Variant position: 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 230 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TWRRLSLCWFAVCGFIHLVI EGWFVLY------------YEDLLG--------DQAFLSQL
Mouse AGRRLALCWFAVCTFIHLVI EGWFSLY------------NG
Rat TGRRLALCWFAVCTFIHLVI EGWFSFY------------HE
Slime mold --------WLLWSGLIHIIL EGSYGFFAHEVTKASTVSFTE
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
2 – 230 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase
66 – 86 Helical
61 – 204 EXPERA
68 – 68 W -> A. Reduces catalytic activity to less than 35% of wild-type.
75 – 75 I -> A. Reduces catalytic activity to less than 35% of wild-type.
76 – 76 H -> A. Reduces catalytic activity to less than 10% of wild-type.
80 – 80 E -> A. Reduces catalytic activity to less than 10% of wild-type.
Mutations in the gene encoding 3-beta-hydroxysteroid-delta(8),delta(7)-isomerase cause X-linked dominant Conradi-Hunermann syndrome.
Braverman N.; Lin P.; Moebius F.F.; Obie C.; Moser A.; Glossmann H.; Wilcox W.R.; Rimoin D.L.; Smith M.; Kratz L.; Kelley R.I.; Valle D.;
Nat. Genet. 22:291-294(1999)
Cited for: VARIANTS CDPX2 LYS-80 AND HIS-147;
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