sujigwak/NVAR huggingface dataset:
UniProt ID: P50536
Variant: S -> N at position 265-265
Variant annotation: in strain: 859A
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: E -> K at position 310-310
Variant annotation: in strain: 820A
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: S -> G at position 325-325
Variant annotation: in strain: 639A
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: V -> G at position 352-352
Variant annotation: in strain: 5, 7, 399A, 591A, 799A, 852A, 859A, Amherst, Congo13, Congo194, Congo216 and Congo346
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: Y -> H at position 405-405
Variant annotation: in strain: 639A
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: R -> C at position 412-412
Variant annotation: in strain: 732A
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: P -> S at position 430-430
Variant annotation: in strain: 639A
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: L -> P at position 465-465
Variant annotation: in strain: 820A
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50536
Variant: L -> V at position 503-503
Variant annotation: in strain: Congo194
Protein function: The MSL proteins are essential for elevating transcription of the single X chromosome in the male (X chromosome dosage compensation). Mle, msl-1 and msl-3 are colocalized on the X chromosome. Each of the MSL proteins requires all the other MSLs for wild-type X-chromosome binding.
Reference sequence:
MTELRDETPLFHKGEIVLCYEPDKSKARVLYTSKVLNVFERRNEHGLRFYEYKIHFQGWRPSYDRCVRATVLLKDTEENRQLQRELAEAAKLQIRGDYSYKGTPDKPSAKKKRGGKAAHVEEPIVVPMDTGHLEAEHEMAPTPRAAGNRTRDNSGGKRKEKPPSGDGRLKGNRGRQTETFYNNAINDVSVYNHVPQEDRIMMRVSERLRELIEYDRNMIKVLGKQHALPARVPIVTIMENFVKQQAVELAISIKQDSSRARNTQSRNARMEREYDRVMSTVCMLKEVVDGLRIYFEFHVDDHLLYTEEKEYVHNYLTDDNMRNCSLILNKSYEYINPSGDTELIGLDGTPVVEGSGDTNGQIGVINIGGPEYEKQLQKCLLYIVTASGKNTAQAYERTSPYTAAYKLPVEMRGFLNETFKWRLLSAESPPEKSMVFGAPHLVRLMIKMPMFLNASPISNKKLEDLLPHLDAFINYLENHREWFDRENFVNSTALPQEDLQRELLDSLDGIAA
UniProt ID: P50539
Variant: E -> A at position 152-152
Variant annotation: in prostate cancer; dbSNP:rs137852603
Protein function: Transcriptional repressor. MXI1 binds with MAX to form a sequence-specific DNA-binding protein complex which recognizes the core sequence 5'-CAC[GA]TG-3'. MXI1 thus antagonizes MYC transcriptional activity by competing for MAX.
Reference sequence:
MERVKMINVQRLLEAAEFLERRERECEHGYASSFPSMPSPRLQHSKPPRRLSRAQKHSSGSSNTSTANRSTHNELEKNRRAHLRLCLERLKVLIPLGPDCTRHTTLGLLNKAKAHIKKLEEAERKSQHQLENLEREQRFLKWRLEQLQGPQEMERIRMDSIGSTISSDRSDSEREEIEVDVESTEFSHGEVDNISTTSISDIDDHSSLPSIGSDEGYSSASVKLSFTS
UniProt ID: P50591
Variant: V -> I at position 33-33
Variant annotation: in dbSNP:rs6763816
Protein function: Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG . Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis.
Reference sequence:
MAMMEVQGGPSLGQTCVLIVIFTVLLQSLCVAVTYVYFTNELKQMQDKYSKSGIACFLKEDDSYWDPNDEESMNSPCWQVKWQLRQLVRKMILRTSEETISTVQEKQQNISPLVRERGPQRVAAHITGTRGRSNTLSSPNSKNEKALGRKINSWESSRSGHSFLSNLHLRNGELVIHEKGFYYIYSQTYFRFQEEIKENTKNDKQMVQYIYKYTSYPDPILLMKSARNSCWSKDAEYGLYSIYQGGIFELKENDRIFVSVTNEHLIDMDHEASFFGAFLVG
UniProt ID: P50591
Variant: D -> E at position 47-47
Variant annotation: in dbSNP:rs16845759
Protein function: Cytokine that binds to TNFRSF10A/TRAILR1, TNFRSF10B/TRAILR2, TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and possibly also to TNFRSF11B/OPG . Induces apoptosis. Its activity may be modulated by binding to the decoy receptors TNFRSF10C/TRAILR3, TNFRSF10D/TRAILR4 and TNFRSF11B/OPG that cannot induce apoptosis.
Reference sequence:
MAMMEVQGGPSLGQTCVLIVIFTVLLQSLCVAVTYVYFTNELKQMQDKYSKSGIACFLKEDDSYWDPNDEESMNSPCWQVKWQLRQLVRKMILRTSEETISTVQEKQQNISPLVRERGPQRVAAHITGTRGRSNTLSSPNSKNEKALGRKINSWESSRSGHSFLSNLHLRNGELVIHEKGFYYIYSQTYFRFQEEIKENTKNDKQMVQYIYKYTSYPDPILLMKSARNSCWSKDAEYGLYSIYQGGIFELKENDRIFVSVTNEHLIDMDHEASFFGAFLVG
UniProt ID: P50616
Variant: K -> R at position 319-319
Variant annotation: in dbSNP:rs3316
Protein function: Anti-proliferative protein; the function is mediated by association with deadenylase subunits of the CCR4-NOT complex . Mediates CPEB3-accelerated mRNA deadenylation by binding to CPEB3 and recruiting CNOT7 which leads to target mRNA deadenylation and decay .
Reference sequence:
MQLEIQVALNFIISYLYNKLPRRRVNIFGEELERLLKKKYEGHWYPEKPYKGSGFRCIHIGEKVDPVIEQASKESGLDIDDVRGNLPQDLSVWIDPFEVSYQIGEKGPVKVLYVDDNNENGCELDKEIKNSFNPEAQVFMPISDPASSVSSSPSPPFGHSAAVSPTFMPRSTQPLTFTTATFAATKFGSTKMKNSGRSNKVARTSPINLGLNVNDLLKQKAISSSMHSLYGLGLGSQQQPQQQQQPAQPPPPPPPPQQQQQQKTSALSPNAKEFIFPNMQGQGSSTNGMFPGDSPLNLSPLQYSNAFDVFAAYGGLNEKSFVDGLNFSLNNMQYSNQQFQPVMAN
UniProt ID: P50635
Variant: E -> A at position 9-9
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: V -> P at position 30-30
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: V -> A at position 61-61
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: N -> K at position 224-224
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: L -> I at position 284-284
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: EE -> DT at position 314-315
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: KN -> QH at position 319-320
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: A -> E at position 347-347
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: M -> K at position 361-361
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: V -> I at position 472-472
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: K -> E at position 491-491
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50635
Variant: E -> Q at position 498-498
Variant annotation: in strain: Rockefeller
Protein function: Facilitates hematophagy by preventing ADP-dependent platelet aggregation in the host. May reduce probing time by facilitating the speed of locating blood.
Reference sequence:
MAGRPGYSEVIFLYVVSVAVIARATDNMPVNKDVSKLFPLTLIHINDLHARFEETNMKSNVCTQKDQCIAGIARVYQKIKDLLKEYESKNPIYLNAGDNFQGTLWYNLLRWNVTADFIKKLKPAAMTLGNHEFDHTPKGLAPYLAELNKEGIPTIVANLVMNNDPDLKSSKIPKSIKLTVGKRKIGIIGVLYDKTHEIAQTGKVTLSNAVEAVRREAAALKKDNIDIIVVLSHCSYEEDKKIAAEAGDDIDVIVGAHSHSFLYSPDSKQPHDPKDKVEGPYPTLVESKNKRKIPIVQAKSFGKYVGRLTLYFDEEGEVKNWEGYPVFIDHKVQQDPQILKDLVPWRAKVEAIGSTVVGETMIELDRDSCRDQECTLGVLYADGFADQYTNDTFRPFAIIQAGNFRNPIKVGKITNGDIIEAAPFGSTADLIRLKGADIWDVAEHSFALDDEGRTNCLQVSGLRIVIDISKPVRSRVKKIEVMDYTNPKSDKLKPLDKEAEYYIVVPSYLADGKDGFSAMKRATARRTGPLDSDVFKNYVEKIKKVDNLKLGRVIVCKGSKCT
UniProt ID: P50704
Variant: D -> Y at position 61-61
Variant annotation: in strain: C3H/HeJ
Protein function: Has broad-spectrum antimicrobial properties. Has antibacterial activity against the Gram-positive bacterium L.monocytogenes EGD and the Gram-negative bacteria E.coli ML-35p and avirulent S.typhimurium 7953, but not against the mouse-virulent S.typhimurium 14028S. Probably contributes to the antimicrobial barrier function of the small bowel mucosa.
Reference sequence:
MKTLILLSALVLLAFQVQADPIQNTDEETKTEEQPGEEDQAVSVSFGDPEGTSLQEESLRDLVCYCRARGCKGRERMNGTCRKGHLLYMLCCR
UniProt ID: P50704
Variant: L -> M at position 87-87
Variant annotation: in strain: C3H/HeJ
Protein function: Has broad-spectrum antimicrobial properties. Has antibacterial activity against the Gram-positive bacterium L.monocytogenes EGD and the Gram-negative bacteria E.coli ML-35p and avirulent S.typhimurium 7953, but not against the mouse-virulent S.typhimurium 14028S. Probably contributes to the antimicrobial barrier function of the small bowel mucosa.
Reference sequence:
MKTLILLSALVLLAFQVQADPIQNTDEETKTEEQPGEEDQAVSVSFGDPEGTSLQEESLRDLVCYCRARGCKGRERMNGTCRKGHLLYMLCCR
UniProt ID: P50704
Variant: M -> T at position 89-89
Variant annotation: in strain: C3H/HeJ
Protein function: Has broad-spectrum antimicrobial properties. Has antibacterial activity against the Gram-positive bacterium L.monocytogenes EGD and the Gram-negative bacteria E.coli ML-35p and avirulent S.typhimurium 7953, but not against the mouse-virulent S.typhimurium 14028S. Probably contributes to the antimicrobial barrier function of the small bowel mucosa.
Reference sequence:
MKTLILLSALVLLAFQVQADPIQNTDEETKTEEQPGEEDQAVSVSFGDPEGTSLQEESLRDLVCYCRARGCKGRERMNGTCRKGHLLYMLCCR
UniProt ID: P50747
Variant: E -> D at position 42-42
Variant annotation: in HLCS deficiency; benign; conserves enzymatic wild-type activity; dbSNP:rs61732504
Protein function: Biotin--protein ligase catalyzing the biotinylation of the 4 biotin-dependent carboxylases acetyl-CoA-carboxylase, pyruvate carboxylase, propionyl-CoA carboxylase, and methylcrotonyl-CoA carboxylase.
Reference sequence:
MEDRLHMDNGLVPQKIVSVHLQDSTLKEVKDQVSNKQAQILEPKPEPSLEIKPEQDGMEHVGRDDPKALGEEPKQRRGSASGSEPAGDSDRGGGPVEHYHLHLSSCHECLELENSTIESVKFASAENIPDLPYDYSSSLESVADETSPEREGRRVNLTGKAPNILLYVGSDSQEALGRFHEVRSVLADCVDIDSYILYHLLEDSALRDPWTDNCLLLVIATRESIPEDLYQKFMAYLSQGGKVLGLSSSFTFGGFQVTSKGALHKTVQNLVFSKADQSEVKLSVLSSGCRYQEGPVRLSPGRLQGHLENEDKDRMIVHVPFGTRGGEAVLCQVHLELPPSSNIVQTPEDFNLLKSSNFRRYEVLREILTTLGLSCDMKQVPALTPLYLLSAAEEIRDPLMQWLGKHVDSEGEIKSGQLSLRFVSSYVSEVEITPSCIPVVTNMEAFSSEHFNLEIYRQNLQTKQLGKVILFAEVTPTTMRLLDGLMFQTPQEMGLIVIAARQTEGKGRGGNVWLSPVGCALSTLLISIPLRSQLGQRIPFVQHLMSVAVVEAVRSIPEYQDINLRVKWPNDIYYSDLMKIGGVLVNSTLMGETFYILIGCGFNVTNSNPTICINDLITEYNKQHKAELKPLRADYLIARVVTVLEKLIKEFQDKGPNSVLPLYYRYWVHSGQQVHLGSAEGPKVSIVGLDDSGFLQVHQEGGEVVTVHPDGNSFDMLRNLILPKRR