WormBase Tree Display for Variation: WBVar00143305
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WBVar00143305 | Evidence | Paper_evidence | WBPaper00004275 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e568 | |||||
Other_name | CE29050:p.Arg799Ter | ||||||
JC8.10a.1:c.2377C>T | |||||||
JC8.10b.1:c.2395C>T | |||||||
CE28239:p.Arg793Ter | |||||||
HGVSg | CHROMOSOME_IV:g.13263980G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | JC8 | |||
Flanking_sequences | gaaaagtgtcgtgcacccgcatggactgat | gaattctttggaaagatcagagaaagaagg | |||||
Mapping_target | JC8 | ||||||
Type_of_mutation | Substitution | c | t | ||||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin (3) | |||||||
Affects | Gene | WBGene00006763 | |||||
Transcript | JC8.10b.1 | VEP_consequence | stop_gained | ||||
VEP_impact | HIGH | ||||||
HGVSc | JC8.10b.1:c.2395C>T | ||||||
HGVSp | CE29050:p.Arg799Ter | ||||||
cDNA_position | 2400 | ||||||
CDS_position | 2395 | ||||||
Protein_position | 799 | ||||||
Exon_number | 9/12 | ||||||
Codon_change | Cga/Tga | ||||||
Amino_acid_change | R/* | ||||||
JC8.10a.1 | VEP_consequence | stop_gained | |||||
VEP_impact | HIGH | ||||||
HGVSc | JC8.10a.1:c.2377C>T | ||||||
HGVSp | CE28239:p.Arg793Ter | ||||||
cDNA_position | 2380 | ||||||
CDS_position | 2377 | ||||||
Protein_position | 793 | ||||||
Exon_number | 8/11 | ||||||
Codon_change | Cga/Tga | ||||||
Amino_acid_change | R/* | ||||||
Genetics | Interpolated_map_position | IV | 8.5113 | ||||
Description | Phenotype | WBPhenotype:0000017 | Paper_evidence | WBPaper00004275 | |||
Curator_confirmed | WBPerson712 | ||||||
Remark | Moderate allele. unc-26 mutants are resistant to inhibitors of acetylcholinesterase, indicative of a decrease in acetylcholine release. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000210 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Moderate allele. unc-26 mutants have reduced numbers of enteric muscle contractions, indicative of GABAergic function. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000229 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Moderate allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals are small. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000455 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Moderate allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; animals move backwards with a jerky motion. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000565 | Paper_evidence | WBPaper00004275 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Moderate allele. unc-26 mutants resemble mutants lacking the biosynthetic enzyme for acetylcholine encoded by the cha-1 gene; frequently coil. | Paper_evidence | WBPaper00004275 | ||||
Curator_confirmed | WBPerson712 | ||||||
WBPhenotype:0000643 | Paper_evidence | WBPaper00001303 | |||||
Curator_confirmed | WBPerson712 | ||||||
Remark | Animals exhibited limited movement in the first two larval stages but it progressively improved with age. | Paper_evidence | WBPaper00001303 | ||||
Curator_confirmed | WBPerson712 | ||||||
Reference | WBPaper00004275 | ||||||
WBPaper00013791 | |||||||
WBPaper00001303 | |||||||
Method | Substitution_allele |