sujigwak/NVAR huggingface dataset:
UniProt ID: Q8TF64
Variant: M -> I at position 88-88
Variant annotation: in DFNB15; dbSNP:rs1214652710
Protein function: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Reference sequence:
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG
UniProt ID: Q8TF64
Variant: G -> D at position 94-94
Variant annotation: in DFNB15; dbSNP:rs763523474
Protein function: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Reference sequence:
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG
UniProt ID: Q8TF64
Variant: R -> C at position 189-189
Variant annotation: in DFNB15; dbSNP:rs387907002
Protein function: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Reference sequence:
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG
UniProt ID: Q8TF64
Variant: T -> I at position 221-221
Variant annotation: in DFNB15; dbSNP:rs761543680
Protein function: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Reference sequence:
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG
UniProt ID: Q8TF64
Variant: G -> D at position 256-256
Variant annotation: in DFNB15; dbSNP:rs387907001
Protein function: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Reference sequence:
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG
UniProt ID: Q8TF64
Variant: L -> R at position 262-262
Variant annotation: in DFNB15; dbSNP:rs387906999
Protein function: Required for postnatal maturation of the hair bundle and long-term survival of hair cells and spiral ganglion.
Reference sequence:
MEGAAAREARGTETPRASAPPPAPSEPPAAPRARPRLVFRTQLAHGSPTGKIEGFTNVRELYAKIAEAFGIAPTEILFCTLNSHKVDMQKLLGGQIGLEDFIFAHVRGETKEVEVTKTEDALGLTITDNGAGYAFIKRIKEGSIINRIEAVCVGDSIEAINDHSIVGCRHYEVAKMLRELPKSQPFTLRLVQPKRAFDMIGQRSRSSKCPVEAKVTSGRETLRLRSGGAATVEEAPSEFEEEASRKVDDLLESYMGIRDPELASTMVETSKKTASAQEFARCLDSVLGEFAFPDEFVVEVWAAIGEAREACG
UniProt ID: Q8TF76
Variant: V -> E at position 76-76
Variant annotation: in dbSNP:rs11653889
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: R -> C at position 82-82
Variant annotation: in dbSNP:rs9907144
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: R -> H at position 145-145
Variant annotation: in dbSNP:rs55991903
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: G -> D at position 204-204
Variant annotation: in dbSNP:rs220462
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: G -> S at position 283-283
Variant annotation: in dbSNP:rs56224301
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: Q -> L at position 301-301
Variant annotation: in dbSNP:rs55649477
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: I -> T at position 328-328
Variant annotation: in dbSNP:rs220461
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: V -> A at position 378-378
Variant annotation: in dbSNP:rs3809806
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: N -> D at position 422-422
Variant annotation: in dbSNP:rs7223226
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8TF76
Variant: M -> V at position 706-706
Variant annotation: in dbSNP:rs56134695
Protein function: Serine/threonine-protein kinase that phosphorylates histone H3 at 'Thr-3' (H3T3ph) during mitosis. May act through H3T3ph to both position and modulate activation of AURKB and other components of the chromosomal passenger complex (CPC) at centromeres to ensure proper chromatid cohesion, metaphase alignment and normal progression through the cell cycle.
Reference sequence:
MAASLPGPGSRLFRTYGAADGRRQRRPGREAAQWFPPQDRRRFFNSSGSSDASIGDPSQSDDPDDPDDPDFPGSPVRRRRRRPGGRVPKDRPSLTVTPKRWKLRARPSLTVTPRRLGLRARPPQKCSTPCGPLRLPPFPSRDSGRLSPDLSVCGQPRDGDELGISASLFSSLASPCPGSPTPRDSVISIGTSACLVAASAVPSGLHLPEVSLDRASLPCSQEEATGGAKDTRMVHQTRASLRSVLFGLMNSGTPEDSEFRADGKNMRESCCKRKLVVGNGPEGPGLSSTGKRRATGQDSCQERGLQEAVRREHQEASVPKGRIVPRGIDRLERTRSSRKSKHQEATETSLLHSHRFKKGQKLGKDSFPTQDLTPLQNVCFWTKTRASFSFHKKKIVTDVSEVCSIYTTATSLSGSLLSECSNRPVMNRTSGAPSSWHSSSMYLLSPLNTLSISNKKASDAEKVYGECSQKGPVPFSHCLPTEKLQRCEKIGEGVFGEVFQTIADHTPVAIKIIAIEGPDLVNGSHQKTFEEILPEIIISKELSLLSGEVCNRTEGFIGLNSVHCVQGSYPPLLLKAWDHYNSTKGSANDRPDFFKDDQLFIVLEFEFGGIDLEQMRTKLSSLATAKSILHQLTASLAVAEASLRFEHRDLHWGNVLLKKTSLKKLHYTLNGKSSTIPSCGLQVSIIDYTLSRLERDGIVVFCDVSMDEDLFTGDGDYQFDIYRLMKKENNNRWGEYHPYSNVLWLHYLTDKMLKQMTFKTKCNTPAMKQIKRKIQEFHRTMLNFSSATDLLCQHSLFK
UniProt ID: Q8VBW5
Variant: P -> L at position 30-30
Variant annotation: in strain: C3H/He
Protein function: Transcription factor that is necessary for cell cycle progression from G1 to S phase.
Reference sequence:
MKGSNRNKDHSTEGEGDGKRPKRKCLQWHPLLAKKLLDFSEEEEEDEEEEDIDKVQLLEADGLEQDVAETEDDESPEQRARRPMNAFLLFCKRHRSLVRQEHPRLDNRGATKILADWWAVLDPKEKQKYTDMAKEYKDAFMKANPGYRWCPTTNKPVKSPTPTVNPRKKLWAFPPDSSRDLPTPKKAKTEVPQLNFGMADPTQMGGLSMLLLAGEHALGTPEASSGTCRPDISESPELRQKSPLFQFAEISSRTSHPDAPSKQCQASALFQFAEISSSTSQLGGTEPVKRCGNSALFQLAEMCLASEGVKMEDTKLIKSKESDGGRIEEIEKGKEERGTEVEKTTETSFQKEAEFGKSAKGNVRESKDLRDIEQLQMDNVMAIKVEDPKEIRKEPEDDQKYSHFPDFSYSASSKIIISGVPSRKDHMCHPHGIMIIEDPTTLNKPEKIKKKKKKNKLDRHGNDKSTPKKTCKKRQSSESDIESVMYTIEAVAKGDWGVDKLGETPRKKVRPSSSGKGGILDAKPPKKKVKSKEKKVSKEKCSDITKESRPPDFLSISASKSVPGEVPEGIKAEPLTPTEDALPPSLPGQAKPEDSDCHRKTETCGSRKSERSCKGALYKTLVSEGMLTSLRANVDRGKRSSGKGNSSDHEGCWSEESWTFNQSGTSGSKKFKKKLREDSFLGSAKLDEEFEKKFNSLPQYSPITFDRKCVSTPRKKKKTGNMSSESTKTSKGSGDKWSHKQFFLDAIHPTEAIFSEDKSTTEPAFKVKNALSIPNTPEPTTMQEPLVGSQKRKARKTKITHLVRTADGRVSPAGGTLDDKPKEQLQRSLPKVPGTYCGDNCSHSTVEEPRSSTPDMPAVSAFFSLAALAEVAAMENVHRGQRSTPLTHDGQPKEMPQAPVLISCADQ
UniProt ID: Q8VBW5
Variant: Q -> H at position 281-281
Variant annotation: in strain: C3H/He
Protein function: Transcription factor that is necessary for cell cycle progression from G1 to S phase.
Reference sequence:
MKGSNRNKDHSTEGEGDGKRPKRKCLQWHPLLAKKLLDFSEEEEEDEEEEDIDKVQLLEADGLEQDVAETEDDESPEQRARRPMNAFLLFCKRHRSLVRQEHPRLDNRGATKILADWWAVLDPKEKQKYTDMAKEYKDAFMKANPGYRWCPTTNKPVKSPTPTVNPRKKLWAFPPDSSRDLPTPKKAKTEVPQLNFGMADPTQMGGLSMLLLAGEHALGTPEASSGTCRPDISESPELRQKSPLFQFAEISSRTSHPDAPSKQCQASALFQFAEISSSTSQLGGTEPVKRCGNSALFQLAEMCLASEGVKMEDTKLIKSKESDGGRIEEIEKGKEERGTEVEKTTETSFQKEAEFGKSAKGNVRESKDLRDIEQLQMDNVMAIKVEDPKEIRKEPEDDQKYSHFPDFSYSASSKIIISGVPSRKDHMCHPHGIMIIEDPTTLNKPEKIKKKKKKNKLDRHGNDKSTPKKTCKKRQSSESDIESVMYTIEAVAKGDWGVDKLGETPRKKVRPSSSGKGGILDAKPPKKKVKSKEKKVSKEKCSDITKESRPPDFLSISASKSVPGEVPEGIKAEPLTPTEDALPPSLPGQAKPEDSDCHRKTETCGSRKSERSCKGALYKTLVSEGMLTSLRANVDRGKRSSGKGNSSDHEGCWSEESWTFNQSGTSGSKKFKKKLREDSFLGSAKLDEEFEKKFNSLPQYSPITFDRKCVSTPRKKKKTGNMSSESTKTSKGSGDKWSHKQFFLDAIHPTEAIFSEDKSTTEPAFKVKNALSIPNTPEPTTMQEPLVGSQKRKARKTKITHLVRTADGRVSPAGGTLDDKPKEQLQRSLPKVPGTYCGDNCSHSTVEEPRSSTPDMPAVSAFFSLAALAEVAAMENVHRGQRSTPLTHDGQPKEMPQAPVLISCADQ
UniProt ID: Q8VHC8
Variant: M -> I at position 55-55
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover.
Reference sequence:
MGASVLPLGLGAGDCQSSSGRRMSACLPRTALSFLLSLLLATPGARAAGYETCPMVQPGMLNVHLVAHTHDDVGWLKTVDQYYWGIHNDLQQAGVQYILDSVISALLAEPTRRFVYVEMAFFSRWWHQQTNETQEVVRRLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGSDGRPRVAWHIDPFGHSREQASLFAQMGFDGVFFGRIDYQDKLVRKKRREMELVWRASASLKAPAADLFTGVLPNNYGPPEGLCWDVLCADPPVVDDPRSPEYNAKKLVSYFLQLATAQGRYYRTNHTVMTMGSDFQYENANTWFKNLDKLIQLVNMQQANGSRVHVLYSTPACYLWELNKANLTWPVKEDDFFPYADGPHMFWTGYFSSRPALKRYERLSYNFLQVCNQLEAQVGPAANVGPYGHGDSSPLNQAMAVLQHHDAVSGTSKQHVADDYARQLAAGWGPCEVLLSNALAKLSGSKETFLFCRDLNISICPFSQTSERFQVLVYNPLGRKVDRMVRLPVRKGLFLIKDPGNNTVPSTVVELTSSGNPELLFPALVPALGFSVYSVTRVSDQNPQTRSQHSRPQKYSSPVLSIKNEYLRASFHPDTGLLSMIEVLDRKLTLPVNQAFFWYNASVGDKRSSQASGAYIFRPSQQWPFPVSHLARTRLVKTALVQEVHQNFTAWCSQVVRLYSGQRHLELEWTVGPIPVGDKWGKEIISRFDTPLETGGVFFTDSNGREVLERRRDYRPSWKLNQTEPVAGNYYPVNSRIYITDGKMQLTVLTDRSQGGSSMSDGSLELMVHRRLLKDDGRGVGEALQEPGSGGWVRGRHLLLLDTAREAAAEHRLLAEKELLAPQLVLAPGQGPSYHHDHHEAVPRKQFSGLRRQLPPSVRLLTLARWGPDTLLLRLEHQFALGEDSSRNLSLPVTLDLQDLFSTFTITRLQETTLAANQLRASASRLKWTTEIDPISRPAVPRLDPSSITLQPMEIRTFVASVQWEENS
UniProt ID: Q8VHC8
Variant: R -> W at position 227-227
Variant annotation: in AM
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover.
Reference sequence:
MGASVLPLGLGAGDCQSSSGRRMSACLPRTALSFLLSLLLATPGARAAGYETCPMVQPGMLNVHLVAHTHDDVGWLKTVDQYYWGIHNDLQQAGVQYILDSVISALLAEPTRRFVYVEMAFFSRWWHQQTNETQEVVRRLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGSDGRPRVAWHIDPFGHSREQASLFAQMGFDGVFFGRIDYQDKLVRKKRREMELVWRASASLKAPAADLFTGVLPNNYGPPEGLCWDVLCADPPVVDDPRSPEYNAKKLVSYFLQLATAQGRYYRTNHTVMTMGSDFQYENANTWFKNLDKLIQLVNMQQANGSRVHVLYSTPACYLWELNKANLTWPVKEDDFFPYADGPHMFWTGYFSSRPALKRYERLSYNFLQVCNQLEAQVGPAANVGPYGHGDSSPLNQAMAVLQHHDAVSGTSKQHVADDYARQLAAGWGPCEVLLSNALAKLSGSKETFLFCRDLNISICPFSQTSERFQVLVYNPLGRKVDRMVRLPVRKGLFLIKDPGNNTVPSTVVELTSSGNPELLFPALVPALGFSVYSVTRVSDQNPQTRSQHSRPQKYSSPVLSIKNEYLRASFHPDTGLLSMIEVLDRKLTLPVNQAFFWYNASVGDKRSSQASGAYIFRPSQQWPFPVSHLARTRLVKTALVQEVHQNFTAWCSQVVRLYSGQRHLELEWTVGPIPVGDKWGKEIISRFDTPLETGGVFFTDSNGREVLERRRDYRPSWKLNQTEPVAGNYYPVNSRIYITDGKMQLTVLTDRSQGGSSMSDGSLELMVHRRLLKDDGRGVGEALQEPGSGGWVRGRHLLLLDTAREAAAEHRLLAEKELLAPQLVLAPGQGPSYHHDHHEAVPRKQFSGLRRQLPPSVRLLTLARWGPDTLLLRLEHQFALGEDSSRNLSLPVTLDLQDLFSTFTITRLQETTLAANQLRASASRLKWTTEIDPISRPAVPRLDPSSITLQPMEIRTFVASVQWEENS
UniProt ID: Q8VL42
Variant: H -> Y at position 46-46
Variant annotation: in strain: AL202, AT4 and PV259
Protein function: Binds the lower part of the 30S subunit head. Binds mRNA in the 70S ribosome, positioning it for translation.
Reference sequence:
MGQKSNPNGLRLGIIRTWESKWYDVDKKVPFLVGEDFKIRTLIKNHYPKSTISQIEIKRLKKSNDEFIEIDLYTSKIGIIQGPENKNKNSLINKIEKLINKKVQINIFEVKAINKIAVLVAQNIAMQLQQRAFYKAVLKSAIQKALKSGIKGIKIIITGRLGGAEKARRDSISMGVVPLNTLRADIDYAFEEAHTTYGVLGVKVIINHGEVLPNKTIADTRQIFSSQYENKKNNNKRHFVDKKNFKKSTS
UniProt ID: Q8VL42
Variant: V -> I at position 103-103
Variant annotation: in strain: AL202, AT4, FD70 and PV259
Protein function: Binds the lower part of the 30S subunit head. Binds mRNA in the 70S ribosome, positioning it for translation.
Reference sequence:
MGQKSNPNGLRLGIIRTWESKWYDVDKKVPFLVGEDFKIRTLIKNHYPKSTISQIEIKRLKKSNDEFIEIDLYTSKIGIIQGPENKNKNSLINKIEKLINKKVQINIFEVKAINKIAVLVAQNIAMQLQQRAFYKAVLKSAIQKALKSGIKGIKIIITGRLGGAEKARRDSISMGVVPLNTLRADIDYAFEEAHTTYGVLGVKVIINHGEVLPNKTIADTRQIFSSQYENKKNNNKRHFVDKKNFKKSTS
UniProt ID: Q8VL42
Variant: V -> I at position 118-118
Variant annotation: in strain: TV46 and TV51
Protein function: Binds the lower part of the 30S subunit head. Binds mRNA in the 70S ribosome, positioning it for translation.
Reference sequence:
MGQKSNPNGLRLGIIRTWESKWYDVDKKVPFLVGEDFKIRTLIKNHYPKSTISQIEIKRLKKSNDEFIEIDLYTSKIGIIQGPENKNKNSLINKIEKLINKKVQINIFEVKAINKIAVLVAQNIAMQLQQRAFYKAVLKSAIQKALKSGIKGIKIIITGRLGGAEKARRDSISMGVVPLNTLRADIDYAFEEAHTTYGVLGVKVIINHGEVLPNKTIADTRQIFSSQYENKKNNNKRHFVDKKNFKKSTS
UniProt ID: Q8VSL2
Variant: R -> H at position 600-600
Variant annotation: in plasmid pWR100 and plasmid pWR501
Protein function: Major protein secreted in laboratory media showing proteolytic activity. May be involved in invasion and destruction of host intestinal epithelium.
Reference sequence:
MNKIYYLKYCHITKSLIAVSELARRVTCKSHRRLSRRVILTSVAALSLSSAWPALSATVSAEIPYQIFRDFAENKGQFTPGTTNISIYDKQGNLVGKLDKAPMADFSSATITTGSLPPGDHTLYSPQYVVTAKHVSGSDTMSFGYAKNTYTAVGTNNNSGLDIKTRRLSKLVTEVAPAEVSDIGAVSGAYQAGGRFTEFYRLGGGMQYVKDKNGNRTQVYTNGGFLVGGTVSALNSYNNGQMITAQTGDIFNPANGPLANYLNMGDSGSPLFAYDSLQKKWVLIGVLSSGTNYGNNWVVTTQDFLGQQPQNDFDKTIAYTSGEGVLQWKYDAANGTGTLTQGNTTWDMHGKKGNDLNAGKNLLFTGNNGEVVLQNSVNQGAGYLQFAGDYRVSALNGQTWMGGGIITDKGTHVLWQVNGVAGDNLHKTGEGTLTVNGTGVNAGGLKVGDGTVILNQQADADGKVQAFSSVGIASGRPTVVLSDSQQVNPDNISWGYRGGRLELNGNNLTFTRLQAADYGAIITNNSEKKSTVTLDLQTLKASDINVPVNTVSIFGGRGAPGDLYYDSSTKQYFILKASSYSPFFSDLNNSSVWQNVGKDRNKAIDTVKQQKIEASSQPYMYHGQLNGNMDVNIPQLSGKDVLALDGSVNLPEGSITKKSGTLIFQGHPVIHAGTTTSSSQSDWETRQFTLEKLKLDAATFHLSRNGKMQGDINATNGSTVILGSSRVFTDRSDGTGNAVFSVEGSATATTVGDQSDYSGNVTLENKSSLQIMERFTGGIEAYDSTVSVTSQNAVFDRVGSFVNSSLTLGKGAKLTAQSGIFSTGAVDVKENASLTLTGMPSAQKQGYYSPVISTTEGINLEDNASFSVKNMGYLSSDIHAGTTAATINLGDSDADAGKTDSPLFSSLMKGYNAVLRGSITGAQSTVNMINALWYSDGKSEAGALKAKGSRIELGDGKHFATLQVKELSADNTTFLMHTNNSRADQLNVTDKLSGSNNSVLVDFLNKPASEMSVTLITAPKGSDEKTFTAGTQQIGFSNVTPVISTEKTDDATKWVLTGYQTTADAGASKAAKDFMASGYKSFLTEVNNLNKRMGDLRDTQGDAGVWARIMNGTGSADGDYSDNYTHVQIGVDRKHELDGVDLFTGALLTYTDSNASSHAFSGKNKSVGGGLYASALFNSGAYFDLIGKYLHHDNQHTANFASLGTKDYSSHSWYAGAEVGYRYHLTKESWVEPQIELVYGSVSGKAFSWEDRGMALSMKDKDYNPLIGRTGVDVGRAFSGDDWKITARAGLGYQFDLLANGETVLQDASGEKRFEGEKDSRMLMTVGMNAEIKDNMRLGLELEKSAFGKYNVDNAINANFRYVF