Sequence information
Variant position: 169 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 285 The length of the canonical sequence.
Location on the sequence:
PNVKEIKVLQKIGKDTFITH
E LAAEAAGNLVGPRDFVSVRC
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 PNVKEIKV-----------LQKIGKD-----------TFITHE LAAEAAGNLVG---------------------------------PRDFVSVRC
Mouse PNVKEIKV-----------LQRIGKD-----------TVIT
Rat PNVKEIKV-----------LKKIGKD-----------TVIT
Pig PSVKKIKI-----------LQKIGKD-----------TVIT
Bovine PNVKEIKV-----------LQKIGKD-----------TVIT
Sheep PSVKEIKV-----------LQKIGKD-----------TIIT
Horse PNVKEIKV-----------LQKIGKD-----------TVIT
Chicken PSVKEVKI-----------LQRVGKD-----------TLIT
Xenopus laevis PNVKEVKI-----------LQKIGKD-----------TVIT
Zebrafish PNVKQVKI-----------LQKIGQE-----------TMIT
Drosophila PKVAAAASVGVGPPPNSPRLAAAGSTFGSGNSSGSGADQLA
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
Chain
64 – 285
Steroidogenic acute regulatory protein, mitochondrial
Domain
67 – 280
START
Beta strand
161 – 171
Literature citations
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.
Bose H.S.; Sugawara T.; Strauss J.F. III; Miller W.L.;
N. Engl. J. Med. 335:1870-1878(1996)
Cited for: VARIANTS AH1 GLY-169; LYS-169; LEU-182; VAL-218; ARG-272 DEL AND PRO-275; CHARACTERIZATION OF VARIANTS AH1 GLY-169; LYS-169; LEU-182; VAL-218; ARG-272 DEL AND PRO-275; CATALYTIC ACTIVITY;
Disclaimer:
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.