sujigwak/NVAR huggingface dataset:
UniProt ID: Q9UQQ1
Variant: K -> T at position 398-398
Variant annotation: in dbSNP:rs12223986
Protein function: Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2' position, or Pro in the P3' position. Lacks activity with substrates that have both Pro in the P3' position and Asp or Glu in the P2' position . Lacks carboxypeptidase activity. Lacks dipeptidyl-peptidase IV type activity .
Reference sequence:
MQWTKVLGLGLGAAALLGLGIILGHFAIPKKANSLAPQDLDLEILETVMGQLDAHRIRENLRELSREPHLASSPRDEDLVQLLLQRWKDPESGLDSAEASTYEVLLSFPSQEQPNVVDIVGPTGGIIHSCHRTEENVTGEQGGPDVVQPYAAYAPSGTPQGLLVYANRGAEEDFKELQTQGIKLEGTIALTRYGGVGRGAKAVNAAKHGVAGVLVYTDPADINDGLSSPDETFPNSWYLPPSGVERGSYYEYFGDPLTPYLPAVPSSFRVDLANVSGFPPIPTQPIGFQDARDLLCNLNGTLAPATWQGALGCHYRLGPGFRPDGDFPADSQVNVSVYNRLELRNSSNVLGIIRGAVEPDRYVLYGNHRDSWVHGAVDPSSGTAVLLELSRVLGTLLKKGTWRPRRSIVFASWGAEEFGLIGSTEFTEEFFNKLQERTVAYINVDISVFANATLRVQGTPPVQSVVFSATKEIRSPGPGDLSIYDNWIRYFNRSSPVYGLVPSLGSLGAGSDYAPFVHFLGISSMDIAYTYDRSKTSARIYPTYHTAFDTFDYVDKFLDPGFSSHQAVARTAGSVILRLSDSFFLPLKVSDYSETLRSFLQAAQQDLGALLEQHSISLGPLVTAVEKFEAEAAALGQRISTLQKGSPDPLQVRMLNDQLMLLERTFLNPRAFPEERYYSHVLWAPRTGSVVTFPGLSNACSRARDTASGSEAWAEVQRQLSIVVTALEGAAATLRPVADL
UniProt ID: Q9UQQ1
Variant: L -> V at position 611-611
Variant annotation: in dbSNP:rs36053340
Protein function: Aminopeptidase with broad substrate specificity. Has lower activity with substrates that have Asp or Glu in the P2' position, or Pro in the P3' position. Lacks activity with substrates that have both Pro in the P3' position and Asp or Glu in the P2' position . Lacks carboxypeptidase activity. Lacks dipeptidyl-peptidase IV type activity .
Reference sequence:
MQWTKVLGLGLGAAALLGLGIILGHFAIPKKANSLAPQDLDLEILETVMGQLDAHRIRENLRELSREPHLASSPRDEDLVQLLLQRWKDPESGLDSAEASTYEVLLSFPSQEQPNVVDIVGPTGGIIHSCHRTEENVTGEQGGPDVVQPYAAYAPSGTPQGLLVYANRGAEEDFKELQTQGIKLEGTIALTRYGGVGRGAKAVNAAKHGVAGVLVYTDPADINDGLSSPDETFPNSWYLPPSGVERGSYYEYFGDPLTPYLPAVPSSFRVDLANVSGFPPIPTQPIGFQDARDLLCNLNGTLAPATWQGALGCHYRLGPGFRPDGDFPADSQVNVSVYNRLELRNSSNVLGIIRGAVEPDRYVLYGNHRDSWVHGAVDPSSGTAVLLELSRVLGTLLKKGTWRPRRSIVFASWGAEEFGLIGSTEFTEEFFNKLQERTVAYINVDISVFANATLRVQGTPPVQSVVFSATKEIRSPGPGDLSIYDNWIRYFNRSSPVYGLVPSLGSLGAGSDYAPFVHFLGISSMDIAYTYDRSKTSARIYPTYHTAFDTFDYVDKFLDPGFSSHQAVARTAGSVILRLSDSFFLPLKVSDYSETLRSFLQAAQQDLGALLEQHSISLGPLVTAVEKFEAEAAALGQRISTLQKGSPDPLQVRMLNDQLMLLERTFLNPRAFPEERYYSHVLWAPRTGSVVTFPGLSNACSRARDTASGSEAWAEVQRQLSIVVTALEGAAATLRPVADL
UniProt ID: Q9UQQ2
Variant: F -> L at position 182-182
Variant annotation: in dbSNP:rs7972796
Protein function: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.
Reference sequence:
MNGPALQPSSPSSAPSASPAAAPRGWSEFCELHAVAAARELARQYWLFAREHPQHAPLRAELVSLQFTDLFQRYFCREVRDGRAPGRDYRDTGRGPPAKAEASPEPGPGPAAPGLPKARSSEELAPPRPPGPCSFQHFRRSLRHIFRRRSAGELPAAHTAAAPGTPGEAAETPARPGLAKKFLPWSLAREPPPEALKEAVLRYSLADEASMDSGARWQRGRLALRRAPGPDGPDRVLELFDPPKSSRPKLQAACSSIQEVRWCTRLEMPDNLYTFVLKVKDRTDIIFEVGDEQQLNSWMAELSECTGRGLESTEAEMHIPSALEPSTSSSPRGSTDSLNQGASPGGLLDPACQKTDHFLSCYPWFHGPISRVKAAQLVQLQGPDAHGVFLVRQSETRRGEYVLTFNFQGIAKHLRLSLTERGQCRVQHLHFPSVVDMLHHFQRSPIPLECGAACDVRLSSYVVVVSQPPGSCNTVLFPFSLPHWDSESLPHWGSELGLPHLSSSGCPRGLSPEGLPGRSSPPEQIFHLVPSPEELANSLQHLEHEPVNRARDSDYEMDSSSRSHLRAIDNQYTPL
UniProt ID: Q9UQQ2
Variant: A -> V at position 215-215
Variant annotation: found in a patient with isolated erythrocytosis; uncertain significance
Protein function: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.
Reference sequence:
MNGPALQPSSPSSAPSASPAAAPRGWSEFCELHAVAAARELARQYWLFAREHPQHAPLRAELVSLQFTDLFQRYFCREVRDGRAPGRDYRDTGRGPPAKAEASPEPGPGPAAPGLPKARSSEELAPPRPPGPCSFQHFRRSLRHIFRRRSAGELPAAHTAAAPGTPGEAAETPARPGLAKKFLPWSLAREPPPEALKEAVLRYSLADEASMDSGARWQRGRLALRRAPGPDGPDRVLELFDPPKSSRPKLQAACSSIQEVRWCTRLEMPDNLYTFVLKVKDRTDIIFEVGDEQQLNSWMAELSECTGRGLESTEAEMHIPSALEPSTSSSPRGSTDSLNQGASPGGLLDPACQKTDHFLSCYPWFHGPISRVKAAQLVQLQGPDAHGVFLVRQSETRRGEYVLTFNFQGIAKHLRLSLTERGQCRVQHLHFPSVVDMLHHFQRSPIPLECGAACDVRLSSYVVVVSQPPGSCNTVLFPFSLPHWDSESLPHWGSELGLPHLSSSGCPRGLSPEGLPGRSSPPEQIFHLVPSPEELANSLQHLEHEPVNRARDSDYEMDSSSRSHLRAIDNQYTPL
UniProt ID: Q9UQQ2
Variant: W -> R at position 262-262
Variant annotation: risk factor for CELIAC13; risk factor for T1D; dbSNP:rs3184504
Protein function: Links T-cell receptor activation signal to phospholipase C-gamma-1, GRB2 and phosphatidylinositol 3-kinase.
Reference sequence:
MNGPALQPSSPSSAPSASPAAAPRGWSEFCELHAVAAARELARQYWLFAREHPQHAPLRAELVSLQFTDLFQRYFCREVRDGRAPGRDYRDTGRGPPAKAEASPEPGPGPAAPGLPKARSSEELAPPRPPGPCSFQHFRRSLRHIFRRRSAGELPAAHTAAAPGTPGEAAETPARPGLAKKFLPWSLAREPPPEALKEAVLRYSLADEASMDSGARWQRGRLALRRAPGPDGPDRVLELFDPPKSSRPKLQAACSSIQEVRWCTRLEMPDNLYTFVLKVKDRTDIIFEVGDEQQLNSWMAELSECTGRGLESTEAEMHIPSALEPSTSSSPRGSTDSLNQGASPGGLLDPACQKTDHFLSCYPWFHGPISRVKAAQLVQLQGPDAHGVFLVRQSETRRGEYVLTFNFQGIAKHLRLSLTERGQCRVQHLHFPSVVDMLHHFQRSPIPLECGAACDVRLSSYVVVVSQPPGSCNTVLFPFSLPHWDSESLPHWGSELGLPHLSSSGCPRGLSPEGLPGRSSPPEQIFHLVPSPEELANSLQHLEHEPVNRARDSDYEMDSSSRSHLRAIDNQYTPL
UniProt ID: Q9UQV4
Variant: E -> G at position 32-32
Variant annotation: in dbSNP:rs17853113
Protein function: (Microbial infection) Promotes the intracellular proliferation of Salmonella typhimuium.
Reference sequence:
MPRQLSAAAALFASLAVILHDGSQMRAKAFPETRDYSQPTAAATVQDIKKPVQQPAKQAPHQTLAARFMDGHITFQTAATVKIPTTTPATTKNTATTSPITYTLVTTQATPNNSHTAPPVTEVTVGPSLAPYSLPPTITPPAHTTGTSSSTVSHTTGNTTQPSNQTTLPATLSIALHKSTTGQKPVQPTHAPGTTAAAHNTTRTAAPASTVPGPTLAPQPSSVKTGIYQVLNGSRLCIKAEMGIQLIVQDKESVFSPRRYFNIDPNATQASGNCGTRKSNLLLNFQGGFVNLTFTKDEESYYISEVGAYLTVSDPETIYQGIKHAVVMFQTAVGHSFKCVSEQSLQLSAHLQVKTTDVQLQAFDFEDDHFGNVDECSSDYTIVLPVIGAIVVGLCLMGMGVYKIRLRCQSSGYQRI
UniProt ID: Q9UQV4
Variant: I -> V at position 318-318
Variant annotation: in dbSNP:rs482912
Protein function: (Microbial infection) Promotes the intracellular proliferation of Salmonella typhimuium.
Reference sequence:
MPRQLSAAAALFASLAVILHDGSQMRAKAFPETRDYSQPTAAATVQDIKKPVQQPAKQAPHQTLAARFMDGHITFQTAATVKIPTTTPATTKNTATTSPITYTLVTTQATPNNSHTAPPVTEVTVGPSLAPYSLPPTITPPAHTTGTSSSTVSHTTGNTTQPSNQTTLPATLSIALHKSTTGQKPVQPTHAPGTTAAAHNTTRTAAPASTVPGPTLAPQPSSVKTGIYQVLNGSRLCIKAEMGIQLIVQDKESVFSPRRYFNIDPNATQASGNCGTRKSNLLLNFQGGFVNLTFTKDEESYYISEVGAYLTVSDPETIYQGIKHAVVMFQTAVGHSFKCVSEQSLQLSAHLQVKTTDVQLQAFDFEDDHFGNVDECSSDYTIVLPVIGAIVVGLCLMGMGVYKIRLRCQSSGYQRI
UniProt ID: Q9URQ0
Variant: Y -> F at position 183-183
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: T -> A at position 412-412
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: T -> S at position 438-438
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: N -> S at position 470-470
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: IRVH -> VRFR at position 501-504
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: V -> I at position 530-530
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: I -> T at position 533-533
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: NVP -> GGS at position 649-651
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: A -> E at position 661-661
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: G -> S at position 663-663
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: N -> D at position 687-687
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: G -> S at position 726-726
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: L -> S at position 729-729
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: G -> GG at position 785-785
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF
UniProt ID: Q9URQ0
Variant: T -> I at position 796-796
Variant annotation: in allele ALS2-2
Protein function: Cell surface adhesion protein which mediates both yeast-to-host tissue adherence and yeast aggregation. Plays an important role in the pathogenesis of C.albicans infections.
Reference sequence:
MLLQFLLLSLCVSVATAKVITGVFNSFDSLTWTRAGNYAYKGPNRPTWNAVLGWSLDGTSANPGDTFTLNMPCVFKFITDQTSVDLTAEGVKYATCQFYSGEEFTTFSSLKCTVSNTLTSSIKALGTVTLPISFNVGGTGSSVDLESSQCFKAGTNTVTFNDGDKKISIDVDFEKTNEDASGYFIASRLIPSINKVSITYVAPQCANGYTSGAMGFIVLTGDTTIDCSNVHVGITKGLNDWNFPVSSDSLSYNKTCSSTGISITYENVPAGYRPFFDVYTSVSGQNRQLRYTNDYACVGSSLQSKPFNLRLRGYNNSEANSNGFVIVATTRTVTDSTTAVTTLPFNPSVDKTKTIEILQPIPTTTITTSYVGVTTSYSTKTAPIGETATVIVDVPYHTTTTVTSEWTGTITTTTTRTNPTDSIDTVVVQVPSPNPTVTTTEYWSQSYATTTTVTAPPGGTDSVIIREPPNPTVTTTEYWSQSYATTLTITAPPGGTNSVIIRVHSSTNDESSESTFSTLSVPSFSGSISVVSIISRPHYVNSTVTHLPSSSSKPVDIPSSDAVTSTNDNSLTSLTGSENGKTSVAISTTFCDDENGCQTSIPQGSVVRTTATTTATTTTIIGDNNGSGKSKSGELSPTGSVTTNTATPNVPSTKVPSNPGAPGTGVPPPLAPSTETQTTNNVPGSPNIPATGTTDIIRESTTVSHTVTGNGNTGVPMNPNPALTTGTSLTGATNSATNPSHETGVNTGSGGSTNIVTPPSSATATVVIPGTDNGATTKGQDTAGGNSNGSTATTNTQGGNNEPGNQPGTNTTGEPVGTTGTQSVELISQQTTLSQQTTSSLISTPLASTFDGSGSIVQHSGWLYVLLTAISIFF