sujigwak/NVAR huggingface dataset:
UniProt ID: P41930
Variant: A -> S at position 122-122
Variant annotation: in strain: Bb32, M1-2A, M2-8, MMR2-5, MMW1-15h2, MMW1-2h2 and Sgu52F
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41930
Variant: P -> S at position 157-157
Variant annotation: in strain: Ba194, Bb32, M1-2A, M2-8, M5-7A, M5-7B, M7-8D, MMR2-1, MMR2-3, MMR2-5, MMW1-12, MMW1-15h2, MMW1-2h2, ORM1-1, Sgu52E, Sgu52F, Y-9, YPS396, YPS400, YPS598, YPS600, YPS602, YPS604, YPS606, YPS608 and YPS610
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41930
Variant: Y -> H at position 164-164
Variant annotation: in strain: Bb32, M1-2A, M2-8, MMR2-5, MMW1-15h2, MMW1-2h2 and Sgu52F
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41930
Variant: A -> T at position 191-191
Variant annotation: in strain: ATCC 76625 / YPH499,MMW1-15, MMW1-2 and S288c / YPH1
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41930
Variant: G -> E at position 344-344
Variant annotation: in strain: Sgu52F
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41930
Variant: K -> R at position 345-345
Variant annotation: in strain: ATCC 76625 / YPH499, MMW1-15 and MMW1-2
Protein function: Involved in efflux of free sulfite. Mutations in the SSU1 gene cause sensitivity to sulfite.
Reference sequence:
MVANWVLALTRQFDPFMFMMVMGVGISSNILYSFPYPARWLRICSYIMFAIACLIFIAVQALQILHLIVYIKEKSFREYFNDFFRNMKHNLFWGTYPMGLVTIINFLGALSKANTTKSPTNARNLMIFVYVLWWYDLAVCLVIAWGISFLIWHDYYPLEGIGNYPSYNIKMASENMKSVLLLDIIPLVVVASSCGTFTMSEIFFHAFNRNIQLITLVICALTWLHAIIFVFILIAIYFWSLYINKIPPMTQVFTLFLLLGPMGQGSFGVLLLTDNIKKYAGKYYPTDNITREQEILTIAVPWCFKILGMVSAMALLAMGYFFTVISVVSILSYYNKKEIENETGKVKRVYTFHKGFWGMTFPMGTMSLGNEELYVQYNQYVPLYAFRVLGTIYGGVCVCWSILCLLCTLHEYSKKMLHAARKSSLFSESGTEKTTVSPYNSIESVEESNSALDFTRLA
UniProt ID: P41933
Variant: E -> D at position 47-47
Variant annotation: in strain: CB4857
Protein function: Required for the function of one pair of chemosensory neurons called AWA neurons that are involved in chemotaxis to volatile odorants. Acts in a pathway that specifies olfactory neuronal fate. Regulates the transcription of olfactory signaling molecules such as odr-10 that specify AWA neuron identity and function. Represses the expression in AWA neurons of factors such as str-2 which specify AWC neuron identity.
Reference sequence:
MIVPDTEGLLIYSYGLMYGSYCMACQMLIPHFQCIPGIFPNFRISTELIKTMTDKLEQPNNNVPQQPWGPFPPAFGGRPSGEQTDGNPGEFDNDAAHQQTAPFMTHFFPRIGLQFPDFTEYQRFNGFQRNAFFPNPFGSQFTGQAFAQSFPLHNSMTTMDGFNLTHAPHPFSTNTNSTKPKDIENTVQSTIKHSSENIQDKPPVLSVEYPVKYDSELKFDANVDFTAVPKQESSDDSTLKNLKKSDQQLQQPQQFTFPPPLLAEKSFEQPRMREDVLPFHPQFYPAPLDMGTNFKQEMRTPPIDGHIDYRKFDASGKRMEFQPPGALHDCQVCLSTHANGLHFGARTCAACAAFFRRTISDDKRYVCKRNQRCNNASRDGTGYRKICRSCRMKRCLEIGMLPENVQHKRNRRDSGSPPRKTPFDTFFNGFYPSFQPSGSAAQPITVSSSESPRHTTN
UniProt ID: P41933
Variant: S -> P at position 155-155
Variant annotation: in strain: CB4855
Protein function: Required for the function of one pair of chemosensory neurons called AWA neurons that are involved in chemotaxis to volatile odorants. Acts in a pathway that specifies olfactory neuronal fate. Regulates the transcription of olfactory signaling molecules such as odr-10 that specify AWA neuron identity and function. Represses the expression in AWA neurons of factors such as str-2 which specify AWC neuron identity.
Reference sequence:
MIVPDTEGLLIYSYGLMYGSYCMACQMLIPHFQCIPGIFPNFRISTELIKTMTDKLEQPNNNVPQQPWGPFPPAFGGRPSGEQTDGNPGEFDNDAAHQQTAPFMTHFFPRIGLQFPDFTEYQRFNGFQRNAFFPNPFGSQFTGQAFAQSFPLHNSMTTMDGFNLTHAPHPFSTNTNSTKPKDIENTVQSTIKHSSENIQDKPPVLSVEYPVKYDSELKFDANVDFTAVPKQESSDDSTLKNLKKSDQQLQQPQQFTFPPPLLAEKSFEQPRMREDVLPFHPQFYPAPLDMGTNFKQEMRTPPIDGHIDYRKFDASGKRMEFQPPGALHDCQVCLSTHANGLHFGARTCAACAAFFRRTISDDKRYVCKRNQRCNNASRDGTGYRKICRSCRMKRCLEIGMLPENVQHKRNRRDSGSPPRKTPFDTFFNGFYPSFQPSGSAAQPITVSSSESPRHTTN
UniProt ID: P41933
Variant: T -> P at position 165-165
Variant annotation: in strain: CB4855
Protein function: Required for the function of one pair of chemosensory neurons called AWA neurons that are involved in chemotaxis to volatile odorants. Acts in a pathway that specifies olfactory neuronal fate. Regulates the transcription of olfactory signaling molecules such as odr-10 that specify AWA neuron identity and function. Represses the expression in AWA neurons of factors such as str-2 which specify AWC neuron identity.
Reference sequence:
MIVPDTEGLLIYSYGLMYGSYCMACQMLIPHFQCIPGIFPNFRISTELIKTMTDKLEQPNNNVPQQPWGPFPPAFGGRPSGEQTDGNPGEFDNDAAHQQTAPFMTHFFPRIGLQFPDFTEYQRFNGFQRNAFFPNPFGSQFTGQAFAQSFPLHNSMTTMDGFNLTHAPHPFSTNTNSTKPKDIENTVQSTIKHSSENIQDKPPVLSVEYPVKYDSELKFDANVDFTAVPKQESSDDSTLKNLKKSDQQLQQPQQFTFPPPLLAEKSFEQPRMREDVLPFHPQFYPAPLDMGTNFKQEMRTPPIDGHIDYRKFDASGKRMEFQPPGALHDCQVCLSTHANGLHFGARTCAACAAFFRRTISDDKRYVCKRNQRCNNASRDGTGYRKICRSCRMKRCLEIGMLPENVQHKRNRRDSGSPPRKTPFDTFFNGFYPSFQPSGSAAQPITVSSSESPRHTTN
UniProt ID: P41970
Variant: P -> L at position 169-169
Variant annotation: in dbSNP:rs35332676
Protein function: May be a negative regulator of transcription, but can activate transcription when coexpressed with Ras, Src or Mos. Forms a ternary complex with the serum response factor and the ETS and SRF motifs of the Fos serum response element.
Reference sequence:
MESAITLWQFLLQLLLDQKHEHLICWTSNDGEFKLLKAEEVAKLWGLRKNKTNMNYDKLSRALRYYYDKNIIKKVIGQKFVYKFVSFPEILKMDPHAVEISRESLLLQDSDCKASPEGREAHKHGLAALRSTSRNEYIHSGLYSSFTINSLQNPPDAFKAIKTEKLEEPPEDSPPVEEVRTVIRFVTNKTDKHVTRPVVSLPSTSEAAAASAFLASSVSAKISSLMLPNAASISSASPFSSRSPSLSPNSPLPSEHRSLFLEAACHDSDSLEPLNLSSGSKTKSPSLPPKAKKPKGLEISAPPLVLSGTDIGSIALNSPALPSGSLTPAFFTAQTPNGLLLTPSPLLSSIHFWSSLSPVAPLSPARLQGPSTLFQFPTLLNGHMPVPIPSLDRAASPVLLSSNSQKS
UniProt ID: P41981
Variant: V -> I at position 7-7
Protein function: Destroys superoxide anion radicals which are normally produced within the cells and which are toxic to biological systems.
Reference sequence:
MNLIIGVAGRLLVGKNYCLNTQRLKHVLPDLPYDYGALEPILSAEIMQVHHGKHHAAYVNALNQAEEKVKEALAKGDTQAAVAGTKLMNFNTGGHINHTLFWEGLTAVKNSGEPNSELMTAIKKDFGSLETMIDKLNAKTIAIQGSGWGWLAYDKEMKRLQLACCPNQDLLEPTTGLIPLFCIDVWEHAYYLQYKNLRPDFVKAIWKIANWKIISDRYIKARG
UniProt ID: P42025
Variant: V -> A at position 93-93
Variant annotation: in dbSNP:rs11547231
Protein function: Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome.
Reference sequence:
MESYDIIANQPVVIDNGSGVIKAGFAGDQIPKYCFPNYVGRPKHMRVMAGALEGDLFIGPKAEEHRGLLTIRYPMEHGVVRDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEAPLNPSKNREKAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVDFHTSAEFEVVRTIKERACYLSINPQKDEALETEKVQYTLPDGSTLDVGPARFRAPELLFQPDLVGDESEGLHEVVAFAIHKSDMDLRRTLFANIVLSGGSTLFKGFGDRLLSEVKKLAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDGSRAIHRKTF
UniProt ID: P42025
Variant: A -> V at position 143-143
Variant annotation: in dbSNP:rs11692435
Protein function: Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome.
Reference sequence:
MESYDIIANQPVVIDNGSGVIKAGFAGDQIPKYCFPNYVGRPKHMRVMAGALEGDLFIGPKAEEHRGLLTIRYPMEHGVVRDWNDMERIWQYVYSKDQLQTFSEEHPVLLTEAPLNPSKNREKAAEVFFETFNVPALFISMQAVLSLYATGRTTGVVLDSGDGVTHAVPIYEGFAMPHSIMRVDIAGRDVSRYLRLLLRKEGVDFHTSAEFEVVRTIKERACYLSINPQKDEALETEKVQYTLPDGSTLDVGPARFRAPELLFQPDLVGDESEGLHEVVAFAIHKSDMDLRRTLFANIVLSGGSTLFKGFGDRLLSEVKKLAPKDIKIKISAPQERLYSTWIGGSILASLDTFKKMWVSKKEYEEDGSRAIHRKTF
UniProt ID: P42081
Variant: S -> N at position 170-170
Variant annotation: in dbSNP:rs9282642
Protein function: (Microbial infection) Acts as a receptor for adenovirus subgroup B.
Reference sequence:
MDPQCTMGLSNILFVMAFLLSGAAPLKIQAYFNETADLPCQFANSQNQSLSELVVFWQDQENLVLNEVYLGKEKFDSVHSKYMGRTSFDSDSWTLRLHNLQIKDKGLYQCIIHHKKPTGMIRIHQMNSELSVLANFSQPEIVPISNITENVYINLTCSSIHGYPEPKKMSVLLRTKNSTIEYDGVMQKSQDNVTELYDVSISLSVSFPDVTSNMTIFCILETDKTRLLSSPFSIELEDPQPPPDHIPWITAVLPTVIICVMVFCLILWKWKKKKRPRNSYKCGTNTMEREESEQTKKREKIHIPERSDEAQRVFKSSKTSSCDKSDTCF
UniProt ID: P42081
Variant: V -> I at position 185-185
Variant annotation: in dbSNP:rs2681417
Protein function: (Microbial infection) Acts as a receptor for adenovirus subgroup B.
Reference sequence:
MDPQCTMGLSNILFVMAFLLSGAAPLKIQAYFNETADLPCQFANSQNQSLSELVVFWQDQENLVLNEVYLGKEKFDSVHSKYMGRTSFDSDSWTLRLHNLQIKDKGLYQCIIHHKKPTGMIRIHQMNSELSVLANFSQPEIVPISNITENVYINLTCSSIHGYPEPKKMSVLLRTKNSTIEYDGVMQKSQDNVTELYDVSISLSVSFPDVTSNMTIFCILETDKTRLLSSPFSIELEDPQPPPDHIPWITAVLPTVIICVMVFCLILWKWKKKKRPRNSYKCGTNTMEREESEQTKKREKIHIPERSDEAQRVFKSSKTSSCDKSDTCF
UniProt ID: P42081
Variant: A -> T at position 310-310
Variant annotation: in dbSNP:rs1129055
Protein function: (Microbial infection) Acts as a receptor for adenovirus subgroup B.
Reference sequence:
MDPQCTMGLSNILFVMAFLLSGAAPLKIQAYFNETADLPCQFANSQNQSLSELVVFWQDQENLVLNEVYLGKEKFDSVHSKYMGRTSFDSDSWTLRLHNLQIKDKGLYQCIIHHKKPTGMIRIHQMNSELSVLANFSQPEIVPISNITENVYINLTCSSIHGYPEPKKMSVLLRTKNSTIEYDGVMQKSQDNVTELYDVSISLSVSFPDVTSNMTIFCILETDKTRLLSSPFSIELEDPQPPPDHIPWITAVLPTVIICVMVFCLILWKWKKKKRPRNSYKCGTNTMEREESEQTKKREKIHIPERSDEAQRVFKSSKTSSCDKSDTCF
UniProt ID: P42081
Variant: D -> N at position 323-323
Variant annotation: in dbSNP:rs9282648
Protein function: (Microbial infection) Acts as a receptor for adenovirus subgroup B.
Reference sequence:
MDPQCTMGLSNILFVMAFLLSGAAPLKIQAYFNETADLPCQFANSQNQSLSELVVFWQDQENLVLNEVYLGKEKFDSVHSKYMGRTSFDSDSWTLRLHNLQIKDKGLYQCIIHHKKPTGMIRIHQMNSELSVLANFSQPEIVPISNITENVYINLTCSSIHGYPEPKKMSVLLRTKNSTIEYDGVMQKSQDNVTELYDVSISLSVSFPDVTSNMTIFCILETDKTRLLSSPFSIELEDPQPPPDHIPWITAVLPTVIICVMVFCLILWKWKKKKRPRNSYKCGTNTMEREESEQTKKREKIHIPERSDEAQRVFKSSKTSSCDKSDTCF
UniProt ID: P42088
Variant: H -> S at position 143-143
Protein function: Binds preferentially to oligosaccharides bearing the sequence Man-alpha-1->2 Man-alpha-1->6 Man-alpha-1->6Man found in early steps of glycoprotein processing in the endoplasmic reticulum. It binds weakly to highly processed oligosaccharide structures.
Reference sequence:
ANSVCFTFTDFESGQQDLIFQGDASVGSNKALQLTKVDSKGNPQGGSVGRALYTAPIRLWQSSSLVASFETTFTFSISQGSSTPAAALTFFIASPDTKIPSGSGGRLLGLFGSSNNAGSDNGVVAVEFDTYPNTDIGDPNYRHIGIDVNSIRSKAASKWDWQNGKTATAHISYNSASKRLSVVSSYPNSSPVVVSFDVELNNVGPPDVRVGFSATTGQYTQTNNILAWSFRSSLMGYQAN
UniProt ID: P42088
Variant: K -> R at position 158-158
Protein function: Binds preferentially to oligosaccharides bearing the sequence Man-alpha-1->2 Man-alpha-1->6 Man-alpha-1->6Man found in early steps of glycoprotein processing in the endoplasmic reticulum. It binds weakly to highly processed oligosaccharide structures.
Reference sequence:
ANSVCFTFTDFESGQQDLIFQGDASVGSNKALQLTKVDSKGNPQGGSVGRALYTAPIRLWQSSSLVASFETTFTFSISQGSSTPAAALTFFIASPDTKIPSGSGGRLLGLFGSSNNAGSDNGVVAVEFDTYPNTDIGDPNYRHIGIDVNSIRSKAASKWDWQNGKTATAHISYNSASKRLSVVSSYPNSSPVVVSFDVELNNVGPPDVRVGFSATTGQYTQTNNILAWSFRSSLMGYQAN
UniProt ID: P42088
Variant: S -> R at position 177-177
Protein function: Binds preferentially to oligosaccharides bearing the sequence Man-alpha-1->2 Man-alpha-1->6 Man-alpha-1->6Man found in early steps of glycoprotein processing in the endoplasmic reticulum. It binds weakly to highly processed oligosaccharide structures.
Reference sequence:
ANSVCFTFTDFESGQQDLIFQGDASVGSNKALQLTKVDSKGNPQGGSVGRALYTAPIRLWQSSSLVASFETTFTFSISQGSSTPAAALTFFIASPDTKIPSGSGGRLLGLFGSSNNAGSDNGVVAVEFDTYPNTDIGDPNYRHIGIDVNSIRSKAASKWDWQNGKTATAHISYNSASKRLSVVSSYPNSSPVVVSFDVELNNVGPPDVRVGFSATTGQYTQTNNILAWSFRSSLMGYQAN
UniProt ID: P42088
Variant: P -> V at position 187-187
Protein function: Binds preferentially to oligosaccharides bearing the sequence Man-alpha-1->2 Man-alpha-1->6 Man-alpha-1->6Man found in early steps of glycoprotein processing in the endoplasmic reticulum. It binds weakly to highly processed oligosaccharide structures.
Reference sequence:
ANSVCFTFTDFESGQQDLIFQGDASVGSNKALQLTKVDSKGNPQGGSVGRALYTAPIRLWQSSSLVASFETTFTFSISQGSSTPAAALTFFIASPDTKIPSGSGGRLLGLFGSSNNAGSDNGVVAVEFDTYPNTDIGDPNYRHIGIDVNSIRSKAASKWDWQNGKTATAHISYNSASKRLSVVSSYPNSSPVVVSFDVELNNVGPPDVRVGFSATTGQYTQTNNILAWSFRSSLMGYQAN
UniProt ID: P42088
Variant: V -> A at position 203-203
Protein function: Binds preferentially to oligosaccharides bearing the sequence Man-alpha-1->2 Man-alpha-1->6 Man-alpha-1->6Man found in early steps of glycoprotein processing in the endoplasmic reticulum. It binds weakly to highly processed oligosaccharide structures.
Reference sequence:
ANSVCFTFTDFESGQQDLIFQGDASVGSNKALQLTKVDSKGNPQGGSVGRALYTAPIRLWQSSSLVASFETTFTFSISQGSSTPAAALTFFIASPDTKIPSGSGGRLLGLFGSSNNAGSDNGVVAVEFDTYPNTDIGDPNYRHIGIDVNSIRSKAASKWDWQNGKTATAHISYNSASKRLSVVSSYPNSSPVVVSFDVELNNVGPPDVRVGFSATTGQYTQTNNILAWSFRSSLMGYQAN
UniProt ID: P42127
Variant: V -> A at position 13-13
Variant annotation: in dbSNP:rs2296151
Protein function: Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes.
Reference sequence:
MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSKQIGRKAAEKKRSSKKEASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFRSACSCRVLSLNC
UniProt ID: P42127
Variant: Q -> P at position 61-61
Variant annotation: in dbSNP:rs1129414
Protein function: Involved in the regulation of melanogenesis. The binding of ASP to MC1R precludes alpha-MSH initiated signaling and thus blocks production of cAMP, leading to a down-regulation of eumelanogenesis (brown/black pigment) and thus increasing synthesis of pheomelanin (yellow/red pigment). In higher primates, agouti may affect the quality of hair pigmentation rather than its pattern of deposition. Could well play a role in neuroendocrine aspects of melanocortin action. May have some functional role in regulating the lipid metabolism with adipocytes.
Reference sequence:
MDVTRLLLATLLVFLCFFTANSHLPPEEKLRDDRSLRSNSSVNLLDVPSVSIVALNKKSKQIGRKAAEKKRSSKKEASMKKVVRPRTPLSAPCVATRNSCKPPAPACCDPCASCQCRFFRSACSCRVLSLNC
UniProt ID: P42156
Variant: V -> A at position 8-8
Protein function: Kappa-casein stabilizes micelle formation, preventing casein precipitation in milk.
Reference sequence:
MMKSFFLVVTILALTLPFLGAQEQNQEQPICCEKDETFFDDKIAKYIPIQYVLSRYPSYGLNYYQQRPVALINNQFLPYPYYAKPVAVRSPAQTLQWQVLPNTVPAKSCQDQPTTMARHPHPHLSFMAIPPKKDQDKTEIPTINTIASAEPTVHSTPTTEAIVNTVDNPEASSESIVSAPETNTAQVTSTEV
UniProt ID: P42166
Variant: L -> R at position 238-238
Variant annotation: in dbSNP:rs35998138
Protein function: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
Reference sequence:
MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEEGKKKEHKKVKSTRDIVPFSELGTTPSGGGFFQGISFPEISTRPPLGSTELQAAKKVHTSKGDLPREPLVATNLPGRGQLQKLASERNLFISCKSSHDRCLEKSSSSSSQPEHSAMLVSTAASPSLIKETTTGYYKDIVENICGREKSGIQPLCPERSHISDQSPLSSKRKALEESESSQLISPPLAQAIRDYVNSLLVQGGVGSLPGTSNSMPPLDVENIQKRIDQSKFQETEFLSPPRKVPRLSEKSVEERDSGSFVAFQNIPGSELMSSFAKTVVSHSLTTLGLEVAKQSQHDKIDASELSFPFHESILKVIEEEWQQVDRQLPSLACKYPVSSREATQILSVPKVDDEILGFISEATPLGGIQAASTESCNQQLDLALCRAYEAAASALQIATHTAFVAKAMQADISQAAQILSSDPSRTHQALGILSKTYDAASYICEAAFDEVKMAAHTMGNATVGRRYLWLKDCKINLASKNKLASTPFKGGTLFGGEVCKVIKKRGNKH
UniProt ID: P42166
Variant: S -> A at position 293-293
Variant annotation: in dbSNP:rs35645287
Protein function: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
Reference sequence:
MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEEGKKKEHKKVKSTRDIVPFSELGTTPSGGGFFQGISFPEISTRPPLGSTELQAAKKVHTSKGDLPREPLVATNLPGRGQLQKLASERNLFISCKSSHDRCLEKSSSSSSQPEHSAMLVSTAASPSLIKETTTGYYKDIVENICGREKSGIQPLCPERSHISDQSPLSSKRKALEESESSQLISPPLAQAIRDYVNSLLVQGGVGSLPGTSNSMPPLDVENIQKRIDQSKFQETEFLSPPRKVPRLSEKSVEERDSGSFVAFQNIPGSELMSSFAKTVVSHSLTTLGLEVAKQSQHDKIDASELSFPFHESILKVIEEEWQQVDRQLPSLACKYPVSSREATQILSVPKVDDEILGFISEATPLGGIQAASTESCNQQLDLALCRAYEAAASALQIATHTAFVAKAMQADISQAAQILSSDPSRTHQALGILSKTYDAASYICEAAFDEVKMAAHTMGNATVGRRYLWLKDCKINLASKNKLASTPFKGGTLFGGEVCKVIKKRGNKH
UniProt ID: P42166
Variant: T -> S at position 317-317
Variant annotation: in dbSNP:rs35969221
Protein function: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
Reference sequence:
MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEEGKKKEHKKVKSTRDIVPFSELGTTPSGGGFFQGISFPEISTRPPLGSTELQAAKKVHTSKGDLPREPLVATNLPGRGQLQKLASERNLFISCKSSHDRCLEKSSSSSSQPEHSAMLVSTAASPSLIKETTTGYYKDIVENICGREKSGIQPLCPERSHISDQSPLSSKRKALEESESSQLISPPLAQAIRDYVNSLLVQGGVGSLPGTSNSMPPLDVENIQKRIDQSKFQETEFLSPPRKVPRLSEKSVEERDSGSFVAFQNIPGSELMSSFAKTVVSHSLTTLGLEVAKQSQHDKIDASELSFPFHESILKVIEEEWQQVDRQLPSLACKYPVSSREATQILSVPKVDDEILGFISEATPLGGIQAASTESCNQQLDLALCRAYEAAASALQIATHTAFVAKAMQADISQAAQILSSDPSRTHQALGILSKTYDAASYICEAAFDEVKMAAHTMGNATVGRRYLWLKDCKINLASKNKLASTPFKGGTLFGGEVCKVIKKRGNKH
UniProt ID: P42166
Variant: K -> E at position 416-416
Variant annotation: in dbSNP:rs11838270
Protein function: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
Reference sequence:
MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEEGKKKEHKKVKSTRDIVPFSELGTTPSGGGFFQGISFPEISTRPPLGSTELQAAKKVHTSKGDLPREPLVATNLPGRGQLQKLASERNLFISCKSSHDRCLEKSSSSSSQPEHSAMLVSTAASPSLIKETTTGYYKDIVENICGREKSGIQPLCPERSHISDQSPLSSKRKALEESESSQLISPPLAQAIRDYVNSLLVQGGVGSLPGTSNSMPPLDVENIQKRIDQSKFQETEFLSPPRKVPRLSEKSVEERDSGSFVAFQNIPGSELMSSFAKTVVSHSLTTLGLEVAKQSQHDKIDASELSFPFHESILKVIEEEWQQVDRQLPSLACKYPVSSREATQILSVPKVDDEILGFISEATPLGGIQAASTESCNQQLDLALCRAYEAAASALQIATHTAFVAKAMQADISQAAQILSSDPSRTHQALGILSKTYDAASYICEAAFDEVKMAAHTMGNATVGRRYLWLKDCKINLASKNKLASTPFKGGTLFGGEVCKVIKKRGNKH
UniProt ID: P42166
Variant: K -> N at position 478-478
Variant annotation: in dbSNP:rs35761089
Protein function: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
Reference sequence:
MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEEGKKKEHKKVKSTRDIVPFSELGTTPSGGGFFQGISFPEISTRPPLGSTELQAAKKVHTSKGDLPREPLVATNLPGRGQLQKLASERNLFISCKSSHDRCLEKSSSSSSQPEHSAMLVSTAASPSLIKETTTGYYKDIVENICGREKSGIQPLCPERSHISDQSPLSSKRKALEESESSQLISPPLAQAIRDYVNSLLVQGGVGSLPGTSNSMPPLDVENIQKRIDQSKFQETEFLSPPRKVPRLSEKSVEERDSGSFVAFQNIPGSELMSSFAKTVVSHSLTTLGLEVAKQSQHDKIDASELSFPFHESILKVIEEEWQQVDRQLPSLACKYPVSSREATQILSVPKVDDEILGFISEATPLGGIQAASTESCNQQLDLALCRAYEAAASALQIATHTAFVAKAMQADISQAAQILSSDPSRTHQALGILSKTYDAASYICEAAFDEVKMAAHTMGNATVGRRYLWLKDCKINLASKNKLASTPFKGGTLFGGEVCKVIKKRGNKH
UniProt ID: P42166
Variant: Q -> E at position 599-599
Variant annotation: in dbSNP:rs17459334
Protein function: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
Reference sequence:
MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEEGKKKEHKKVKSTRDIVPFSELGTTPSGGGFFQGISFPEISTRPPLGSTELQAAKKVHTSKGDLPREPLVATNLPGRGQLQKLASERNLFISCKSSHDRCLEKSSSSSSQPEHSAMLVSTAASPSLIKETTTGYYKDIVENICGREKSGIQPLCPERSHISDQSPLSSKRKALEESESSQLISPPLAQAIRDYVNSLLVQGGVGSLPGTSNSMPPLDVENIQKRIDQSKFQETEFLSPPRKVPRLSEKSVEERDSGSFVAFQNIPGSELMSSFAKTVVSHSLTTLGLEVAKQSQHDKIDASELSFPFHESILKVIEEEWQQVDRQLPSLACKYPVSSREATQILSVPKVDDEILGFISEATPLGGIQAASTESCNQQLDLALCRAYEAAASALQIATHTAFVAKAMQADISQAAQILSSDPSRTHQALGILSKTYDAASYICEAAFDEVKMAAHTMGNATVGRRYLWLKDCKINLASKNKLASTPFKGGTLFGGEVCKVIKKRGNKH
UniProt ID: P42166
Variant: R -> C at position 690-690
Variant annotation: affects the interaction with LMNA; dbSNP:rs17028450
Protein function: TP and TP5 may play a role in T-cell development and function. TP5 is an immunomodulating pentapeptide.
Reference sequence:
MPEFLEDPSVLTKDKLKSELVANNVTLPAGEQRKDVYVQLYLQHLTARNRPPLPAGTNSKGPPDFSSDEEREPTPVLGSGAAAAGRSRAAVGRKATKKTDKPRQEDKDDLDVTELTNEDLLDQLVKYGVNPGPIVGTTRKLYEKKLLKLREQGTESRSSTPLPTISSSAENTRQNGSNDSDRYSDNEEGKKKEHKKVKSTRDIVPFSELGTTPSGGGFFQGISFPEISTRPPLGSTELQAAKKVHTSKGDLPREPLVATNLPGRGQLQKLASERNLFISCKSSHDRCLEKSSSSSSQPEHSAMLVSTAASPSLIKETTTGYYKDIVENICGREKSGIQPLCPERSHISDQSPLSSKRKALEESESSQLISPPLAQAIRDYVNSLLVQGGVGSLPGTSNSMPPLDVENIQKRIDQSKFQETEFLSPPRKVPRLSEKSVEERDSGSFVAFQNIPGSELMSSFAKTVVSHSLTTLGLEVAKQSQHDKIDASELSFPFHESILKVIEEEWQQVDRQLPSLACKYPVSSREATQILSVPKVDDEILGFISEATPLGGIQAASTESCNQQLDLALCRAYEAAASALQIATHTAFVAKAMQADISQAAQILSSDPSRTHQALGILSKTYDAASYICEAAFDEVKMAAHTMGNATVGRRYLWLKDCKINLASKNKLASTPFKGGTLFGGEVCKVIKKRGNKH
UniProt ID: P42212
Variant: F -> Y at position 100-100
Protein function: Energy-transfer acceptor. Its role is to transduce the blue chemiluminescence of the protein aequorin into green fluorescent light by energy transfer. Fluoresces in vivo upon receiving energy from the Ca(2+)-activated photoprotein aequorin.
Reference sequence:
MSKGEELFTGVVPILVELDGDVNGHKFSVSGEGEGDATYGKLTLKFICTTGKLPVPWPTLVTTFSYGVQCFSRYPDHMKQHDFFKSAMPEGYVQERTIFFKDDGNYKTRAEVKFEGDTLVNRIELKGIDFKEDGNILGHKLEYNYNSHNVYIMADKQKNGIKVNFKIRHNIEDGSVQLADHYQQNTPIGDGPVLLPDNHYLSTQSALSKDPNEKRDHMVLLEFVTAAGITHGMDELYK