Variant position: 347 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 508 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 KLYEEIDQNVGFSRTPTISD RNRLLLLEATIREVLRLRPVA
Rhesus macaque KLYEEIDQNVGFSRTPTISD RNRLLLLEATIREVLRIRPVA
Chimpanzee KLYEEIDQNVGFSRTPTISD RNRLLLLEATIREVLRLRPVA
Mouse KIQKEIDQYVGFSRTPSFND RTHLLMLEATIREVLRIRPVA
Rat KIQKEIDQYVGFSRTPTFND RSHLLMLEATIREVLRIRPVA
Pig KIQDAIDQNIGFNRAPSISD RNQLVLLEATIREVLRFRPVS
Bovine RIQDDIDQIIGFNRTPTISD RNRLVLLEATIREVLRIRPVA
Goat RIQDSIDQNIGFNRTPTISD RNCLVLLEATIREVLRIRPVA
Sheep RIQDSIDQNIGFNRTPTISD RNRLVLLEATIREVLRIRPVA
Cat KLQEEIDQNIGFSRTPTMSD RNQLILLEATIREVLRIRPVA
Horse KIQEEIDQNVGFSRTPTLSD RNRLLLLEATIREVLRIRPVA
Chicken KIQEEMDQKIGLARHPHLSD RPLLPYLEATISEGLRIRPVS
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
1 – 508 Steroid 17-alpha-hydroxylase/17,20 lyase
344 – 348
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Van Den Akker E.L.T.; Koper J.W.; Boehmer A.L.M.; Themmen A.P.N.; Verhoef-Post M.; Timmerman M.A.; Otten B.J.; Drop S.L.S.; De Jong F.H.;
J. Clin. Endocrinol. Metab. 87:5714-5721(2002)
Cited for: VARIANTS AH5 VAL-114; VAL-116; CYS-347 AND HIS-347;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.