WormBase Tree Display for Variation: WBVar00144742
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WBVar00144742 | Evidence | Paper_evidence | WBPaper00003757 | |||||
---|---|---|---|---|---|---|---|---|
Name | Public_name | e2322 | ||||||
Other_name | F26C11.2.1:c.361C>T | |||||||
CE01560:p.Leu121Phe | ||||||||
HGVSg | CHROMOSOME_II:g.9899354G>A | |||||||
Sequence_details | SMap | S_parent | Sequence | F26C11 | ||||
Flanking_sequences | cactatccagacgttttcatgcgggaagca | ttgcaatgagattagatttgctagaaagtc | ||||||
Mapping_target | F26C11 | |||||||
Type_of_mutation | Substitution | c | t | Paper_evidence | WBPaper00003757 | |||
SeqStatus | Sequenced | |||||||
Variation_type | Allele | |||||||
Origin | Species | Caenorhabditis elegans | ||||||
Strain | WBStrain00028639 | |||||||
Laboratory | CB | |||||||
Status | Live | |||||||
Affects | Gene | WBGene00006744 | ||||||
Transcript | F26C11.2.1 | VEP_consequence | missense_variant | |||||
VEP_impact | MODERATE | |||||||
SIFT | 0 | deleterious | ||||||
PolyPhen | 1 | probably_damaging | ||||||
HGVSc | F26C11.2.1:c.361C>T | |||||||
HGVSp | CE01560:p.Leu121Phe | |||||||
cDNA_position | 480 | |||||||
CDS_position | 361 | |||||||
Protein_position | 121 | |||||||
Exon_number | 4/8 | |||||||
Codon_change | Ctt/Ttt | |||||||
Amino_acid_change | L/F | |||||||
Interactor | WBInteraction000519068 | |||||||
WBInteraction000521982 | ||||||||
WBInteraction000556966 | ||||||||
Genetics | Interpolated_map_position | II | 1.77024 | |||||
Description | Phenotype | WBPhenotype:0002514 | Paper_evidence | WBPaper00001502 | ||||
WBPaper00001826 | ||||||||
Curator_confirmed | WBPerson48777 | |||||||
Remark | Table 2. All match full Unc-4 null movement phenotype | Paper_evidence | WBPaper00001826 | |||||
Curator_confirmed | WBPerson48777 | |||||||
Penetrance | High | Paper_evidence | WBPaper00001502 | |||||
Curator_confirmed | WBPerson48777 | |||||||
Recessive | Paper_evidence | WBPaper00001502 | ||||||
Curator_confirmed | WBPerson48777 | |||||||
Variation_effect | Null | Paper_evidence | WBPaper00001502 | |||||
Curator_confirmed | WBPerson48777 | |||||||
Temperature_sensitive | Heat_sensitive | Paper_evidence | WBPaper00001502 | |||||
Curator_confirmed | WBPerson48777 | |||||||
Reference | WBPaper00014181 | |||||||
WBPaper00001502 | ||||||||
WBPaper00001826 | ||||||||
Method | Substitution_allele |