WormBase Tree Display for Variation: WBVar00142820
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WBVar00142820 | Evidence | Paper_evidence | WBPaper00005054 | |||
---|---|---|---|---|---|---|
Name | Public_name | dh10 | ||||
Other_name | CE30451:p.Glu415Lys | |||||
T13C5.1a.1:c.1288G>A | ||||||
CE27206:p.Glu430Lys | ||||||
T13C5.1c.1:c.1180G>A | ||||||
T13C5.1b.1:c.1243G>A | ||||||
CE53632:p.Glu394Lys | ||||||
HGVSg | CHROMOSOME_X:g.6200074G>A | |||||
Sequence_details | SMap | S_parent | Sequence | T13C5 | ||
Flanking_sequences | cagacgccgtatgtgagagccactctttcg | aaatccaacgtttggctaatgttttgccat | ||||
Mapping_target | T13C5 | |||||
Type_of_mutation | Substitution | g | a | |||
SeqStatus | Sequenced | |||||
Variation_type | Allele | |||||
Origin | Species | Caenorhabditis elegans | ||||
Laboratory | AA | |||||
Status | Live | |||||
Affects | Gene | WBGene00000905 | ||||
Transcript | T13C5.1c.1 | VEP_consequence | missense_variant | |||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious | ||||
PolyPhen | 0.999 | probably_damaging | ||||
HGVSc | T13C5.1c.1:c.1180G>A | |||||
HGVSp | CE53632:p.Glu394Lys | |||||
cDNA_position | 1180 | |||||
CDS_position | 1180 | |||||
Protein_position | 394 | |||||
Exon_number | 7/10 | |||||
Codon_change | Gaa/Aaa | |||||
Amino_acid_change | E/K | |||||
T13C5.1b.1 (12) | ||||||
T13C5.1a.1 | VEP_consequence | missense_variant | ||||
VEP_impact | MODERATE | |||||
SIFT | 0 | deleterious | ||||
PolyPhen | 0.999 | probably_damaging | ||||
HGVSc | T13C5.1a.1:c.1288G>A | |||||
HGVSp | CE27206:p.Glu430Lys | |||||
cDNA_position | 1349 | |||||
CDS_position | 1288 | |||||
Protein_position | 430 | |||||
Exon_number | 10/13 | |||||
Codon_change | Gaa/Aaa | |||||
Amino_acid_change | E/K | |||||
Genetics | Interpolated_map_position | X | -3.45906 | |||
Reference | WBPaper00005054 | |||||
Method | Substitution_allele |