sujigwak/NVAR huggingface dataset:
UniProt ID: Q16EI9
Variant: G -> A at position 358-358
Variant annotation: in allele E
Protein function: Odorant receptor that specifically recognizes the human odorant sulcatone (6-methylhept-5-en-2-onesul), a volatile odorant emitted at uniquely high levels in humans, thereby playing a key role in mosquito's preference in biting human compared to other animals.
Reference sequence:
MTQSLEFDQTFGFIAKVLQMIGYPSCLAPYPTTFASRLKSSAGFVVCFLMLTYCVFGQIINIGLLMMGHRQTDQVVEEVAIQVSSTGFCIIGLAKMYSLSYNRAILSWLIADFRVKWNAGELTDKDRSIRDGTLRPTVAITTVAALGNIIMVSAFNFQPVVEMIYGRVVTGEWVKLFPYVIWFPFNSTHGAIYYLVYLFEVYSGVIVAVGNVGFNCIFCLLTSHLSMQLKLLCSWIEDMVEVEDEKGVQSKKKLYRIVRYHQDLIRGRNALQSMFSTTLFLNFSASSVLMCMQLYLITTAGITLMVKFTLFMLCILMEIFILCYYGEEILANSSSIAAGAFNSNWYQSKVSQQNPRFGKNLIPIIQQGQRPMVLTAWKFWPITIRTFSAILQTSWSYFTLLKTVMH
UniProt ID: Q16EI9
Variant: QGQR -> RAQT at position 367-370
Variant annotation: in allele G
Protein function: Odorant receptor that specifically recognizes the human odorant sulcatone (6-methylhept-5-en-2-onesul), a volatile odorant emitted at uniquely high levels in humans, thereby playing a key role in mosquito's preference in biting human compared to other animals.
Reference sequence:
MTQSLEFDQTFGFIAKVLQMIGYPSCLAPYPTTFASRLKSSAGFVVCFLMLTYCVFGQIINIGLLMMGHRQTDQVVEEVAIQVSSTGFCIIGLAKMYSLSYNRAILSWLIADFRVKWNAGELTDKDRSIRDGTLRPTVAITTVAALGNIIMVSAFNFQPVVEMIYGRVVTGEWVKLFPYVIWFPFNSTHGAIYYLVYLFEVYSGVIVAVGNVGFNCIFCLLTSHLSMQLKLLCSWIEDMVEVEDEKGVQSKKKLYRIVRYHQDLIRGRNALQSMFSTTLFLNFSASSVLMCMQLYLITTAGITLMVKFTLFMLCILMEIFILCYYGEEILANSSSIAAGAFNSNWYQSKVSQQNPRFGKNLIPIIQQGQRPMVLTAWKFWPITIRTFSAILQTSWSYFTLLKTVMH
UniProt ID: Q16EI9
Variant: K -> R at position 402-402
Variant annotation: in allele C, allele D, allele E, allele F and allele G
Protein function: Odorant receptor that specifically recognizes the human odorant sulcatone (6-methylhept-5-en-2-onesul), a volatile odorant emitted at uniquely high levels in humans, thereby playing a key role in mosquito's preference in biting human compared to other animals.
Reference sequence:
MTQSLEFDQTFGFIAKVLQMIGYPSCLAPYPTTFASRLKSSAGFVVCFLMLTYCVFGQIINIGLLMMGHRQTDQVVEEVAIQVSSTGFCIIGLAKMYSLSYNRAILSWLIADFRVKWNAGELTDKDRSIRDGTLRPTVAITTVAALGNIIMVSAFNFQPVVEMIYGRVVTGEWVKLFPYVIWFPFNSTHGAIYYLVYLFEVYSGVIVAVGNVGFNCIFCLLTSHLSMQLKLLCSWIEDMVEVEDEKGVQSKKKLYRIVRYHQDLIRGRNALQSMFSTTLFLNFSASSVLMCMQLYLITTAGITLMVKFTLFMLCILMEIFILCYYGEEILANSSSIAAGAFNSNWYQSKVSQQNPRFGKNLIPIIQQGQRPMVLTAWKFWPITIRTFSAILQTSWSYFTLLKTVMH
UniProt ID: Q16EI9
Variant: H -> R at position 406-406
Variant annotation: in allele C and allele G
Protein function: Odorant receptor that specifically recognizes the human odorant sulcatone (6-methylhept-5-en-2-onesul), a volatile odorant emitted at uniquely high levels in humans, thereby playing a key role in mosquito's preference in biting human compared to other animals.
Reference sequence:
MTQSLEFDQTFGFIAKVLQMIGYPSCLAPYPTTFASRLKSSAGFVVCFLMLTYCVFGQIINIGLLMMGHRQTDQVVEEVAIQVSSTGFCIIGLAKMYSLSYNRAILSWLIADFRVKWNAGELTDKDRSIRDGTLRPTVAITTVAALGNIIMVSAFNFQPVVEMIYGRVVTGEWVKLFPYVIWFPFNSTHGAIYYLVYLFEVYSGVIVAVGNVGFNCIFCLLTSHLSMQLKLLCSWIEDMVEVEDEKGVQSKKKLYRIVRYHQDLIRGRNALQSMFSTTLFLNFSASSVLMCMQLYLITTAGITLMVKFTLFMLCILMEIFILCYYGEEILANSSSIAAGAFNSNWYQSKVSQQNPRFGKNLIPIIQQGQRPMVLTAWKFWPITIRTFSAILQTSWSYFTLLKTVMH
UniProt ID: Q17060
Variant: T -> A at position 251-251
Protein function: Secreted RNA-binding protein required to concentrate, stabilize and enhance environmental RNA bioavailability in the honeybee royal jelly . Acts as a RNA-aggregating protein: binds 18 nucleotides and longer single- and double-stranded RNA (ssRNA and dsRNA, respectively) in a non-specific manner . RNA-binding drives super-order assembly of oligomers into extracellular ribonucleoprotein granules that concentrate, protect and enhance RNA uptake granules, facilitating RNA transfer among bees .
Reference sequence:
MTKWLLLVVCLGIACQDVTSAAVNHQRKSANNLAHSMKVIYEWKHIDFDFGSDERRDAAIKSGEFDHTKNYPFDVDRWRDKTFVTIERNNGVPSSLNVVTNKKGKGGPLLRPYPDWSFAKYEDCSGIVSAFKIAVDKFDRLWVLDSGLVNNNQPMCSPKLLTFDLKTSKLVKQVEIPHNIAVNATTGMGELVSLAVQAIDRTNTMVYIADEKGEGLIMYQNSDDSFHRLTSNTFDYDPRYTKLTVAGESFTVKNGIYGIALSPVTNNLYYSPLLSHGLYYVDTEQFSNPQYEENNVQYEGSQDILNTQSFGKVVSKNGVLFLGLVGNSGIACVNEHQVLQRESFDVVAQNEETLQMIVSMKIMENLPQSGRINDPEGNEYMLALSNRMQKIINNDFNFNDVNFRILGANVDDLMRNTRCGRYHNQNAGNQNADNQNADNQNANNQNADNQNANKQNGNRQNDNRQNDNKQNGNRQNDNKQNGNRQNDNKQNGNRQNGNKQNDNKQNGNRQNDNKRNGNRQNDNQNNQNDNNRNDNQVHHSSKLH
UniProt ID: Q17060
Variant: Y -> C at position 257-257
Protein function: Secreted RNA-binding protein required to concentrate, stabilize and enhance environmental RNA bioavailability in the honeybee royal jelly . Acts as a RNA-aggregating protein: binds 18 nucleotides and longer single- and double-stranded RNA (ssRNA and dsRNA, respectively) in a non-specific manner . RNA-binding drives super-order assembly of oligomers into extracellular ribonucleoprotein granules that concentrate, protect and enhance RNA uptake granules, facilitating RNA transfer among bees .
Reference sequence:
MTKWLLLVVCLGIACQDVTSAAVNHQRKSANNLAHSMKVIYEWKHIDFDFGSDERRDAAIKSGEFDHTKNYPFDVDRWRDKTFVTIERNNGVPSSLNVVTNKKGKGGPLLRPYPDWSFAKYEDCSGIVSAFKIAVDKFDRLWVLDSGLVNNNQPMCSPKLLTFDLKTSKLVKQVEIPHNIAVNATTGMGELVSLAVQAIDRTNTMVYIADEKGEGLIMYQNSDDSFHRLTSNTFDYDPRYTKLTVAGESFTVKNGIYGIALSPVTNNLYYSPLLSHGLYYVDTEQFSNPQYEENNVQYEGSQDILNTQSFGKVVSKNGVLFLGLVGNSGIACVNEHQVLQRESFDVVAQNEETLQMIVSMKIMENLPQSGRINDPEGNEYMLALSNRMQKIINNDFNFNDVNFRILGANVDDLMRNTRCGRYHNQNAGNQNADNQNADNQNANNQNADNQNANKQNGNRQNDNRQNDNKQNGNRQNDNKQNGNRQNDNKQNGNRQNGNKQNDNKQNGNRQNDNKRNGNRQNDNQNNQNDNNRNDNQVHHSSKLH
UniProt ID: Q17060
Variant: L -> S at position 274-274
Protein function: Secreted RNA-binding protein required to concentrate, stabilize and enhance environmental RNA bioavailability in the honeybee royal jelly . Acts as a RNA-aggregating protein: binds 18 nucleotides and longer single- and double-stranded RNA (ssRNA and dsRNA, respectively) in a non-specific manner . RNA-binding drives super-order assembly of oligomers into extracellular ribonucleoprotein granules that concentrate, protect and enhance RNA uptake granules, facilitating RNA transfer among bees .
Reference sequence:
MTKWLLLVVCLGIACQDVTSAAVNHQRKSANNLAHSMKVIYEWKHIDFDFGSDERRDAAIKSGEFDHTKNYPFDVDRWRDKTFVTIERNNGVPSSLNVVTNKKGKGGPLLRPYPDWSFAKYEDCSGIVSAFKIAVDKFDRLWVLDSGLVNNNQPMCSPKLLTFDLKTSKLVKQVEIPHNIAVNATTGMGELVSLAVQAIDRTNTMVYIADEKGEGLIMYQNSDDSFHRLTSNTFDYDPRYTKLTVAGESFTVKNGIYGIALSPVTNNLYYSPLLSHGLYYVDTEQFSNPQYEENNVQYEGSQDILNTQSFGKVVSKNGVLFLGLVGNSGIACVNEHQVLQRESFDVVAQNEETLQMIVSMKIMENLPQSGRINDPEGNEYMLALSNRMQKIINNDFNFNDVNFRILGANVDDLMRNTRCGRYHNQNAGNQNADNQNADNQNANNQNADNQNANKQNGNRQNDNRQNDNKQNGNRQNDNKQNGNRQNDNKQNGNRQNGNKQNDNKQNGNRQNDNKRNGNRQNDNQNNQNDNNRNDNQVHHSSKLH
UniProt ID: Q17060
Variant: S -> R at position 287-287
Protein function: Secreted RNA-binding protein required to concentrate, stabilize and enhance environmental RNA bioavailability in the honeybee royal jelly . Acts as a RNA-aggregating protein: binds 18 nucleotides and longer single- and double-stranded RNA (ssRNA and dsRNA, respectively) in a non-specific manner . RNA-binding drives super-order assembly of oligomers into extracellular ribonucleoprotein granules that concentrate, protect and enhance RNA uptake granules, facilitating RNA transfer among bees .
Reference sequence:
MTKWLLLVVCLGIACQDVTSAAVNHQRKSANNLAHSMKVIYEWKHIDFDFGSDERRDAAIKSGEFDHTKNYPFDVDRWRDKTFVTIERNNGVPSSLNVVTNKKGKGGPLLRPYPDWSFAKYEDCSGIVSAFKIAVDKFDRLWVLDSGLVNNNQPMCSPKLLTFDLKTSKLVKQVEIPHNIAVNATTGMGELVSLAVQAIDRTNTMVYIADEKGEGLIMYQNSDDSFHRLTSNTFDYDPRYTKLTVAGESFTVKNGIYGIALSPVTNNLYYSPLLSHGLYYVDTEQFSNPQYEENNVQYEGSQDILNTQSFGKVVSKNGVLFLGLVGNSGIACVNEHQVLQRESFDVVAQNEETLQMIVSMKIMENLPQSGRINDPEGNEYMLALSNRMQKIINNDFNFNDVNFRILGANVDDLMRNTRCGRYHNQNAGNQNADNQNADNQNANNQNADNQNANKQNGNRQNDNRQNDNKQNGNRQNDNKQNGNRQNDNKQNGNRQNGNKQNDNKQNGNRQNDNKRNGNRQNDNQNNQNDNNRNDNQVHHSSKLH
UniProt ID: Q17060
Variant: R -> K at position 371-371
Protein function: Secreted RNA-binding protein required to concentrate, stabilize and enhance environmental RNA bioavailability in the honeybee royal jelly . Acts as a RNA-aggregating protein: binds 18 nucleotides and longer single- and double-stranded RNA (ssRNA and dsRNA, respectively) in a non-specific manner . RNA-binding drives super-order assembly of oligomers into extracellular ribonucleoprotein granules that concentrate, protect and enhance RNA uptake granules, facilitating RNA transfer among bees .
Reference sequence:
MTKWLLLVVCLGIACQDVTSAAVNHQRKSANNLAHSMKVIYEWKHIDFDFGSDERRDAAIKSGEFDHTKNYPFDVDRWRDKTFVTIERNNGVPSSLNVVTNKKGKGGPLLRPYPDWSFAKYEDCSGIVSAFKIAVDKFDRLWVLDSGLVNNNQPMCSPKLLTFDLKTSKLVKQVEIPHNIAVNATTGMGELVSLAVQAIDRTNTMVYIADEKGEGLIMYQNSDDSFHRLTSNTFDYDPRYTKLTVAGESFTVKNGIYGIALSPVTNNLYYSPLLSHGLYYVDTEQFSNPQYEENNVQYEGSQDILNTQSFGKVVSKNGVLFLGLVGNSGIACVNEHQVLQRESFDVVAQNEETLQMIVSMKIMENLPQSGRINDPEGNEYMLALSNRMQKIINNDFNFNDVNFRILGANVDDLMRNTRCGRYHNQNAGNQNADNQNADNQNANNQNADNQNANKQNGNRQNDNRQNDNKQNGNRQNDNKQNGNRQNDNKQNGNRQNGNKQNDNKQNGNRQNDNKRNGNRQNDNQNNQNDNNRNDNQVHHSSKLH
UniProt ID: Q17093
Variant: H -> Q at position 67-67
Protein function: Metamorphosin A may be part of an internal signaling system involved in control of metamorphosis.
Reference sequence:
KRQQPGLWGRSADPQQAGLWGKRQQPGLWGRSADPQQAGLWGKRQNPGLWGRSADPQQAGLWGKRQHPGLWGRSADPQQAGLWGRSAGSGKRQERIGIWGRSAEPPQYKELEDLKQKSAIPKAKPQ
UniProt ID: Q18PE1
Variant: E -> K at position 3-3
Variant annotation: in CMS10; results in a significant reduction of AChR clusters; dbSNP:rs763233743
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: P -> T at position 31-31
Variant annotation: in CMS10; results in a significant reduction of AChR clusters
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: A -> V at position 33-33
Variant annotation: in CMS10; results in reduced stimulation of MUSK autophosphorylation
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: S -> L at position 45-45
Variant annotation: does not affect AChR clusters number or complexity; dbSNP:rs62272670
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: T -> M at position 77-77
Variant annotation: in CMS10; results in a decrease of branched, c-shaped and perforated AChR clusters; dbSNP:rs940346413
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: A -> V at position 99-99
Variant annotation: in dbSNP:rs138010842
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: G -> C at position 109-109
Variant annotation: in CMS10; results in a significant reduction of AChR clusters
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: V -> M at position 116-116
Variant annotation: in CMS10; dbSNP:rs1429428597
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: H -> Q at position 132-132
Variant annotation: in CMS10; dbSNP:rs779798129
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: V -> L at position 139-139
Variant annotation: in CMS10; results in a significant reduction of AChR clusters; dbSNP:rs571769859
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: P -> L at position 146-146
Variant annotation: in CMS10; dbSNP:rs770987150
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: L -> R at position 157-157
Variant annotation: in CMS10
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: R -> Q at position 158-158
Variant annotation: in CMS10; results in a significant reduction of AChR clusters; dbSNP:rs754633490
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: G -> R at position 161-161
Variant annotation: in CMS10; results in a significant reduction of AChR clusters; dbSNP:rs758131044
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: G -> R at position 166-166
Variant annotation: in CMS10; results in a significant reduction of AChR clusters; dbSNP:rs781227659
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP
UniProt ID: Q18PE1
Variant: G -> D at position 171-171
Variant annotation: in CMS10; results in a significant reduction of AChR clusters; dbSNP:rs1286619522
Protein function: Probable muscle-intrinsic activator of MUSK that plays an essential role in neuromuscular synaptogenesis. Acts in aneural activation of MUSK and subsequent acetylcholine receptor (AchR) clustering in myotubes. Induces autophosphorylation of MUSK.
Reference sequence:
MTEAALVEGQVKLRDGKKWKSRWLVLRKPSPVADCLLMLVYKDKSERIKGLRERSSLTLEDICGLEPGLPYEGLVHTLAIVCLSQAIMLGFDSHEAMCAWDARIRYALGEVHRFHVTVAPGTKLESGPATLHLCNDVLVLARDIPPAVTGQWKLSDLRRYGAVPSGFIFEGGTRCGYWAGVFFLSSAEGEQISFLFDCIVRGISPTKGPFGLRPVLPDPSPPGPSTVEERVAQEALETLQLEKRLSLLSHAGRPGSGGDDRSLSSSSSEASHLDVSASSRLTAWPEQSSSSASTSQEGPRPAAAQAAGEAMVGASRPPPKPLRPRQLQEVGRQSSSDSGIATGSHSSYSSSLSSYAGSSLDVWRATDELGSLLSLPAAGAPEPSLCTCLPGTVEYQVPTSLRAHYDTPRSLCLAPRDHSPPSQGSPGNSAARDSGGQTSAGCPSGWLGTRRRGLVMEAPQGSEATLPGPAPGEPWEAGGPHAGPPPAFFSACPVCGGLKVNPPP