Variant position: 218 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:
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 VLAGMATDFGNMPEQKGVIR AE---------------HGPTCMVLHPLAGSPSKTK
Mouse VLAGMATHFGEMPEQSGVIR AE---------------HGPT
Rat VLAGMATHFGEMPEQSGVIR AE---------------HGPT
Pig VLAGMATDFGEMPEQKGVIR AE---------------HGPT
Bovine VLAGMATLYEEMPQQKGVIR AE---------------HGPT
Sheep VLAGTATLYEEMPQQKGVIR AE---------------HGPT
Horse VLAGMATQFEEMPEQKGVIR AE---------------HGPT
Chicken VLAGMSTTHGAMPEQQGFIR AE---------------NGPT
Xenopus laevis ILAGMSTRFGGMPEQKGFVR GE---------------NGPT
Zebrafish FLAGMSTQHPGMPEQKGFVR AE---------------NGPT
Drosophila QVVHACVSPNTYPKEITIHN EDVRINSLHDEETSWFNSRVK
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
64 – 285 Steroidogenic acute regulatory protein, mitochondrial
67 – 280 START
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;
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia.
Nakae J.; Tajima T.; Sugawara T.; Arakane F.; Hanaki K.; Hotsubo T.; Igarashi N.; Igarashi Y.; Ishii T.; Koda N.; Kondo T.; Kohno H.; Nakagawa Y.; Tachibana K.; Takeshima Y.; Tsubouchi K.; Strauss J.F. III; Fujieda K.;
Hum. Mol. Genet. 6:571-576(1997)
Cited for: VARIANTS AH1 VAL-218 AND THR-225;
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia.
Katsumata N.; Kawada Y.; Yamamoto Y.; Noda M.; Nimura A.; Horikawa R.; Tanaka T.;
J. Clin. Endocrinol. Metab. 84:3983-3987(1999)
Cited for: VARIANTS AH1 THR-217 AND VAL-218;
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.