WormBase Tree Display for Variation: WBVar00142931
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WBVar00142931 | Evidence | Paper_evidence | WBPaper00005152 | ||||
---|---|---|---|---|---|---|---|
Name | Public_name | e44 | |||||
Other_name | F48E8.1b.1:c.652G>A | ||||||
CE54061:p.Ala215Thr | |||||||
CE29046:p.Ala218Thr | |||||||
F48E8.1a.1:c.685G>A | |||||||
CE01953:p.Ala229Thr | |||||||
F48E8.1c.1:c.643G>A | |||||||
HGVSg | CHROMOSOME_III:g.5477560G>A | ||||||
Sequence_details | SMap | S_parent | Sequence | F48E8 | |||
Flanking_sequences | ttttcactgaactccttattccagatgcca | ctttcacctgggcttccggtgacaatggaa | |||||
Mapping_target | F48E8 | ||||||
Type_of_mutation | Substitution | g | a | Paper_evidence | WBPaper00005152 | ||
SeqStatus | Sequenced | ||||||
Variation_type | Allele | ||||||
Origin (3) | |||||||
Affects | Gene | WBGene00003055 | |||||
Transcript | F48E8.1b.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | ||||||
SIFT | 0.1 | tolerated | |||||
PolyPhen | 0.998 | probably_damaging | |||||
HGVSc | F48E8.1b.1:c.652G>A | ||||||
HGVSp | CE29046:p.Ala218Thr | ||||||
cDNA_position | 697 | ||||||
CDS_position | 652 | ||||||
Protein_position | 218 | ||||||
Exon_number | 7/8 | ||||||
Codon_change | Gct/Act | ||||||
Amino_acid_change | A/T | ||||||
F48E8.1c.1 (12) | |||||||
F48E8.1a.1 (12) | |||||||
Genetics | Interpolated_map_position | III | -1.62688 | ||||
Reference | WBPaper00005152 | ||||||
Method | Substitution_allele |