
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: F -> S at position 65-65
Variant annotation: in OHST; enhances monovalent cation leak; decreases ammonium fluxes; highly decreases STOM expression; decreases membrane expression; no effect on water permeability; dbSNP:rs863225468
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: S -> N at position 79-79
Variant annotation: in RHN; dbSNP:rs121918586
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: Q -> E at position 106-106
Variant annotation: in Duclos or RHAG1 antigen (030001); dbSNP:rs1180686517
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: K -> Q at position 164-164
Variant annotation: in DSLK or RHAG3 antigen (030003); dbSNP:rs144305805
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: S -> L at position 227-227
Variant annotation: in Ol(a) or RHAG2 antigen (030002); dbSNP:rs902283342
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: N -> D at position 242-242
Variant annotation: in dbSNP:rs1058063
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: V -> I at position 270-270
Variant annotation: in dbSNP:rs16879498
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR
UniProt ID: Q02094
Variant: G -> E at position 279-279
Variant annotation: in RHN; dbSNP:rs121918587
Protein function: Associated with rhesus blood group antigen expression . May be part of an oligomeric complex which is likely to have a transport or channel function in the erythrocyte membrane . Involved in ammonia transport across the erythrocyte membrane . Seems to act in monovalent cation transport .
Reference sequence:
MRFTFPLMAIVLEIAMIVLFGLFVEYETDQTVLEQLNITKPTDMGIFFELYPLFQDVHVMIFVGFGFLMTFLKKYGFSSVGINLLVAALGLQWGTIVQGILQSQGQKFNIGIKNMINADFSAATVLISFGAVLGKTSPTQMLIMTILEIVFFAHNEYLVSEIFKASDIGASMTIHAFGAYFGLAVAGILYRSGLRKGHENEESAYYSDLFAMIGTLFLWMFWPSFNSAIAEPGDKQCRAIVNTYFSLAACVLTAFAFSSLVEHRGKLNMVHIQNATLAGGVAVGTCADMAIHPFGSMIIGSIAGMVSVLGYKFLTPLFTTKLRIHDTCGVHNLHGLPGVVGGLAGIVAVAMGASNTSMAMQAAALGSSIGTAVVGGLMTGLILKLPLWGQPSDQNCYDDSVYWKVPKTR