sujigwak/NVAR huggingface dataset:
UniProt ID: Q8T626
Variant: S -> L at position 425-425
Variant annotation: in strain: 2b and Oregon-R
Protein function: Regulator of cell proliferation and cell survival of differentiated cells independent of cell division. Essential for imaginal disks formation. Not involved in cell polarity.
Reference sequence:
MTAELKASDTEMTKPEERHLLQLLAQLEKVPHHQLEQKFVAYFKKVGKGDNQSNCTLEDFATYFLGALRQSTKRYYYSQNSETPVFPLTPIHQLKPPVADVVKEEEQQQLNESSILSRSSCSMSSTSNTTPAPQQPQGRRSTPGSGAQFCSTPNRSGGGGAGGGHSICLGNFLVNTPIQSHQRSKKKITPQKQQQNQHASLGSGTGAGATPQSKPRRRVLPMTISKNVSASSSFGDTSSFSNENNFWRISQSSEIFDRSQEAALEMEARKFLLLKKQEIKSEAPVNVSQQERTPEDEVFPEEAISLEGVANANHLQLLSTIYSLLMDLNLVPNVLRELSFVVHLLNVRDFGQSPVKSYVPSALEGLTQHKSCVYFAAKLLENQKKLLLQLDKRTLSVLLQNERLSLLPQGVVQELETHCQRRQDSTTPFAMDTSSSSQQNVYYHVENDSRDNFPSQNEFGAFKSQRDLFYKALKRWEVSHLNRGFNFPSELGPRIMDIYKKSEHPVNMTHLAKLFVNQLLISATETTESPEELGLKLDPLRHNKLAQRLVTSSSSVEGQFPRSQAFFRDFIAVCSSVAFLVHLKLELFVQLMRNNDSTFDLLQLTDDVAVEEQSAQQGPYIVRVQTMANMLILAKFLGYVTVMPFSGTTQHGNPTPPYLCPQQLQLRNHFRPDFNLREILERSMRQGKLLITLPWLVQYLAMLDLVSLHLPDAVATLELLYGLYADIRMAKLQPAAVFIARSCIGWLLDAQPQLVNGYYNYRAQEAGVGSISAIVDICLKDLSCHDKSHAPLLDELLPVACPFLQEFRVSITPSRQAKSGRFRYITTRLEQLQQNSSSISKDAIVASELSPAEQQQRKLVDAYLQSQNASTRRLIEFVTERTFKCVVKDAQQEILLPSKASADAKVNEIKSTMLEEVFQELHEIFQDARENACQRWKEHVHQMLDRRIEHSLDGLLPSSTNAVLRSTYAHLIRVQAQTQLQQWLQSSVLQSTFYHGDLQELATKVCNCNRNKADAAAAGGGGSSELQLSPDIGFSLSEFLYQLQQWLHCLSLRPEYVGSQEDLAELLRKAQKAVLLPKMPTVFYHLIGSGLVHLLQLLITRKPNFLDKDIISASCSVWRSQQLMDSKASPGIFDGLISISFVQEMANSADSFRMLETILRSMLQSGAIRADHLNELFMPLFAENWSPKVWCMLSELLQQLSLSGKDSEAHYASGDSPEDEAKSHLFMEMLADLSRDLDNF
UniProt ID: Q8T626
Variant: P -> T at position 734-734
Variant annotation: in strain: Oregon-R
Protein function: Regulator of cell proliferation and cell survival of differentiated cells independent of cell division. Essential for imaginal disks formation. Not involved in cell polarity.
Reference sequence:
MTAELKASDTEMTKPEERHLLQLLAQLEKVPHHQLEQKFVAYFKKVGKGDNQSNCTLEDFATYFLGALRQSTKRYYYSQNSETPVFPLTPIHQLKPPVADVVKEEEQQQLNESSILSRSSCSMSSTSNTTPAPQQPQGRRSTPGSGAQFCSTPNRSGGGGAGGGHSICLGNFLVNTPIQSHQRSKKKITPQKQQQNQHASLGSGTGAGATPQSKPRRRVLPMTISKNVSASSSFGDTSSFSNENNFWRISQSSEIFDRSQEAALEMEARKFLLLKKQEIKSEAPVNVSQQERTPEDEVFPEEAISLEGVANANHLQLLSTIYSLLMDLNLVPNVLRELSFVVHLLNVRDFGQSPVKSYVPSALEGLTQHKSCVYFAAKLLENQKKLLLQLDKRTLSVLLQNERLSLLPQGVVQELETHCQRRQDSTTPFAMDTSSSSQQNVYYHVENDSRDNFPSQNEFGAFKSQRDLFYKALKRWEVSHLNRGFNFPSELGPRIMDIYKKSEHPVNMTHLAKLFVNQLLISATETTESPEELGLKLDPLRHNKLAQRLVTSSSSVEGQFPRSQAFFRDFIAVCSSVAFLVHLKLELFVQLMRNNDSTFDLLQLTDDVAVEEQSAQQGPYIVRVQTMANMLILAKFLGYVTVMPFSGTTQHGNPTPPYLCPQQLQLRNHFRPDFNLREILERSMRQGKLLITLPWLVQYLAMLDLVSLHLPDAVATLELLYGLYADIRMAKLQPAAVFIARSCIGWLLDAQPQLVNGYYNYRAQEAGVGSISAIVDICLKDLSCHDKSHAPLLDELLPVACPFLQEFRVSITPSRQAKSGRFRYITTRLEQLQQNSSSISKDAIVASELSPAEQQQRKLVDAYLQSQNASTRRLIEFVTERTFKCVVKDAQQEILLPSKASADAKVNEIKSTMLEEVFQELHEIFQDARENACQRWKEHVHQMLDRRIEHSLDGLLPSSTNAVLRSTYAHLIRVQAQTQLQQWLQSSVLQSTFYHGDLQELATKVCNCNRNKADAAAAGGGGSSELQLSPDIGFSLSEFLYQLQQWLHCLSLRPEYVGSQEDLAELLRKAQKAVLLPKMPTVFYHLIGSGLVHLLQLLITRKPNFLDKDIISASCSVWRSQQLMDSKASPGIFDGLISISFVQEMANSADSFRMLETILRSMLQSGAIRADHLNELFMPLFAENWSPKVWCMLSELLQQLSLSGKDSEAHYASGDSPEDEAKSHLFMEMLADLSRDLDNF
UniProt ID: Q8T626
Variant: S -> A at position 958-958
Variant annotation: in strain: Oregon-R
Protein function: Regulator of cell proliferation and cell survival of differentiated cells independent of cell division. Essential for imaginal disks formation. Not involved in cell polarity.
Reference sequence:
MTAELKASDTEMTKPEERHLLQLLAQLEKVPHHQLEQKFVAYFKKVGKGDNQSNCTLEDFATYFLGALRQSTKRYYYSQNSETPVFPLTPIHQLKPPVADVVKEEEQQQLNESSILSRSSCSMSSTSNTTPAPQQPQGRRSTPGSGAQFCSTPNRSGGGGAGGGHSICLGNFLVNTPIQSHQRSKKKITPQKQQQNQHASLGSGTGAGATPQSKPRRRVLPMTISKNVSASSSFGDTSSFSNENNFWRISQSSEIFDRSQEAALEMEARKFLLLKKQEIKSEAPVNVSQQERTPEDEVFPEEAISLEGVANANHLQLLSTIYSLLMDLNLVPNVLRELSFVVHLLNVRDFGQSPVKSYVPSALEGLTQHKSCVYFAAKLLENQKKLLLQLDKRTLSVLLQNERLSLLPQGVVQELETHCQRRQDSTTPFAMDTSSSSQQNVYYHVENDSRDNFPSQNEFGAFKSQRDLFYKALKRWEVSHLNRGFNFPSELGPRIMDIYKKSEHPVNMTHLAKLFVNQLLISATETTESPEELGLKLDPLRHNKLAQRLVTSSSSVEGQFPRSQAFFRDFIAVCSSVAFLVHLKLELFVQLMRNNDSTFDLLQLTDDVAVEEQSAQQGPYIVRVQTMANMLILAKFLGYVTVMPFSGTTQHGNPTPPYLCPQQLQLRNHFRPDFNLREILERSMRQGKLLITLPWLVQYLAMLDLVSLHLPDAVATLELLYGLYADIRMAKLQPAAVFIARSCIGWLLDAQPQLVNGYYNYRAQEAGVGSISAIVDICLKDLSCHDKSHAPLLDELLPVACPFLQEFRVSITPSRQAKSGRFRYITTRLEQLQQNSSSISKDAIVASELSPAEQQQRKLVDAYLQSQNASTRRLIEFVTERTFKCVVKDAQQEILLPSKASADAKVNEIKSTMLEEVFQELHEIFQDARENACQRWKEHVHQMLDRRIEHSLDGLLPSSTNAVLRSTYAHLIRVQAQTQLQQWLQSSVLQSTFYHGDLQELATKVCNCNRNKADAAAAGGGGSSELQLSPDIGFSLSEFLYQLQQWLHCLSLRPEYVGSQEDLAELLRKAQKAVLLPKMPTVFYHLIGSGLVHLLQLLITRKPNFLDKDIISASCSVWRSQQLMDSKASPGIFDGLISISFVQEMANSADSFRMLETILRSMLQSGAIRADHLNELFMPLFAENWSPKVWCMLSELLQQLSLSGKDSEAHYASGDSPEDEAKSHLFMEMLADLSRDLDNF
UniProt ID: Q8T626
Variant: K -> R at position 1069-1069
Variant annotation: in strain: Oregon-R
Protein function: Regulator of cell proliferation and cell survival of differentiated cells independent of cell division. Essential for imaginal disks formation. Not involved in cell polarity.
Reference sequence:
MTAELKASDTEMTKPEERHLLQLLAQLEKVPHHQLEQKFVAYFKKVGKGDNQSNCTLEDFATYFLGALRQSTKRYYYSQNSETPVFPLTPIHQLKPPVADVVKEEEQQQLNESSILSRSSCSMSSTSNTTPAPQQPQGRRSTPGSGAQFCSTPNRSGGGGAGGGHSICLGNFLVNTPIQSHQRSKKKITPQKQQQNQHASLGSGTGAGATPQSKPRRRVLPMTISKNVSASSSFGDTSSFSNENNFWRISQSSEIFDRSQEAALEMEARKFLLLKKQEIKSEAPVNVSQQERTPEDEVFPEEAISLEGVANANHLQLLSTIYSLLMDLNLVPNVLRELSFVVHLLNVRDFGQSPVKSYVPSALEGLTQHKSCVYFAAKLLENQKKLLLQLDKRTLSVLLQNERLSLLPQGVVQELETHCQRRQDSTTPFAMDTSSSSQQNVYYHVENDSRDNFPSQNEFGAFKSQRDLFYKALKRWEVSHLNRGFNFPSELGPRIMDIYKKSEHPVNMTHLAKLFVNQLLISATETTESPEELGLKLDPLRHNKLAQRLVTSSSSVEGQFPRSQAFFRDFIAVCSSVAFLVHLKLELFVQLMRNNDSTFDLLQLTDDVAVEEQSAQQGPYIVRVQTMANMLILAKFLGYVTVMPFSGTTQHGNPTPPYLCPQQLQLRNHFRPDFNLREILERSMRQGKLLITLPWLVQYLAMLDLVSLHLPDAVATLELLYGLYADIRMAKLQPAAVFIARSCIGWLLDAQPQLVNGYYNYRAQEAGVGSISAIVDICLKDLSCHDKSHAPLLDELLPVACPFLQEFRVSITPSRQAKSGRFRYITTRLEQLQQNSSSISKDAIVASELSPAEQQQRKLVDAYLQSQNASTRRLIEFVTERTFKCVVKDAQQEILLPSKASADAKVNEIKSTMLEEVFQELHEIFQDARENACQRWKEHVHQMLDRRIEHSLDGLLPSSTNAVLRSTYAHLIRVQAQTQLQQWLQSSVLQSTFYHGDLQELATKVCNCNRNKADAAAAGGGGSSELQLSPDIGFSLSEFLYQLQQWLHCLSLRPEYVGSQEDLAELLRKAQKAVLLPKMPTVFYHLIGSGLVHLLQLLITRKPNFLDKDIISASCSVWRSQQLMDSKASPGIFDGLISISFVQEMANSADSFRMLETILRSMLQSGAIRADHLNELFMPLFAENWSPKVWCMLSELLQQLSLSGKDSEAHYASGDSPEDEAKSHLFMEMLADLSRDLDNF
UniProt ID: Q8T626
Variant: A -> G at position 1146-1146
Variant annotation: in strain: Oregon-R
Protein function: Regulator of cell proliferation and cell survival of differentiated cells independent of cell division. Essential for imaginal disks formation. Not involved in cell polarity.
Reference sequence:
MTAELKASDTEMTKPEERHLLQLLAQLEKVPHHQLEQKFVAYFKKVGKGDNQSNCTLEDFATYFLGALRQSTKRYYYSQNSETPVFPLTPIHQLKPPVADVVKEEEQQQLNESSILSRSSCSMSSTSNTTPAPQQPQGRRSTPGSGAQFCSTPNRSGGGGAGGGHSICLGNFLVNTPIQSHQRSKKKITPQKQQQNQHASLGSGTGAGATPQSKPRRRVLPMTISKNVSASSSFGDTSSFSNENNFWRISQSSEIFDRSQEAALEMEARKFLLLKKQEIKSEAPVNVSQQERTPEDEVFPEEAISLEGVANANHLQLLSTIYSLLMDLNLVPNVLRELSFVVHLLNVRDFGQSPVKSYVPSALEGLTQHKSCVYFAAKLLENQKKLLLQLDKRTLSVLLQNERLSLLPQGVVQELETHCQRRQDSTTPFAMDTSSSSQQNVYYHVENDSRDNFPSQNEFGAFKSQRDLFYKALKRWEVSHLNRGFNFPSELGPRIMDIYKKSEHPVNMTHLAKLFVNQLLISATETTESPEELGLKLDPLRHNKLAQRLVTSSSSVEGQFPRSQAFFRDFIAVCSSVAFLVHLKLELFVQLMRNNDSTFDLLQLTDDVAVEEQSAQQGPYIVRVQTMANMLILAKFLGYVTVMPFSGTTQHGNPTPPYLCPQQLQLRNHFRPDFNLREILERSMRQGKLLITLPWLVQYLAMLDLVSLHLPDAVATLELLYGLYADIRMAKLQPAAVFIARSCIGWLLDAQPQLVNGYYNYRAQEAGVGSISAIVDICLKDLSCHDKSHAPLLDELLPVACPFLQEFRVSITPSRQAKSGRFRYITTRLEQLQQNSSSISKDAIVASELSPAEQQQRKLVDAYLQSQNASTRRLIEFVTERTFKCVVKDAQQEILLPSKASADAKVNEIKSTMLEEVFQELHEIFQDARENACQRWKEHVHQMLDRRIEHSLDGLLPSSTNAVLRSTYAHLIRVQAQTQLQQWLQSSVLQSTFYHGDLQELATKVCNCNRNKADAAAAGGGGSSELQLSPDIGFSLSEFLYQLQQWLHCLSLRPEYVGSQEDLAELLRKAQKAVLLPKMPTVFYHLIGSGLVHLLQLLITRKPNFLDKDIISASCSVWRSQQLMDSKASPGIFDGLISISFVQEMANSADSFRMLETILRSMLQSGAIRADHLNELFMPLFAENWSPKVWCMLSELLQQLSLSGKDSEAHYASGDSPEDEAKSHLFMEMLADLSRDLDNF
UniProt ID: Q8T626
Variant: A -> T at position 1167-1167
Variant annotation: in strain: Oregon-R
Protein function: Regulator of cell proliferation and cell survival of differentiated cells independent of cell division. Essential for imaginal disks formation. Not involved in cell polarity.
Reference sequence:
MTAELKASDTEMTKPEERHLLQLLAQLEKVPHHQLEQKFVAYFKKVGKGDNQSNCTLEDFATYFLGALRQSTKRYYYSQNSETPVFPLTPIHQLKPPVADVVKEEEQQQLNESSILSRSSCSMSSTSNTTPAPQQPQGRRSTPGSGAQFCSTPNRSGGGGAGGGHSICLGNFLVNTPIQSHQRSKKKITPQKQQQNQHASLGSGTGAGATPQSKPRRRVLPMTISKNVSASSSFGDTSSFSNENNFWRISQSSEIFDRSQEAALEMEARKFLLLKKQEIKSEAPVNVSQQERTPEDEVFPEEAISLEGVANANHLQLLSTIYSLLMDLNLVPNVLRELSFVVHLLNVRDFGQSPVKSYVPSALEGLTQHKSCVYFAAKLLENQKKLLLQLDKRTLSVLLQNERLSLLPQGVVQELETHCQRRQDSTTPFAMDTSSSSQQNVYYHVENDSRDNFPSQNEFGAFKSQRDLFYKALKRWEVSHLNRGFNFPSELGPRIMDIYKKSEHPVNMTHLAKLFVNQLLISATETTESPEELGLKLDPLRHNKLAQRLVTSSSSVEGQFPRSQAFFRDFIAVCSSVAFLVHLKLELFVQLMRNNDSTFDLLQLTDDVAVEEQSAQQGPYIVRVQTMANMLILAKFLGYVTVMPFSGTTQHGNPTPPYLCPQQLQLRNHFRPDFNLREILERSMRQGKLLITLPWLVQYLAMLDLVSLHLPDAVATLELLYGLYADIRMAKLQPAAVFIARSCIGWLLDAQPQLVNGYYNYRAQEAGVGSISAIVDICLKDLSCHDKSHAPLLDELLPVACPFLQEFRVSITPSRQAKSGRFRYITTRLEQLQQNSSSISKDAIVASELSPAEQQQRKLVDAYLQSQNASTRRLIEFVTERTFKCVVKDAQQEILLPSKASADAKVNEIKSTMLEEVFQELHEIFQDARENACQRWKEHVHQMLDRRIEHSLDGLLPSSTNAVLRSTYAHLIRVQAQTQLQQWLQSSVLQSTFYHGDLQELATKVCNCNRNKADAAAAGGGGSSELQLSPDIGFSLSEFLYQLQQWLHCLSLRPEYVGSQEDLAELLRKAQKAVLLPKMPTVFYHLIGSGLVHLLQLLITRKPNFLDKDIISASCSVWRSQQLMDSKASPGIFDGLISISFVQEMANSADSFRMLETILRSMLQSGAIRADHLNELFMPLFAENWSPKVWCMLSELLQQLSLSGKDSEAHYASGDSPEDEAKSHLFMEMLADLSRDLDNF
UniProt ID: Q8T626
Variant: A -> D at position 1209-1209
Variant annotation: in strain: 2b
Protein function: Regulator of cell proliferation and cell survival of differentiated cells independent of cell division. Essential for imaginal disks formation. Not involved in cell polarity.
Reference sequence:
MTAELKASDTEMTKPEERHLLQLLAQLEKVPHHQLEQKFVAYFKKVGKGDNQSNCTLEDFATYFLGALRQSTKRYYYSQNSETPVFPLTPIHQLKPPVADVVKEEEQQQLNESSILSRSSCSMSSTSNTTPAPQQPQGRRSTPGSGAQFCSTPNRSGGGGAGGGHSICLGNFLVNTPIQSHQRSKKKITPQKQQQNQHASLGSGTGAGATPQSKPRRRVLPMTISKNVSASSSFGDTSSFSNENNFWRISQSSEIFDRSQEAALEMEARKFLLLKKQEIKSEAPVNVSQQERTPEDEVFPEEAISLEGVANANHLQLLSTIYSLLMDLNLVPNVLRELSFVVHLLNVRDFGQSPVKSYVPSALEGLTQHKSCVYFAAKLLENQKKLLLQLDKRTLSVLLQNERLSLLPQGVVQELETHCQRRQDSTTPFAMDTSSSSQQNVYYHVENDSRDNFPSQNEFGAFKSQRDLFYKALKRWEVSHLNRGFNFPSELGPRIMDIYKKSEHPVNMTHLAKLFVNQLLISATETTESPEELGLKLDPLRHNKLAQRLVTSSSSVEGQFPRSQAFFRDFIAVCSSVAFLVHLKLELFVQLMRNNDSTFDLLQLTDDVAVEEQSAQQGPYIVRVQTMANMLILAKFLGYVTVMPFSGTTQHGNPTPPYLCPQQLQLRNHFRPDFNLREILERSMRQGKLLITLPWLVQYLAMLDLVSLHLPDAVATLELLYGLYADIRMAKLQPAAVFIARSCIGWLLDAQPQLVNGYYNYRAQEAGVGSISAIVDICLKDLSCHDKSHAPLLDELLPVACPFLQEFRVSITPSRQAKSGRFRYITTRLEQLQQNSSSISKDAIVASELSPAEQQQRKLVDAYLQSQNASTRRLIEFVTERTFKCVVKDAQQEILLPSKASADAKVNEIKSTMLEEVFQELHEIFQDARENACQRWKEHVHQMLDRRIEHSLDGLLPSSTNAVLRSTYAHLIRVQAQTQLQQWLQSSVLQSTFYHGDLQELATKVCNCNRNKADAAAAGGGGSSELQLSPDIGFSLSEFLYQLQQWLHCLSLRPEYVGSQEDLAELLRKAQKAVLLPKMPTVFYHLIGSGLVHLLQLLITRKPNFLDKDIISASCSVWRSQQLMDSKASPGIFDGLISISFVQEMANSADSFRMLETILRSMLQSGAIRADHLNELFMPLFAENWSPKVWCMLSELLQQLSLSGKDSEAHYASGDSPEDEAKSHLFMEMLADLSRDLDNF
UniProt ID: Q8TAB3
Variant: L -> P at position 25-25
Variant annotation: in DEE9
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: V -> G at position 72-72
Variant annotation: in DEE9
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: L -> R at position 81-81
Variant annotation: in DEE9; dbSNP:rs1569316056
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: D -> N at position 121-121
Variant annotation: in DEE9; disease features overlapping with Dravet syndrome; dbSNP:rs796052795
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: A -> ASEA at position 141-141
Variant annotation: in DEE9
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: T -> R at position 146-146
Variant annotation: in DEE9; dbSNP:rs796052799
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: A -> T at position 153-153
Variant annotation: in DEE9
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: L -> R at position 190-190
Variant annotation: in DEE9
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: V -> L at position 191-191
Variant annotation: in DEE9; dbSNP:rs753757730
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL
UniProt ID: Q8TAB3
Variant: E -> Q at position 199-199
Variant annotation: in DEE9; disease features overlapping with Dravet syndrome
Protein function: Potential calcium-dependent cell-adhesion protein.
Reference sequence:
MESLLLPVLLLLAILWTQAAALINLKYSVEEEQRAGTVIANVAKDAREAGFALDPRQASAFRVVSNSAPHLVDINPSSGLLVTKQKIDRDLLCRQSPKCIISLEVMSSSMEICVIKVEIKDLNDNAPSFPAAQIELEISEAASPGTRIPLDSAYDPDSGSFGVQTYELTPNELFGLEIKTRGDGSRFAELVVEKSLDRETQSHYSFRITALDGGDPPRLGTVGLSIKVTDSNDNNPVFSESTYAVSVPENSPPNTPVIRLNASDPDEGTNGQVVYSFYGYVNDRTRELFQIDPHSGLVTVTGALDYEEGHVYELDVQAKDLGPNSIPAHCKVTVSVLDTNDNPPVINLLSVNSELVEVSESAPPGYVIALVRVSDRDSGLNGRVQCRLLGNVPFRLQEYESFSTILVDGRLDREQHDQYNLTIQARDGGVPMLQSAKSFTVLITDENDNHPHFSKPYYQVIVQENNTPGAYLLSVSARDPDLGLNGSVSYQIVPSQVRDMPVFTYVSINPNSGDIYALRSFNHEQTKAFEFKVLAKDGGLPSLQSNATVRVIILDVNDNTPVITAPPLINGTAEVYIPRNSGIGYLVTVVKAEDYDEGENGRVTYDMTEGDRGFFEIDQVNGEVRTTRTFGESSKSSYELIVVAHDHGKTSLSASALVLIYLSPALDAQESMGSVNLSLIFIIALGSIAGILFVTMIFVAIKCKRDNKEIRTYNCSNCLTITCLLGCFIKGQNSKCLHCISVSPISEEQDKKTEEKVSLRGKRIAEYSYGHQKKSSKKKKISKNDIRLVPRDVEETDKMNVVSCSSLTSSLNYFDYHQQTLPLGCRRSESTFLNVENQNTRNTSANHIYHHSFNSQGPQQPDLIINGVPLPETENYSFDSNYVNSRAHLIKSSSTFKDLEGNSLKDSGHEESDQTDSEHDVQRSLYCDTAVNDVLNTSVTSMGSQMPDHDQNEGFHCREECRILGHSDRCWMPRNPMPIRSKSPEHVRNIIALSIEATAADVEAYDDCGPTKRTFATFGKDVSDHPAEERPTLKGKRTVDVTICSPKVNSVIREAGNGCEAISPVTSPLHLKSSLPTKPSVSYTIALAPPARDLEQYVNNVNNGPTRPSEAEPRGADSEKVMHEVSPILKEGRNKESPGVKRLKDIVL