sujigwak/NVAR huggingface dataset:
UniProt ID: P18089
Variant: HGGAL -> QFGR at position 225-229
Variant annotation: in FAME2; gain of function; decreases interaction with PPP1R9B upon activation by neurotransmitter
Effect: gain
Target: function
Protein function: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol.
Reference sequence:
MDHQDPYSVQATAAIAAAITFLILFTIFGNALVILAVLTSRSLRAPQNLFLVSLAAADILVATLIIPFSLANELLGYWYFRRTWCEVYLALDVLFCTSSIVHLCAISLDRYWAVSRALEYNSKRTPRRIKCIILTVWLIAAVISLPPLIYKGDQGPQPRGRPQCKLNQEAWYILASSIGSFFAPCLIMILVYLRIYLIAKRSNRRGPRAKGGPGQGESKQPRPDHGGALASAKLPALASVASAREVNGHSKSTGEKEEGETPEDTGTRALPPSWAALPNSGQGQKEGVCGASPEDEAEEEEEEEEEEEECEPQAVPVSPASACSPPLQQPQGSRVLATLRGQVLLGRGVGAIGGQWWRRRAQLTREKRFTFVLAVVIGVFVLCWFPFFFSYSLGAICPKHCKVPHGLFQFFFWIGYCNSSLNPVIYTIFNQDFRRAFRRILCRPWTQTAW
UniProt ID: P18089
Variant: V -> I at position 376-376
Variant annotation: in dbSNP:rs1431850417
Protein function: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol.
Reference sequence:
MDHQDPYSVQATAAIAAAITFLILFTIFGNALVILAVLTSRSLRAPQNLFLVSLAAADILVATLIIPFSLANELLGYWYFRRTWCEVYLALDVLFCTSSIVHLCAISLDRYWAVSRALEYNSKRTPRRIKCIILTVWLIAAVISLPPLIYKGDQGPQPRGRPQCKLNQEAWYILASSIGSFFAPCLIMILVYLRIYLIAKRSNRRGPRAKGGPGQGESKQPRPDHGGALASAKLPALASVASAREVNGHSKSTGEKEEGETPEDTGTRALPPSWAALPNSGQGQKEGVCGASPEDEAEEEEEEEEEEEECEPQAVPVSPASACSPPLQQPQGSRVLATLRGQVLLGRGVGAIGGQWWRRRAQLTREKRFTFVLAVVIGVFVLCWFPFFFSYSLGAICPKHCKVPHGLFQFFFWIGYCNSSLNPVIYTIFNQDFRRAFRRILCRPWTQTAW
UniProt ID: P18089
Variant: V -> G at position 379-379
Variant annotation: in dbSNP:rs527655811
Protein function: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol.
Reference sequence:
MDHQDPYSVQATAAIAAAITFLILFTIFGNALVILAVLTSRSLRAPQNLFLVSLAAADILVATLIIPFSLANELLGYWYFRRTWCEVYLALDVLFCTSSIVHLCAISLDRYWAVSRALEYNSKRTPRRIKCIILTVWLIAAVISLPPLIYKGDQGPQPRGRPQCKLNQEAWYILASSIGSFFAPCLIMILVYLRIYLIAKRSNRRGPRAKGGPGQGESKQPRPDHGGALASAKLPALASVASAREVNGHSKSTGEKEEGETPEDTGTRALPPSWAALPNSGQGQKEGVCGASPEDEAEEEEEEEEEEEECEPQAVPVSPASACSPPLQQPQGSRVLATLRGQVLLGRGVGAIGGQWWRRRAQLTREKRFTFVLAVVIGVFVLCWFPFFFSYSLGAICPKHCKVPHGLFQFFFWIGYCNSSLNPVIYTIFNQDFRRAFRRILCRPWTQTAW
UniProt ID: P18089
Variant: V -> I at position 379-379
Variant annotation: in dbSNP:rs29000569
Protein function: Alpha-2 adrenergic receptors mediate the catecholamine-induced inhibition of adenylate cyclase through the action of G proteins. The rank order of potency for agonists of this receptor is clonidine > norepinephrine > epinephrine = oxymetazoline > dopamine > p-tyramine = phenylephrine > serotonin > p-synephrine / p-octopamine. For antagonists, the rank order is yohimbine > chlorpromazine > phentolamine > mianserine > spiperone > prazosin > alprenolol > propanolol > pindolol.
Reference sequence:
MDHQDPYSVQATAAIAAAITFLILFTIFGNALVILAVLTSRSLRAPQNLFLVSLAAADILVATLIIPFSLANELLGYWYFRRTWCEVYLALDVLFCTSSIVHLCAISLDRYWAVSRALEYNSKRTPRRIKCIILTVWLIAAVISLPPLIYKGDQGPQPRGRPQCKLNQEAWYILASSIGSFFAPCLIMILVYLRIYLIAKRSNRRGPRAKGGPGQGESKQPRPDHGGALASAKLPALASVASAREVNGHSKSTGEKEEGETPEDTGTRALPPSWAALPNSGQGQKEGVCGASPEDEAEEEEEEEEEEEECEPQAVPVSPASACSPPLQQPQGSRVLATLRGQVLLGRGVGAIGGQWWRRRAQLTREKRFTFVLAVVIGVFVLCWFPFFFSYSLGAICPKHCKVPHGLFQFFFWIGYCNSSLNPVIYTIFNQDFRRAFRRILCRPWTQTAW
UniProt ID: P18105
Variant: S -> N at position 94-94
Variant annotation: in allele NOD(DTW)
Protein function: Required for the distributive chromosome segregation of non-exchange chromosomes during meiosis. May be a microtubule motor required to hold distributively 'paired' chromosomes at the metaphase plate until anaphase.
Reference sequence:
MEGAKLSAVRIAVREAPYRQFLGRREPSVVQFPPWSDGKSLIVDQNEFHFDHAFPATISQDEMYQALILPLVDKLLEGFQCTALAYGQTGTGKSYSMGMTPPGEILPEHLGILPRALGDIFERVTARQENNKDAIQVYASFIEIYNEKPFDLLGSTPHMPMVAARCQRCTCLPLHSQADLHHILELGTRNRRVRPTNMNSNSSRSHAIVTIHVKSKTHHSRMNIVDLAGSEGVRRTGHEGVARQEGVNINLGLLSINKVVMSMAAGHTVIPYRDSVLTTVLQASLTAQSYLTFLACISPHQCDLSETLSTLRFGTSAKKLRLNPMQVARQKQSLAARTTHVFRQALCTSTAIKSNAANHNSIVVPKSKYSTTKPLSAVLHRTRSELGMTPKAKKRARELLELEETTLELSSIHIQDSSLSLLGFHSDSDKDRHLMPPPTGQEPRQASSQNSTLMGIVEETEPKESSKVQQSMVAPTVPTTVRCQLFNTTISPISLRASSSQRELSGIQPMEETVVASPQQPCLRRSVRLASSMRSQNYGAIPKVMNLRRSTRLAGIREHATSVVVKNETDAIPHLRSTVQKKRTRNVKPAPKAWMANNTKCFLDLLNNGNVKQLQEIPGIGPKSAFSLALHRSRLGCFENLFQVKSLPIWSGNKWERFCQINCLDT
UniProt ID: P18170
Variant: M -> V at position 627-627
Variant annotation: in allele DEC-1-FC3
Protein function: Required for proper assembly of the eggshell.
Reference sequence:
MRLFSLLPLLALLVVQAAGQSEVTSDDPATDAGSTTNSTTDTKPRIPSQDEILGQMPSINPIRTGNPQMDAFYMMFPALGSLLKWGSLFPAYSILGAIPDNLQPTAAASKVVLVLADDATAKTRVARQNPPPNPLGQLMNWPALPQDFQLPSMDLGPQVGSFLAQLPAMPTVPGLLGAAAPVPAPAPAPAAAPPPAPAPAADPPAAPVPDAPQPAILGQAALQNAFTFFNPANFDASSLLGQSVPTFAPPNLDFVAQMQRQFFPGMTPAQPAAAGTDAQASDISEVRVRPEDPYSQEAQMKIKSALEMEQERQQQAQVKDQEQVPLLWFRMPTTQNQDATEEKTLEDLRVEAKLRAFERQVIAELRMLQKIELMAKQMRSSAAAQNGDSPYRISYPLSRTPIHKITRADIEQALRDDYVRRLVNKEAQRRARNSGINTQKANALKRQAKSQDQTLSKEDIVQIMAYAYRMANEQMESEKGKQDKVYAAYRTEQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMVQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQHDQQMAQQMAQQGLMMTEQRQRQWSEDQAKIQQAQQMAQQTPMMMPQMQQRQWTEDPQMVQQMQQRQWAEDQTRMQMAQQNPMMQQQRQMAENPQMMQQRQWSEEQTKIEQAQQMAQQNQMMMQQMQQRQWSEDQAQIQQQQRQMMQQTPMMMKERQWAEENPQSVQQQGPMMMQQQMPSMMQREVEDEDNKAEDDLVGEAGPQMPENEGTARHKVDALGVGGNKRKKSKSKSAPPTVINYYYAAPQRPVVQSYGTSYGGGGYGSNAYGVPRPVNSYQSQGYRAAVGNDEVDEMLRQHQTMARATHFRQ
UniProt ID: P18170
Variant: Q -> H at position 644-644
Variant annotation: in allele DEC-1-FC4
Protein function: Required for proper assembly of the eggshell.
Reference sequence:
MRLFSLLPLLALLVVQAAGQSEVTSDDPATDAGSTTNSTTDTKPRIPSQDEILGQMPSINPIRTGNPQMDAFYMMFPALGSLLKWGSLFPAYSILGAIPDNLQPTAAASKVVLVLADDATAKTRVARQNPPPNPLGQLMNWPALPQDFQLPSMDLGPQVGSFLAQLPAMPTVPGLLGAAAPVPAPAPAPAAAPPPAPAPAADPPAAPVPDAPQPAILGQAALQNAFTFFNPANFDASSLLGQSVPTFAPPNLDFVAQMQRQFFPGMTPAQPAAAGTDAQASDISEVRVRPEDPYSQEAQMKIKSALEMEQERQQQAQVKDQEQVPLLWFRMPTTQNQDATEEKTLEDLRVEAKLRAFERQVIAELRMLQKIELMAKQMRSSAAAQNGDSPYRISYPLSRTPIHKITRADIEQALRDDYVRRLVNKEAQRRARNSGINTQKANALKRQAKSQDQTLSKEDIVQIMAYAYRMANEQMESEKGKQDKVYAAYRTEQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMVQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQHDQQMAQQMAQQGLMMTEQRQRQWSEDQAKIQQAQQMAQQTPMMMPQMQQRQWTEDPQMVQQMQQRQWAEDQTRMQMAQQNPMMQQQRQMAENPQMMQQRQWSEEQTKIEQAQQMAQQNQMMMQQMQQRQWSEDQAQIQQQQRQMMQQTPMMMKERQWAEENPQSVQQQGPMMMQQQMPSMMQREVEDEDNKAEDDLVGEAGPQMPENEGTARHKVDALGVGGNKRKKSKSKSAPPTVINYYYAAPQRPVVQSYGTSYGGGGYGSNAYGVPRPVNSYQSQGYRAAVGNDEVDEMLRQHQTMARATHFRQ
UniProt ID: P18170
Variant: Q -> H at position 690-690
Variant annotation: in allele DEC-1-FC3
Protein function: Required for proper assembly of the eggshell.
Reference sequence:
MRLFSLLPLLALLVVQAAGQSEVTSDDPATDAGSTTNSTTDTKPRIPSQDEILGQMPSINPIRTGNPQMDAFYMMFPALGSLLKWGSLFPAYSILGAIPDNLQPTAAASKVVLVLADDATAKTRVARQNPPPNPLGQLMNWPALPQDFQLPSMDLGPQVGSFLAQLPAMPTVPGLLGAAAPVPAPAPAPAAAPPPAPAPAADPPAAPVPDAPQPAILGQAALQNAFTFFNPANFDASSLLGQSVPTFAPPNLDFVAQMQRQFFPGMTPAQPAAAGTDAQASDISEVRVRPEDPYSQEAQMKIKSALEMEQERQQQAQVKDQEQVPLLWFRMPTTQNQDATEEKTLEDLRVEAKLRAFERQVIAELRMLQKIELMAKQMRSSAAAQNGDSPYRISYPLSRTPIHKITRADIEQALRDDYVRRLVNKEAQRRARNSGINTQKANALKRQAKSQDQTLSKEDIVQIMAYAYRMANEQMESEKGKQDKVYAAYRTEQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQQNQQQIQQNPMMVQQRQWSEEQAKIQQNQQQIQQNPMMMQQRQWSEEQAKIQHDQQMAQQMAQQGLMMTEQRQRQWSEDQAKIQQAQQMAQQTPMMMPQMQQRQWTEDPQMVQQMQQRQWAEDQTRMQMAQQNPMMQQQRQMAENPQMMQQRQWSEEQTKIEQAQQMAQQNQMMMQQMQQRQWSEDQAQIQQQQRQMMQQTPMMMKERQWAEENPQSVQQQGPMMMQQQMPSMMQREVEDEDNKAEDDLVGEAGPQMPENEGTARHKVDALGVGGNKRKKSKSKSAPPTVINYYYAAPQRPVVQSYGTSYGGGGYGSNAYGVPRPVNSYQSQGYRAAVGNDEVDEMLRQHQTMARATHFRQ
UniProt ID: P18192
Variant: A -> T at position 37-37
Variant annotation: in strain: 71
Protein function: Involved in maceration and soft-rotting of plant tissue.
Reference sequence:
MEYQSGKRVLSLSLGLIGLFSASAFASDSRTVSEPKAPSSCTVLKADSSTATSTIQKALNNCGQGKAVKLSAGSSSVFLSGPLSLPSGVSLLIDKGVTLRAVNNAKSFENAPSSCGVVDTNGKGCDAFITATSTTNSGIYGPGTIDGQGGVKLQDKKVSWWDLAADAKVKKLKQNTPRLIQINKSKNFTLYNVSLINSPNFHVVFSDGDGFTAWKTTIKTPSTARNTDGIDPMSSKNITIAHSNISTGDDNVAIKAYKGRSETRNISILHNEFGTGHGMSIGSETMGVYNVTVDDLIMTGTTNGLRIKSDKSAAGVVNGVRYSNVVMKNVAKPIVIDTVYEKKEGSNVPDWSDITFKDITSQTKGVVVLNGENAKKPIEVTMKNVKLTSDSTWQIKNVTVKK
UniProt ID: P18192
Variant: I -> V at position 297-297
Variant annotation: in strain: 71
Protein function: Involved in maceration and soft-rotting of plant tissue.
Reference sequence:
MEYQSGKRVLSLSLGLIGLFSASAFASDSRTVSEPKAPSSCTVLKADSSTATSTIQKALNNCGQGKAVKLSAGSSSVFLSGPLSLPSGVSLLIDKGVTLRAVNNAKSFENAPSSCGVVDTNGKGCDAFITATSTTNSGIYGPGTIDGQGGVKLQDKKVSWWDLAADAKVKKLKQNTPRLIQINKSKNFTLYNVSLINSPNFHVVFSDGDGFTAWKTTIKTPSTARNTDGIDPMSSKNITIAHSNISTGDDNVAIKAYKGRSETRNISILHNEFGTGHGMSIGSETMGVYNVTVDDLIMTGTTNGLRIKSDKSAAGVVNGVRYSNVVMKNVAKPIVIDTVYEKKEGSNVPDWSDITFKDITSQTKGVVVLNGENAKKPIEVTMKNVKLTSDSTWQIKNVTVKK
UniProt ID: P18192
Variant: T -> N at position 399-399
Variant annotation: in strain: 71
Protein function: Involved in maceration and soft-rotting of plant tissue.
Reference sequence:
MEYQSGKRVLSLSLGLIGLFSASAFASDSRTVSEPKAPSSCTVLKADSSTATSTIQKALNNCGQGKAVKLSAGSSSVFLSGPLSLPSGVSLLIDKGVTLRAVNNAKSFENAPSSCGVVDTNGKGCDAFITATSTTNSGIYGPGTIDGQGGVKLQDKKVSWWDLAADAKVKKLKQNTPRLIQINKSKNFTLYNVSLINSPNFHVVFSDGDGFTAWKTTIKTPSTARNTDGIDPMSSKNITIAHSNISTGDDNVAIKAYKGRSETRNISILHNEFGTGHGMSIGSETMGVYNVTVDDLIMTGTTNGLRIKSDKSAAGVVNGVRYSNVVMKNVAKPIVIDTVYEKKEGSNVPDWSDITFKDITSQTKGVVVLNGENAKKPIEVTMKNVKLTSDSTWQIKNVTVKK
UniProt ID: P18206
Variant: V -> L at position 234-234
Variant annotation: in dbSNP:rs17853882
Protein function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.
Reference sequence:
MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASKDTEAMKRALASIDSKLNQAKGWLRDPSASPGDAGEQAIRQILDEAGKVGELCAGKERREILGTCKMLGQMTDQVADLRARGQGSSPVAMQKAQQVSQGLDVLTAKVENAARKLEAMTNSKQSIAKKIDAAQNWLADPNGGPEGEEQIRGALAEARKIAELCDDPKERDDILRSLGEISALTSKLADLRRQGKGDSPEARALAKQVATALQNLQTKTNRAVANSRPAKAAVHLEGKIEQAQRWIDNPTVDDRGVGQAAIRGLVAEGHRLANVMMGPYRQDLLAKCDRVDQLTAQLADLAARGEGESPQARALASQLQDSLKDLKARMQEAMTQEVSDVFSDTTTPIKLLAVAATAPPDAPNREEVFDERAANFENHSGKLGATAEKAAAVGTANKSTVEGIQASVKTARELTPQVVSAARILLRNPGNQAAYEHFETMKNQWIDNVEKMTGLVDEAIDTKSLLDASEEAIKKDLDKCKVAMANIQPQMLVAGATSIARRANRILLVAKREVENSEDPKFREAVKAASDELSKTISPMVMDAKAVAGNISDPGLQKSFLDSGYRILGAVAKVREAFQPQEPDFPPPPPDLEQLRLTDELAPPKPPLPEGEVPPPRPPPPEEKDEEFPEQKAGEVINQPMMMAARQLHDEARKWSSKPGIPAAEVGIGVVAEADAADAAGFPVPPDMEDDYEPELLLMPSNQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMALLMAEMSRLVRGGSGTKRALIQCAKDIAKASDEVTRLAKEVAKQCTDKRIRTNLLQVCERIPTISTQLKILSTVKATMLGRTNISDEESEQATEMLVHNAQNLMQSVKETVREAEAASIKIRTDAGFTLRWVRKTPWYQ
UniProt ID: P18206
Variant: L -> M at position 277-277
Variant annotation: in CMH15; dbSNP:rs71579353
Protein function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.
Reference sequence:
MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASKDTEAMKRALASIDSKLNQAKGWLRDPSASPGDAGEQAIRQILDEAGKVGELCAGKERREILGTCKMLGQMTDQVADLRARGQGSSPVAMQKAQQVSQGLDVLTAKVENAARKLEAMTNSKQSIAKKIDAAQNWLADPNGGPEGEEQIRGALAEARKIAELCDDPKERDDILRSLGEISALTSKLADLRRQGKGDSPEARALAKQVATALQNLQTKTNRAVANSRPAKAAVHLEGKIEQAQRWIDNPTVDDRGVGQAAIRGLVAEGHRLANVMMGPYRQDLLAKCDRVDQLTAQLADLAARGEGESPQARALASQLQDSLKDLKARMQEAMTQEVSDVFSDTTTPIKLLAVAATAPPDAPNREEVFDERAANFENHSGKLGATAEKAAAVGTANKSTVEGIQASVKTARELTPQVVSAARILLRNPGNQAAYEHFETMKNQWIDNVEKMTGLVDEAIDTKSLLDASEEAIKKDLDKCKVAMANIQPQMLVAGATSIARRANRILLVAKREVENSEDPKFREAVKAASDELSKTISPMVMDAKAVAGNISDPGLQKSFLDSGYRILGAVAKVREAFQPQEPDFPPPPPDLEQLRLTDELAPPKPPLPEGEVPPPRPPPPEEKDEEFPEQKAGEVINQPMMMAARQLHDEARKWSSKPGIPAAEVGIGVVAEADAADAAGFPVPPDMEDDYEPELLLMPSNQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMALLMAEMSRLVRGGSGTKRALIQCAKDIAKASDEVTRLAKEVAKQCTDKRIRTNLLQVCERIPTISTQLKILSTVKATMLGRTNISDEESEQATEMLVHNAQNLMQSVKETVREAEAASIKIRTDAGFTLRWVRKTPWYQ
UniProt ID: P18206
Variant: A -> V at position 934-934
Variant annotation: in dbSNP:rs16931179
Protein function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.
Reference sequence:
MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASKDTEAMKRALASIDSKLNQAKGWLRDPSASPGDAGEQAIRQILDEAGKVGELCAGKERREILGTCKMLGQMTDQVADLRARGQGSSPVAMQKAQQVSQGLDVLTAKVENAARKLEAMTNSKQSIAKKIDAAQNWLADPNGGPEGEEQIRGALAEARKIAELCDDPKERDDILRSLGEISALTSKLADLRRQGKGDSPEARALAKQVATALQNLQTKTNRAVANSRPAKAAVHLEGKIEQAQRWIDNPTVDDRGVGQAAIRGLVAEGHRLANVMMGPYRQDLLAKCDRVDQLTAQLADLAARGEGESPQARALASQLQDSLKDLKARMQEAMTQEVSDVFSDTTTPIKLLAVAATAPPDAPNREEVFDERAANFENHSGKLGATAEKAAAVGTANKSTVEGIQASVKTARELTPQVVSAARILLRNPGNQAAYEHFETMKNQWIDNVEKMTGLVDEAIDTKSLLDASEEAIKKDLDKCKVAMANIQPQMLVAGATSIARRANRILLVAKREVENSEDPKFREAVKAASDELSKTISPMVMDAKAVAGNISDPGLQKSFLDSGYRILGAVAKVREAFQPQEPDFPPPPPDLEQLRLTDELAPPKPPLPEGEVPPPRPPPPEEKDEEFPEQKAGEVINQPMMMAARQLHDEARKWSSKPGIPAAEVGIGVVAEADAADAAGFPVPPDMEDDYEPELLLMPSNQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMALLMAEMSRLVRGGSGTKRALIQCAKDIAKASDEVTRLAKEVAKQCTDKRIRTNLLQVCERIPTISTQLKILSTVKATMLGRTNISDEESEQATEMLVHNAQNLMQSVKETVREAEAASIKIRTDAGFTLRWVRKTPWYQ
UniProt ID: P18206
Variant: P -> A at position 943-943
Variant annotation: in dbSNP:rs71579375
Protein function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.
Reference sequence:
MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASKDTEAMKRALASIDSKLNQAKGWLRDPSASPGDAGEQAIRQILDEAGKVGELCAGKERREILGTCKMLGQMTDQVADLRARGQGSSPVAMQKAQQVSQGLDVLTAKVENAARKLEAMTNSKQSIAKKIDAAQNWLADPNGGPEGEEQIRGALAEARKIAELCDDPKERDDILRSLGEISALTSKLADLRRQGKGDSPEARALAKQVATALQNLQTKTNRAVANSRPAKAAVHLEGKIEQAQRWIDNPTVDDRGVGQAAIRGLVAEGHRLANVMMGPYRQDLLAKCDRVDQLTAQLADLAARGEGESPQARALASQLQDSLKDLKARMQEAMTQEVSDVFSDTTTPIKLLAVAATAPPDAPNREEVFDERAANFENHSGKLGATAEKAAAVGTANKSTVEGIQASVKTARELTPQVVSAARILLRNPGNQAAYEHFETMKNQWIDNVEKMTGLVDEAIDTKSLLDASEEAIKKDLDKCKVAMANIQPQMLVAGATSIARRANRILLVAKREVENSEDPKFREAVKAASDELSKTISPMVMDAKAVAGNISDPGLQKSFLDSGYRILGAVAKVREAFQPQEPDFPPPPPDLEQLRLTDELAPPKPPLPEGEVPPPRPPPPEEKDEEFPEQKAGEVINQPMMMAARQLHDEARKWSSKPGIPAAEVGIGVVAEADAADAAGFPVPPDMEDDYEPELLLMPSNQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMALLMAEMSRLVRGGSGTKRALIQCAKDIAKASDEVTRLAKEVAKQCTDKRIRTNLLQVCERIPTISTQLKILSTVKATMLGRTNISDEESEQATEMLVHNAQNLMQSVKETVREAEAASIKIRTDAGFTLRWVRKTPWYQ
UniProt ID: P18206
Variant: R -> W at position 975-975
Variant annotation: in CMD1W; significantly alters metavinculin-mediated cross-linking of actin filaments; dbSNP:rs121917776
Protein function: Actin filament (F-actin)-binding protein involved in cell-matrix adhesion and cell-cell adhesion. Regulates cell-surface E-cadherin expression and potentiates mechanosensing by the E-cadherin complex. May also play important roles in cell morphology and locomotion.
Reference sequence:
MPVFHTRTIESILEPVAQQISHLVIMHEEGEVDGKAIPDLTAPVAAVQAAVSNLVRVGKETVQTTEDQILKRDMPPAFIKVENACTKLVQAAQMLQSDPYSVPARDYLIDGSRGILSGTSDLLLTFDEAEVRKIIRVCKGILEYLTVAEVVETMEDLVTYTKNLGPGMTKMAKMIDERQQELTHQEHRVMLVNSMNTVKELLPVLISAMKIFVTTKNSKNQGIEEALKNRNFTVEKMSAEINEIIRVLQLTSWDEDAWASKDTEAMKRALASIDSKLNQAKGWLRDPSASPGDAGEQAIRQILDEAGKVGELCAGKERREILGTCKMLGQMTDQVADLRARGQGSSPVAMQKAQQVSQGLDVLTAKVENAARKLEAMTNSKQSIAKKIDAAQNWLADPNGGPEGEEQIRGALAEARKIAELCDDPKERDDILRSLGEISALTSKLADLRRQGKGDSPEARALAKQVATALQNLQTKTNRAVANSRPAKAAVHLEGKIEQAQRWIDNPTVDDRGVGQAAIRGLVAEGHRLANVMMGPYRQDLLAKCDRVDQLTAQLADLAARGEGESPQARALASQLQDSLKDLKARMQEAMTQEVSDVFSDTTTPIKLLAVAATAPPDAPNREEVFDERAANFENHSGKLGATAEKAAAVGTANKSTVEGIQASVKTARELTPQVVSAARILLRNPGNQAAYEHFETMKNQWIDNVEKMTGLVDEAIDTKSLLDASEEAIKKDLDKCKVAMANIQPQMLVAGATSIARRANRILLVAKREVENSEDPKFREAVKAASDELSKTISPMVMDAKAVAGNISDPGLQKSFLDSGYRILGAVAKVREAFQPQEPDFPPPPPDLEQLRLTDELAPPKPPLPEGEVPPPRPPPPEEKDEEFPEQKAGEVINQPMMMAARQLHDEARKWSSKPGIPAAEVGIGVVAEADAADAAGFPVPPDMEDDYEPELLLMPSNQPVNQPILAAAQSLHREATKWSSKGNDIIAAAKRMALLMAEMSRLVRGGSGTKRALIQCAKDIAKASDEVTRLAKEVAKQCTDKRIRTNLLQVCERIPTISTQLKILSTVKATMLGRTNISDEESEQATEMLVHNAQNLMQSVKETVREAEAASIKIRTDAGFTLRWVRKTPWYQ
UniProt ID: P18245
Variant: VQ -> IE at position 287-288
Protein function: Flagellin is the subunit protein which polymerizes to form the filaments of bacterial flagella.
Reference sequence:
MGFRINTNIGALNAHANSVVNARELDKSLSRLSSGLRINSAADDASGMAIADSLRSQAATLGQAINNGNDAIGILQTADKAMDEQLKILDTIKTKATQAAQDGQSLKTRTMLQADINRLMEELDNIANTTSFNGKQLLSGGFTNQEFQIGSSSNQTIKASIGATQSSKIGVTRFETGSQSFSSGTVGLTIKNYNGIEDFKFDSVVISTSVGTGLGALAEEINRNADKTGIRATFDVKSVGAYAIKAGNTSQDFAINGVVIGQINYNDGDNNGQLISAINAVKDTTGVQASKDENGKLVLTSADGRGIKITGSIGVGAGILHTENYGRLSLVKNDGRDINISGTGLSAIGMGATDMISQSSVSLRESKGQISAANADAMGFNAYNGGGAKQIIFASSIAGFMSQAGSGFSAGSGFSVGSGKNYSAILSASIQIVSSARSISSTYVVSTGSGFSAGSGNSQFAALRISTVSAHDETAGVTTLKGAMAVMDIAETAITNLDQIRADIGAVQNQLQVTINNITVTQVNVKAAESTIRDVDFAAESANFSKYNILAQSGSYAMSQRNAVQQNVLKLLQ
UniProt ID: P18245
Variant: A -> R at position 302-302
Protein function: Flagellin is the subunit protein which polymerizes to form the filaments of bacterial flagella.
Reference sequence:
MGFRINTNIGALNAHANSVVNARELDKSLSRLSSGLRINSAADDASGMAIADSLRSQAATLGQAINNGNDAIGILQTADKAMDEQLKILDTIKTKATQAAQDGQSLKTRTMLQADINRLMEELDNIANTTSFNGKQLLSGGFTNQEFQIGSSSNQTIKASIGATQSSKIGVTRFETGSQSFSSGTVGLTIKNYNGIEDFKFDSVVISTSVGTGLGALAEEINRNADKTGIRATFDVKSVGAYAIKAGNTSQDFAINGVVIGQINYNDGDNNGQLISAINAVKDTTGVQASKDENGKLVLTSADGRGIKITGSIGVGAGILHTENYGRLSLVKNDGRDINISGTGLSAIGMGATDMISQSSVSLRESKGQISAANADAMGFNAYNGGGAKQIIFASSIAGFMSQAGSGFSAGSGFSVGSGKNYSAILSASIQIVSSARSISSTYVVSTGSGFSAGSGNSQFAALRISTVSAHDETAGVTTLKGAMAVMDIAETAITNLDQIRADIGAVQNQLQVTINNITVTQVNVKAAESTIRDVDFAAESANFSKYNILAQSGSYAMSQRNAVQQNVLKLLQ
UniProt ID: P18427
Variant: K -> R at position 73-73
Variant annotation: in strain: Sprague-Dawley
Protein function: Together with the alpha chain CGA constitutes follitropin, the follicle-stimulating hormone, and provides its biological specificity to the hormone heterodimer. Binds FSHR, a G protein-coupled receptor, on target cells to activate downstream signaling pathways. Follitropin is involved in follicle development and spermatogenesis in reproductive organs.
Reference sequence:
MMKSIQLCILLWCLRAVCCHSCELTNITISVEKEECRFCISINTTWCEGYCYTRDLVYKDPARPNTQKVCTFKELVYETIRLPGCARHSDSLYTYPVATECHCGKCDSDSTDCTVRGLGPSYCSFGEMKE
UniProt ID: P18428
Variant: P -> L at position 9-9
Variant annotation: in dbSNP:rs2232580
Protein function: Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria . Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide .
Reference sequence:
MGALARALPSILLALLLTSTPEALGANPGLVARITDKGLQYAAQEGLLALQSELLRITLPDFTGDLRIPHVGRGRYEFHSLNIHSCELLHSALRPVPGQGLSLSISDSSIRVQGRWKVRKSFFKLQGSFDVSVKGISISVNLLLGSESSGRPTVTASSCSSDIADVEVDMSGDLGWLLNLFHNQIESKFQKVLESRICEMIQKSVSSDLQPYLQTLPVTTEIDSFADIDYSLVEAPRATAQMLEVMFKGEIFHRNHRSPVTLLAAVMSLPEEHNKMVYFAISDYVFNTASLVYHEEGYLNFSITDDMIPPDSNIRLTTKSFRPFVPRLARLYPNMNLELQGSVPSAPLLNFSPGNLSVDPYMEIDAFVLLPSSSKEPVFRLSVATNVSATLTFNTSKITGFLKPGKVKVELKESKVGLFNAELLEALLNYYILNTFYPKFNDKLAEGFPLPLLKRVQLYDLGLQIHKDFLFLGANVQYMRV
UniProt ID: P18428
Variant: R -> Q at position 111-111
Variant annotation: in dbSNP:rs2232583
Protein function: Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria . Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide .
Reference sequence:
MGALARALPSILLALLLTSTPEALGANPGLVARITDKGLQYAAQEGLLALQSELLRITLPDFTGDLRIPHVGRGRYEFHSLNIHSCELLHSALRPVPGQGLSLSISDSSIRVQGRWKVRKSFFKLQGSFDVSVKGISISVNLLLGSESSGRPTVTASSCSSDIADVEVDMSGDLGWLLNLFHNQIESKFQKVLESRICEMIQKSVSSDLQPYLQTLPVTTEIDSFADIDYSLVEAPRATAQMLEVMFKGEIFHRNHRSPVTLLAAVMSLPEEHNKMVYFAISDYVFNTASLVYHEEGYLNFSITDDMIPPDSNIRLTTKSFRPFVPRLARLYPNMNLELQGSVPSAPLLNFSPGNLSVDPYMEIDAFVLLPSSSKEPVFRLSVATNVSATLTFNTSKITGFLKPGKVKVELKESKVGLFNAELLEALLNYYILNTFYPKFNDKLAEGFPLPLLKRVQLYDLGLQIHKDFLFLGANVQYMRV
UniProt ID: P18428
Variant: L -> I at position 125-125
Variant annotation: in dbSNP:rs2232585
Protein function: Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria . Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide .
Reference sequence:
MGALARALPSILLALLLTSTPEALGANPGLVARITDKGLQYAAQEGLLALQSELLRITLPDFTGDLRIPHVGRGRYEFHSLNIHSCELLHSALRPVPGQGLSLSISDSSIRVQGRWKVRKSFFKLQGSFDVSVKGISISVNLLLGSESSGRPTVTASSCSSDIADVEVDMSGDLGWLLNLFHNQIESKFQKVLESRICEMIQKSVSSDLQPYLQTLPVTTEIDSFADIDYSLVEAPRATAQMLEVMFKGEIFHRNHRSPVTLLAAVMSLPEEHNKMVYFAISDYVFNTASLVYHEEGYLNFSITDDMIPPDSNIRLTTKSFRPFVPRLARLYPNMNLELQGSVPSAPLLNFSPGNLSVDPYMEIDAFVLLPSSSKEPVFRLSVATNVSATLTFNTSKITGFLKPGKVKVELKESKVGLFNAELLEALLNYYILNTFYPKFNDKLAEGFPLPLLKRVQLYDLGLQIHKDFLFLGANVQYMRV
UniProt ID: P18428
Variant: E -> K at position 147-147
Variant annotation: in dbSNP:rs36015492
Protein function: Plays a role in the innate immune response. Binds to the lipid A moiety of bacterial lipopolysaccharides (LPS), a glycolipid present in the outer membrane of all Gram-negative bacteria . Acts as an affinity enhancer for CD14, facilitating its association with LPS. Promotes the release of cytokines in response to bacterial lipopolysaccharide .
Reference sequence:
MGALARALPSILLALLLTSTPEALGANPGLVARITDKGLQYAAQEGLLALQSELLRITLPDFTGDLRIPHVGRGRYEFHSLNIHSCELLHSALRPVPGQGLSLSISDSSIRVQGRWKVRKSFFKLQGSFDVSVKGISISVNLLLGSESSGRPTVTASSCSSDIADVEVDMSGDLGWLLNLFHNQIESKFQKVLESRICEMIQKSVSSDLQPYLQTLPVTTEIDSFADIDYSLVEAPRATAQMLEVMFKGEIFHRNHRSPVTLLAAVMSLPEEHNKMVYFAISDYVFNTASLVYHEEGYLNFSITDDMIPPDSNIRLTTKSFRPFVPRLARLYPNMNLELQGSVPSAPLLNFSPGNLSVDPYMEIDAFVLLPSSSKEPVFRLSVATNVSATLTFNTSKITGFLKPGKVKVELKESKVGLFNAELLEALLNYYILNTFYPKFNDKLAEGFPLPLLKRVQLYDLGLQIHKDFLFLGANVQYMRV