sujigwak/NVAR huggingface dataset:
UniProt ID: O00754
Variant: G -> R at position 891-891
Variant annotation: in MANSA; results in less than 20% of wild-type enzyme activity; dbSNP:rs864621988
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Reference sequence:
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
UniProt ID: O00754
Variant: L -> P at position 892-892
Variant annotation: in MANSA; results in less than 20% of wild-type enzyme activity; dbSNP:rs864621989
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Reference sequence:
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
UniProt ID: O00754
Variant: R -> C at position 916-916
Variant annotation: in MANSA; results in less than 20% of wild-type enzyme activity; dbSNP:rs864621990
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Reference sequence:
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
UniProt ID: O00754
Variant: R -> H at position 916-916
Variant annotation: in MANSA; results in less than 20% of wild-type enzyme activity; dbSNP:rs758765126
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Reference sequence:
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
UniProt ID: O00754
Variant: R -> P at position 950-950
Variant annotation: in MANSA; results in less than 20% of wild-type enzyme activity; dbSNP:rs139041112
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Reference sequence:
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
UniProt ID: O00754
Variant: L -> R at position 956-956
Variant annotation: in MANSA; results in less than 20% of wild-type enzyme activity; dbSNP:rs768233248
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Reference sequence:
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
UniProt ID: O00754
Variant: F -> S at position 1000-1000
Variant annotation: in MANSA; results in less than 20% of wild-type enzyme activity; dbSNP:rs864621991
Protein function: Necessary for the catabolism of N-linked carbohydrates released during glycoprotein turnover. Cleaves all known types of alpha-mannosidic linkages.
Reference sequence:
MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPHTHDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVRDLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQMGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVEDPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVHVLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVGLAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHFTFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAHPPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMNQQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQVVRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEPVAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRGRHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGPEMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQTPYQLDPANITLEPMEIRTFLASVQWKEVDG
UniProt ID: O00757
Variant: V -> L at position 86-86
Variant annotation: in dbSNP:rs573212
Protein function: Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate.
Reference sequence:
MTDRSPFETDMLTLTRYVMEKGRQAKGTGELTQLLNSMLTAIKAISSAVRKAGLAHLYGIAGSVNVTGDEVKKLDVLSNSLVINMVQSSYSTCVLVSEENKDAIITAKEKRGKYVVCFDPLDGSSNIDCLASIGTIFAIYRKTSEDEPSEKDALQCGRNIVAAGYALYGSATLVALSTGQGVDLFMLDPALGEFVLVEKDVKIKKKGKIYSLNEGYAKYFDAATTEYVQKKKFPEDGSAPYGARYVGSMVADVHRTLVYGGIFLYPANQKSPKGKLRLLYECNPVAYIIEQAGGLATTGTQPVLDVKPEAIHQRVPLILGSPEDVQEYLTCVQKNQAGS
UniProt ID: O00757
Variant: V -> M at position 115-115
Variant annotation: in CORLK; decreased activity; decreased sensitivity to allosteric inhibition by AMP; decreased thermal stability; dbSNP:rs1358711717
Protein function: Catalyzes the hydrolysis of fructose 1,6-bisphosphate to fructose 6-phosphate in the presence of divalent cations and probably participates in glycogen synthesis from carbohydrate precursors, such as lactate.
Reference sequence:
MTDRSPFETDMLTLTRYVMEKGRQAKGTGELTQLLNSMLTAIKAISSAVRKAGLAHLYGIAGSVNVTGDEVKKLDVLSNSLVINMVQSSYSTCVLVSEENKDAIITAKEKRGKYVVCFDPLDGSSNIDCLASIGTIFAIYRKTSEDEPSEKDALQCGRNIVAAGYALYGSATLVALSTGQGVDLFMLDPALGEFVLVEKDVKIKKKGKIYSLNEGYAKYFDAATTEYVQKKKFPEDGSAPYGARYVGSMVADVHRTLVYGGIFLYPANQKSPKGKLRLLYECNPVAYIIEQAGGLATTGTQPVLDVKPEAIHQRVPLILGSPEDVQEYLTCVQKNQAGS
UniProt ID: O00764
Variant: R -> Q at position 220-220
Variant annotation: in HMSN6C; decreased pyridoxal kinase activity; dbSNP:rs759333796
Protein function: Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively  (Probable). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions.
Reference sequence:
MEEECRVLSIQSHVIRGYVGNRAATFPLQVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL
UniProt ID: O00764
Variant: A -> T at position 228-228
Variant annotation: in HMSN6C; decreased pyridoxal kinase activity; decreased affinity for ATP; decreased affinity for pyridoxal 5'-phosphate; no effect on protein abundance; dbSNP:rs757480516
Protein function: Catalyzes the phosphorylation of the dietary vitamin B6 vitamers pyridoxal (PL), pyridoxine (PN) and pyridoxamine (PM) to form pyridoxal 5'-phosphate (PLP), pyridoxine 5'-phosphate (PNP) and pyridoxamine 5'-phosphate (PMP), respectively  (Probable). PLP is the active form of vitamin B6, and acts as a cofactor for over 140 different enzymatic reactions.
Reference sequence:
MEEECRVLSIQSHVIRGYVGNRAATFPLQVLGFEIDAVNSVQFSNHTGYAHWKGQVLNSDELQELYEGLRLNNMNKYDYVLTGYTRDKSFLAMVVDIVQELKQQNPRLVYVCDPVLGDKWDGEGSMYVPEDLLPVYKEKVVPLADIITPNQFEAELLSGRKIHSQEEALRVMDMLHSMGPDTVVITSSDLPSPQGSNYLIVLGSQRRRNPAGSVVMERIRMDIRKVDAVFVGTGDLFAAMLLAWTHKHPNNLKVACEKTVSTLHHVLQRTIQCAKAQAGEGVRPSPMQLELRMVQSKRDIEDPEIVVQATVL
UniProt ID: O02437
Variant: GG -> EE at position 7-8
Variant annotation: in strain: 417RIB/A1
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: I -> V at position 9-9
Variant annotation: in strain: 205RIB/A2, 208RIB/A2, 209RIB/A2, 211RIB/A2 and 240RIB/AST
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: N -> H at position 155-155
Variant annotation: in strain: 201RIB/A1
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: I -> V at position 163-163
Variant annotation: in strain: 200RIB/A1, 201RIB/A1, 203RIB/A1, 233RIB/A1, 238RIB/AST, 332RIB/A1, 358RIB/A1, 394RIB/A1, 417RIB/A1 and 441RIB/A1
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: A -> T at position 167-167
Variant annotation: in strain: 200RIB/A1, 201RIB/A1, 203RIB/A1, 233RIB/A1, 238RIB/AST, 332RIB/A1, 358RIB/A1, 394RIB/A1, 417RIB/A1 and 441RIB/A1
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: S -> N at position 198-198
Variant annotation: in strain: 200RIB/A1, 238RIB/AST, 358RIB/A1, 340RIB/A1, 394RIB/A1 and 441RIB/A1
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: T -> S at position 262-262
Variant annotation: in strain: 240RIB/Ast
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: D -> N at position 323-323
Variant annotation: in strain: 205RIB/A2
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: P -> S at position 451-451
Variant annotation: in strain: 200RIB/A1, 201RIB/A1, 203RIB/A1, 233RIB/A1, 332RIB/A1, 340RIB/A1, 358RIB/A1, 394RIB/A1, 441RIB/A1 and 417RIB/A1
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: G -> S at position 476-476
Variant annotation: in strain: 206RIB/AST
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O02437
Variant: I -> V at position 480-480
Variant annotation: in strain: 211RIB/A2
Protein function: Controls the pigmentation pattern of the adult cuticle and larval mouth parts.
Reference sequence:
MHAQDKGGILPALSLLLIAVAMVSPSQAAYKLQERYSWNQLDFAFPSARLKEQALASGDYIPTNALPVGVEHFGNRLFVTVPRWRDGIPATLTYINMDHSVTGSPELIPYPDWRANTAGDCANSITTAYRIKVDECGRLWVLDTGTVGIGNTTTNPCPYAINIFDLATDTRIRRYELPAADTNPNTFIANIAVDIGKSCDDAFAYFADELGYGLISYSWELNKSWRFSAHSYFFPDPLRGDFNVAGINFQWGEEGIFGMSLTPIRSDGYRTLYFSPLASHRQFAVSTRILRDETRTEDSYHDFVALDERGPNAHTTSRVMSDDGVELFNLIDQNAVGCWHSSMPYSPQSHGIVDRDDVGLVFPADIKIDENKNVWVLSDRMPVFLLSDLDYSDTNFRIYTAPLATLIENTVCDLRNNAYGPPNTVSIPKQAAPGHSAVGPPLYTTTNQYRPVLSQKPQTSWGPSLPSRNYLPALNGNPGIPGSRNNLNNLGAPGQVVSSVSVSTNTVGPSGIEVPKAYVFNQHNGLNYETSGPHLFPTLQPAPSQLGGGLKTYVNARQSGWWHHQQQG
UniProt ID: O04378
Variant: RHQRHKDQILL -> KASKTQRSNSSLTCLLLVIFGIVLMIVIIVLAV at position 245-255
Variant annotation: in strain: cv. RLD
Protein function: May function in the docking or fusion of transport vesicles with the prevacuolar membrane.
Reference sequence:
MSFQDLEAGRGRSLASSRNINGGGSRQDTTQDVASGIFQINTSVSTFHRLVNTLGTPKDTPELREKLHKTRLYIGQLVKDTSAKLKEASETDHQRGVNQKKKIVDAKLAKDFQAVLKEFQKAQRLAAERETVYAPLVHKPSLPSSYTSSEIDVNGDKHPEQRALLVESKRQELVLLDNEIAFNEAVIEEREQGIQEIQQQIGEVHEIFKDLAVLVHDQGNMIDDIGTHIDNSYAATAQGKSHLVRHQRHKDQILL
UniProt ID: O04515
Variant: K -> R at position 130-130
Variant annotation: in strain: cv. Sha
Protein function: Negative regulator of salt (NaCl) tolerance probably by enhancing abscisic acid (ABA) sensitivity.
Reference sequence:
MPNTSSSQSFTIFVDGWLIRHRYFVEQLMCASSLDETNRISLEEQQSLVAQFLSHCLQYYQEKFASVSLAGDNVFTFFCPPWFNSYAKLILWVGDFKPSLVFKLTEVSVADLTRHQKDRISSLKSETRRKEREVMRDFALVQQSVADPPVMLAARRVGAVGMVDGEETDLEEAMEVLKAGMAAAMNNADQLRCSTVGKVVEILTPPQAIKVLRTIGQLHLRLRDRDQERA
UniProt ID: O05391
Variant: S -> F at position 96-96
Variant annotation: in BofC1
Protein function: Inhibits the SpoIVB zymogen from undergoing autocatalytic activation by an unknown mechanism, and in this way plays a role in the sigma-K checkpoint of sporulation.
Reference sequence:
MKRFSTAYLLLGILCSAAVFLIGAPSRALGAEVEHYEPLQVHVQLEKVYLDGDVSIEHKHEKVFSMDDFWAAYAGWTLVEQKKGYVLFRKQMDDISPLSKVNGYIGVSDNGVISTFHGRPEPASEPIQSFFQIDLERLESHMQKNLLKGIPFRTKAEFEDVIEHMKTYSG
UniProt ID: O07678
Variant: S -> N at position 22-22
Variant annotation: in strain: NCTC 11638
Protein function: Methylates ribosomal protein L11.
Reference sequence:
MLKPMYYEFFFIFPKERELFESFLLDATHLALEESSLENLKAFDDKETIGFISQSNWHYFATHDPLKKDLKENLKEKPPHLKNFVILRSQKDLNNSLIPALEAFCLNLKQNLQSEFDFFYLSRNLASKDWLEAYKQAILPVQCTKFYIHPSWHQKPSHVVTNDCIMIDPALAFGSGHHESTSMCLELLSDIDLKRKNALDVGCGSGILSIALKKQGVSALVACDTDSLAVEETLKNFSLNQIPLLVQDKVIYGSTQKIEGRFDVIVANLVADVIKSLYSEFVRLCNHTLILSGILETHLNSVLQIYYNGFEVLEQRQRNEWVALKLLKKQPIN
UniProt ID: O07678
Variant: A -> T at position 27-27
Variant annotation: in strain: NCTC 11638
Protein function: Methylates ribosomal protein L11.
Reference sequence:
MLKPMYYEFFFIFPKERELFESFLLDATHLALEESSLENLKAFDDKETIGFISQSNWHYFATHDPLKKDLKENLKEKPPHLKNFVILRSQKDLNNSLIPALEAFCLNLKQNLQSEFDFFYLSRNLASKDWLEAYKQAILPVQCTKFYIHPSWHQKPSHVVTNDCIMIDPALAFGSGHHESTSMCLELLSDIDLKRKNALDVGCGSGILSIALKKQGVSALVACDTDSLAVEETLKNFSLNQIPLLVQDKVIYGSTQKIEGRFDVIVANLVADVIKSLYSEFVRLCNHTLILSGILETHLNSVLQIYYNGFEVLEQRQRNEWVALKLLKKQPIN