sujigwak/NVAR huggingface dataset:
UniProt ID: Q04473
Variant: S -> N at position 213-213
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN
UniProt ID: Q04473
Variant: T -> A at position 416-416
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN
UniProt ID: Q04473
Variant: F -> K at position 469-469
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN
UniProt ID: Q04473
Variant: L -> Q at position 606-606
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN
UniProt ID: Q04473
Variant: S -> R at position 638-638
Variant annotation: in serotype 8
Protein function: Involved in the transport of the toxin RTX-III.
Reference sequence:
MESQMPFNEKIDYGLHALVILAQYHNVAVNPEEVKHKFDLDGKGLDLVAWLLAAKSLELKMKRVKKSIERLPFIHLPALIWRDDGQHVILMKIDTQTNRYLIFDLEERNPKVLSAAEFHEIFQGGMILITSRASIMGQLAKFDFTWFIPAVIKYRKIFVETIIVSIFLQLFALITPLFFQVVMDKVLVHRGFSTLNVITVALSVVVIFEIVLSGLRTYIFSHSTSRIDVELGAKLFRHLLALPISYFENRRVGDTVARVRELDQIRNFLTGQALTSVLDLLFSFIFFAVMWYYSPKLTIVILLSLPCYIAWSIFISPILRRRLDEKFARNADNQSFLVESVSAIDTIKALAVTPQMTNIWDKQLASYVSADFRVTVLATIGQQGVQLIQKTVMIINLWLGAHLVISGDLSIGQLITFNMLSGQVIAPVVRLAQLWQDFQQVGISITRLGDVLNSPTENYQGKLSLPEIFGDIAFKHIRFRYKPDAPIILDDVNLSVKQGEVIGIVGRSGSGKSTLTKLLQRFYIPENGQVLIDGHDLALADPNWLRRQIGVVLQDNVLLNRSIRDNIALTDPSMSMERVIYAAKLAGAHDFISELREGYNTIVGELGAGLSGGQRQRIAIARALVNNPRILIFDEATSALDYESEHIIMQNMQKICHGRTVIIIAHRLSTVKNADRIIVMEKGHIVEQGKHNQLLENENGLYYYLNQLQSN
UniProt ID: Q04552
Variant: N -> D at position 24-24
Variant annotation: in 6B1-2 and 6B1-3
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04552
Variant: NS -> KC at position 155-156
Variant annotation: in 6B1-2 and 6B1-3
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04552
Variant: K -> R at position 243-243
Variant annotation: in 6B1-2
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04552
Variant: A -> S at position 285-285
Variant annotation: in 6B1-2
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04552
Variant: I -> V at position 293-293
Variant annotation: in 6B1-2
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04552
Variant: M -> V at position 458-458
Variant annotation: in 6B1-2
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04552
Variant: P -> E at position 475-475
Variant annotation: in 6B1-2
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04552
Variant: L -> I at position 495-495
Variant annotation: in 6B1-2
Protein function: Enables the insect to feed on furanocoumarin-producing plants and evolved as an adaptation for detoxification of xanthotoxin and other furanocoumarins.
Reference sequence:
MLYLLALVTVLAGLLHYYFTRTFNYWKKRNVAGPKPVPFFGNLKDSVLRRKPQVMVYKSIYDEFPNEKVVGIYRMTTPSVLLRDLDIIKHVLIKDFESFADRGVEFSLDGLGANIFHADGDRWRSLRNRFTPLFTSGKLKSMLPLMSQVGDRFINSIDEVSQTQPEQSIHNLVQKFTMTNIAACVFGLNLDEGMLKTLEDLDKHIFTVNYSAELDMMYPGILKKLNGSLFPKVVSKFFDNLTKNVLEMRKGTPSYQKDMIDLIQELREKKTLELSRKHENEDVKALELTDGVISAQMFIFYMAGYETSATTMTYLFYELAKNPDIQDKLIAEIDEVLSRHDGNITYECLSEMTYLSKVFDETLRKYPVADFTQRNAKTDYVFPGTDITIKKGQTIIVSTWGIQNDPKYYPNPEKFDPERFNPENVKDRHPCAYLPFSAGPRNCLGMRFAKWQSEVCIMKVLSKYRVEPSMKSSGPFKFDPMRLFALPKGGIYVNLVRR
UniProt ID: Q04609
Variant: A -> T at position 23-23
Variant annotation: in a colorectal cancer sample; somatic mutation
Protein function: Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.
Reference sequence:
MWNLLHETDSAVATARRPRWLCAGALVLAGGFFLLGFLFGWFIKSSNEATNITPKHNMKAFLDELKAENIKKFLYNFTQIPHLAGTEQNFQLAKQIQSQWKEFGLDSVELAHYDVLLSYPNKTHPNYISIINEDGNEIFNTSLFEPPPPGYENVSDIVPPFSAFSPQGMPEGDLVYVNYARTEDFFKLERDMKINCSGKIVIARYGKVFRGNKVKNAQLAGAKGVILYSDPADYFAPGVKSYPDGWNLPGGGVQRGNILNLNGAGDPLTPGYPANEYAYRRGIAEAVGLPSIPVHPIGYYDAQKLLEKMGGSAPPDSSWRGSLKVPYNVGPGFTGNFSTQKVKMHIHSTNEVTRIYNVIGTLRGAVEPDRYVILGGHRDSWVFGGIDPQSGAAVVHEIVRSFGTLKKEGWRPRRTILFASWDAEEFGLLGSTEWAEENSRLLQERGVAYINADSSIEGNYTLRVDCTPLMYSLVHNLTKELKSPDEGFEGKSLYESWTKKSPSPEFSGMPRISKLGSGNDFEVFFQRLGIASGRARYTKNWETNKFSGYPLYHSVYETYELVEKFYDPMFKYHLTVAQVRGGMVFELANSIVLPFDCRDYAVVLRKYADKIYSISMKHPQEMKTYSVSFDSLFSAVKNFTEIASKFSERLQDFDKSNPIVLRMMNDQLMFLERAFIDPLGLPDRPFYRHVIYAPSSHNKYAGESFPGIYDALFDIESKVDPSKAWGEVKRQIYVAAFTVQAAAETLSEVA
UniProt ID: Q04609
Variant: Y -> H at position 75-75
Variant annotation: in dbSNP:rs202676
Protein function: Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.
Reference sequence:
MWNLLHETDSAVATARRPRWLCAGALVLAGGFFLLGFLFGWFIKSSNEATNITPKHNMKAFLDELKAENIKKFLYNFTQIPHLAGTEQNFQLAKQIQSQWKEFGLDSVELAHYDVLLSYPNKTHPNYISIINEDGNEIFNTSLFEPPPPGYENVSDIVPPFSAFSPQGMPEGDLVYVNYARTEDFFKLERDMKINCSGKIVIARYGKVFRGNKVKNAQLAGAKGVILYSDPADYFAPGVKSYPDGWNLPGGGVQRGNILNLNGAGDPLTPGYPANEYAYRRGIAEAVGLPSIPVHPIGYYDAQKLLEKMGGSAPPDSSWRGSLKVPYNVGPGFTGNFSTQKVKMHIHSTNEVTRIYNVIGTLRGAVEPDRYVILGGHRDSWVFGGIDPQSGAAVVHEIVRSFGTLKKEGWRPRRTILFASWDAEEFGLLGSTEWAEENSRLLQERGVAYINADSSIEGNYTLRVDCTPLMYSLVHNLTKELKSPDEGFEGKSLYESWTKKSPSPEFSGMPRISKLGSGNDFEVFFQRLGIASGRARYTKNWETNKFSGYPLYHSVYETYELVEKFYDPMFKYHLTVAQVRGGMVFELANSIVLPFDCRDYAVVLRKYADKIYSISMKHPQEMKTYSVSFDSLFSAVKNFTEIASKFSERLQDFDKSNPIVLRMMNDQLMFLERAFIDPLGLPDRPFYRHVIYAPSSHNKYAGESFPGIYDALFDIESKVDPSKAWGEVKRQIYVAAFTVQAAAETLSEVA
UniProt ID: Q04609
Variant: H -> Y at position 475-475
Variant annotation: correlates with lower folate and higher homocysteine levels; dbSNP:rs61886492
Protein function: Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.
Reference sequence:
MWNLLHETDSAVATARRPRWLCAGALVLAGGFFLLGFLFGWFIKSSNEATNITPKHNMKAFLDELKAENIKKFLYNFTQIPHLAGTEQNFQLAKQIQSQWKEFGLDSVELAHYDVLLSYPNKTHPNYISIINEDGNEIFNTSLFEPPPPGYENVSDIVPPFSAFSPQGMPEGDLVYVNYARTEDFFKLERDMKINCSGKIVIARYGKVFRGNKVKNAQLAGAKGVILYSDPADYFAPGVKSYPDGWNLPGGGVQRGNILNLNGAGDPLTPGYPANEYAYRRGIAEAVGLPSIPVHPIGYYDAQKLLEKMGGSAPPDSSWRGSLKVPYNVGPGFTGNFSTQKVKMHIHSTNEVTRIYNVIGTLRGAVEPDRYVILGGHRDSWVFGGIDPQSGAAVVHEIVRSFGTLKKEGWRPRRTILFASWDAEEFGLLGSTEWAEENSRLLQERGVAYINADSSIEGNYTLRVDCTPLMYSLVHNLTKELKSPDEGFEGKSLYESWTKKSPSPEFSGMPRISKLGSGNDFEVFFQRLGIASGRARYTKNWETNKFSGYPLYHSVYETYELVEKFYDPMFKYHLTVAQVRGGMVFELANSIVLPFDCRDYAVVLRKYADKIYSISMKHPQEMKTYSVSFDSLFSAVKNFTEIASKFSERLQDFDKSNPIVLRMMNDQLMFLERAFIDPLGLPDRPFYRHVIYAPSSHNKYAGESFPGIYDALFDIESKVDPSKAWGEVKRQIYVAAFTVQAAAETLSEVA
UniProt ID: Q04609
Variant: V -> L at position 627-627
Variant annotation: in dbSNP:rs2988342
Protein function: Also exhibits a dipeptidyl-peptidase IV type activity. In vitro, cleaves Gly-Pro-AMC.
Reference sequence:
MWNLLHETDSAVATARRPRWLCAGALVLAGGFFLLGFLFGWFIKSSNEATNITPKHNMKAFLDELKAENIKKFLYNFTQIPHLAGTEQNFQLAKQIQSQWKEFGLDSVELAHYDVLLSYPNKTHPNYISIINEDGNEIFNTSLFEPPPPGYENVSDIVPPFSAFSPQGMPEGDLVYVNYARTEDFFKLERDMKINCSGKIVIARYGKVFRGNKVKNAQLAGAKGVILYSDPADYFAPGVKSYPDGWNLPGGGVQRGNILNLNGAGDPLTPGYPANEYAYRRGIAEAVGLPSIPVHPIGYYDAQKLLEKMGGSAPPDSSWRGSLKVPYNVGPGFTGNFSTQKVKMHIHSTNEVTRIYNVIGTLRGAVEPDRYVILGGHRDSWVFGGIDPQSGAAVVHEIVRSFGTLKKEGWRPRRTILFASWDAEEFGLLGSTEWAEENSRLLQERGVAYINADSSIEGNYTLRVDCTPLMYSLVHNLTKELKSPDEGFEGKSLYESWTKKSPSPEFSGMPRISKLGSGNDFEVFFQRLGIASGRARYTKNWETNKFSGYPLYHSVYETYELVEKFYDPMFKYHLTVAQVRGGMVFELANSIVLPFDCRDYAVVLRKYADKIYSISMKHPQEMKTYSVSFDSLFSAVKNFTEIASKFSERLQDFDKSNPIVLRMMNDQLMFLERAFIDPLGLPDRPFYRHVIYAPSSHNKYAGESFPGIYDALFDIESKVDPSKAWGEVKRQIYVAAFTVQAAAETLSEVA
UniProt ID: Q04637
Variant: P -> S at position 71-71
Variant annotation: in dbSNP:rs113810947
Protein function: Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. As a member of the eIF4F complex, required for endoplasmic reticulum stress-induced ATF4 mRNA translation .
Reference sequence:
MNKAPQSTGPPPAPSPGLPQPAFPPGQTAPVVFSTPQATQMNTPSQPRQHFYPSRAQPPSSAASRVQSAAPARPGPAAHVYPAGSQVMMIPSQISYPASQGAYYIPGQGRSTYVVPTQQYPVQPGAPGFYPGASPTEFGTYAGAYYPAQGVQQFPTGVAPTPVLMNQPPQIAPKRERKTIRIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAIIADRPGLPGPEHSPSESQPSSPSPTPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEESTPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHEPNGMVPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSEPEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEEEGEAGEAGEAESEKGGEELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPAVPEVENQPPAGSNPGPESEGSGVPPRPEEADETWDSKEDKIHNAENIQPGEQKYEYKSDQWKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGINCGPDFTPSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVLMTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRVRSILNKLTPQMFQQLMKQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFRKLLLNRCQKEFEKDKDDDEVFEKKQKEMDEAATAEERGRLKEELEEARDIARRRSLGNIKFIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFNQMEKIIKEKKTSSRIRFMLQDVLDLRGSNWVPRRGDQGPKTIDQIHKEAEMEEHREHIKVQQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPIDTSRLTKITKPGSIDSNNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRVVQRSSLSRERGEKAGDRGDRLERSERGGDRGDRLDRARTPATKRSFSKEVEERSRERPSQPEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMKEAVQCVQELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLYEILELAEDMEIDIPHVWLYLAELVTPILQEGGVPMGELFREITKPLRPLGKAASLLLEILGLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPSEELNRQLEKLLKEGSSNQRVFDWIEANLSEQQIVSNTLVRALMTAVCYSAIIFETPLRVDVAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAFYSWESSKDPAEQQGKGVALKSVTAFFKWLREAEEESDHN
UniProt ID: Q04637
Variant: T -> A at position 161-161
Variant annotation: in dbSNP:rs13319149
Protein function: Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. As a member of the eIF4F complex, required for endoplasmic reticulum stress-induced ATF4 mRNA translation .
Reference sequence:
MNKAPQSTGPPPAPSPGLPQPAFPPGQTAPVVFSTPQATQMNTPSQPRQHFYPSRAQPPSSAASRVQSAAPARPGPAAHVYPAGSQVMMIPSQISYPASQGAYYIPGQGRSTYVVPTQQYPVQPGAPGFYPGASPTEFGTYAGAYYPAQGVQQFPTGVAPTPVLMNQPPQIAPKRERKTIRIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAIIADRPGLPGPEHSPSESQPSSPSPTPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEESTPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHEPNGMVPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSEPEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEEEGEAGEAGEAESEKGGEELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPAVPEVENQPPAGSNPGPESEGSGVPPRPEEADETWDSKEDKIHNAENIQPGEQKYEYKSDQWKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGINCGPDFTPSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVLMTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRVRSILNKLTPQMFQQLMKQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFRKLLLNRCQKEFEKDKDDDEVFEKKQKEMDEAATAEERGRLKEELEEARDIARRRSLGNIKFIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFNQMEKIIKEKKTSSRIRFMLQDVLDLRGSNWVPRRGDQGPKTIDQIHKEAEMEEHREHIKVQQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPIDTSRLTKITKPGSIDSNNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRVVQRSSLSRERGEKAGDRGDRLERSERGGDRGDRLDRARTPATKRSFSKEVEERSRERPSQPEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMKEAVQCVQELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLYEILELAEDMEIDIPHVWLYLAELVTPILQEGGVPMGELFREITKPLRPLGKAASLLLEILGLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPSEELNRQLEKLLKEGSSNQRVFDWIEANLSEQQIVSNTLVRALMTAVCYSAIIFETPLRVDVAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAFYSWESSKDPAEQQGKGVALKSVTAFFKWLREAEEESDHN
UniProt ID: Q04637
Variant: R -> H at position 201-201
Variant annotation: found in a patient with Rett syndrome-like phenotype; uncertain significance; dbSNP:rs34838305
Protein function: Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. As a member of the eIF4F complex, required for endoplasmic reticulum stress-induced ATF4 mRNA translation .
Reference sequence:
MNKAPQSTGPPPAPSPGLPQPAFPPGQTAPVVFSTPQATQMNTPSQPRQHFYPSRAQPPSSAASRVQSAAPARPGPAAHVYPAGSQVMMIPSQISYPASQGAYYIPGQGRSTYVVPTQQYPVQPGAPGFYPGASPTEFGTYAGAYYPAQGVQQFPTGVAPTPVLMNQPPQIAPKRERKTIRIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAIIADRPGLPGPEHSPSESQPSSPSPTPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEESTPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHEPNGMVPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSEPEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEEEGEAGEAGEAESEKGGEELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPAVPEVENQPPAGSNPGPESEGSGVPPRPEEADETWDSKEDKIHNAENIQPGEQKYEYKSDQWKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGINCGPDFTPSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVLMTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRVRSILNKLTPQMFQQLMKQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFRKLLLNRCQKEFEKDKDDDEVFEKKQKEMDEAATAEERGRLKEELEEARDIARRRSLGNIKFIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFNQMEKIIKEKKTSSRIRFMLQDVLDLRGSNWVPRRGDQGPKTIDQIHKEAEMEEHREHIKVQQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPIDTSRLTKITKPGSIDSNNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRVVQRSSLSRERGEKAGDRGDRLERSERGGDRGDRLDRARTPATKRSFSKEVEERSRERPSQPEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMKEAVQCVQELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLYEILELAEDMEIDIPHVWLYLAELVTPILQEGGVPMGELFREITKPLRPLGKAASLLLEILGLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPSEELNRQLEKLLKEGSSNQRVFDWIEANLSEQQIVSNTLVRALMTAVCYSAIIFETPLRVDVAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAFYSWESSKDPAEQQGKGVALKSVTAFFKWLREAEEESDHN
UniProt ID: Q04637
Variant: Y -> C at position 311-311
Variant annotation: in dbSNP:rs16858632
Protein function: Component of the protein complex eIF4F, which is involved in the recognition of the mRNA cap, ATP-dependent unwinding of 5'-terminal secondary structure and recruitment of mRNA to the ribosome. As a member of the eIF4F complex, required for endoplasmic reticulum stress-induced ATF4 mRNA translation .
Reference sequence:
MNKAPQSTGPPPAPSPGLPQPAFPPGQTAPVVFSTPQATQMNTPSQPRQHFYPSRAQPPSSAASRVQSAAPARPGPAAHVYPAGSQVMMIPSQISYPASQGAYYIPGQGRSTYVVPTQQYPVQPGAPGFYPGASPTEFGTYAGAYYPAQGVQQFPTGVAPTPVLMNQPPQIAPKRERKTIRIRDPNQGGKDITEEIMSGARTASTPTPPQTGGGLEPQANGETPQVAVIVRPDDRSQGAIIADRPGLPGPEHSPSESQPSSPSPTPSPSPVLEPGSEPNLAVLSIPGDTMTTIQMSVEESTPISRETGEPYRLSPEPTPLAEPILEVEVTLSKPVPESEFSSSPLQAPTPLASHTVEIHEPNGMVPSEDLEPEVESSPELAPPPACPSESPVPIAPTAQPEELLNGAPSPPAVDLSPVSEPEEQAKEVTASMAPPTIPSATPATAPSATSPAQEEEMEEEEEEEEGEAGEAGEAESEKGGEELLPPESTPIPANLSQNLEAAAATQVAVSVPKRRRKIKELNKKEAVGDLLDAFKEANPAVPEVENQPPAGSNPGPESEGSGVPPRPEEADETWDSKEDKIHNAENIQPGEQKYEYKSDQWKPLNLEEKKRYDREFLLGFQFIFASMQKPEGLPHISDVVLDKANKTPLRPLDPTRLQGINCGPDFTPSFANLGRTTLSTRGPPRGGPGGELPRGPAGLGPRRSQQGPRKEPRKIIATVLMTEDIKLNKAEKAWKPSSKRTAADKDRGEEDADGSKTQDLFRRVRSILNKLTPQMFQQLMKQVTQLAIDTEERLKGVIDLIFEKAISEPNFSVAYANMCRCLMALKVPTTEKPTVTVNFRKLLLNRCQKEFEKDKDDDEVFEKKQKEMDEAATAEERGRLKEELEEARDIARRRSLGNIKFIGELFKLKMLTEAIMHDCVVKLLKNHDEESLECLCRLLTTIGKDLDFEKAKPRMDQYFNQMEKIIKEKKTSSRIRFMLQDVLDLRGSNWVPRRGDQGPKTIDQIHKEAEMEEHREHIKVQQLMAKGSDKRRGGPPGPPISRGLPLVDDGGWNTVPISKGSRPIDTSRLTKITKPGSIDSNNQLFAPGGRLSWGKGSSGGSGAKPSDAASEAARPATSTLNRFSALQQAVPTESTDNRRVVQRSSLSRERGEKAGDRGDRLERSERGGDRGDRLDRARTPATKRSFSKEVEERSRERPSQPEGLRKAASLTEDRDRGRDAVKREAALPPVSPLKAALSEEELEKKSKAIIEEYLHLNDMKEAVQCVQELASPSLLFIFVRHGVESTLERSAIAREHMGQLLHQLLCAGHLSTAQYYQGLYEILELAEDMEIDIPHVWLYLAELVTPILQEGGVPMGELFREITKPLRPLGKAASLLLEILGLLCKSMGPKKVGTLWREAGLSWKEFLPEGQDIGAFVAEQKVEYTLGEESEAPGQRALPSEELNRQLEKLLKEGSSNQRVFDWIEANLSEQQIVSNTLVRALMTAVCYSAIIFETPLRVDVAVLKARAKLLQKYLCDEQKELQALYALQALVVTLEQPPNLLRMFFDALYDEDVVKEDAFYSWESSKDPAEQQGKGVALKSVTAFFKWLREAEEESDHN