Variant position: 203 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 DFVSVRCAKRRGSTCVLAGM ATDFGNMPEQKGVIRAE---------------HGPT
Mouse DFVSVRCTKRRGSTCVLAGM ATHFGEMPEQSGVIRAE----
Rat DFVSVRCTKRRGSTCVLAGM ATHFGEMPEQSGVIRAE----
Pig DFVSVRCTKRRGSVCVLAGM ATDFGEMPEQKGVIRAE----
Bovine DFVSVRCTKRRGSMCVLAGM ATLYEEMPQQKGVIRAE----
Sheep DFVSVRCTKRRGSMCVLAGT ATLYEEMPQQKGVIRAE----
Horse DFVSVRCAKRRGSTCVLAGM ATQFEEMPEQKGVIRAE----
Chicken DFVSVRCSRRRGSTCVLAGM STTHGAMPEQQGFIRAE----
Xenopus laevis DFVSVRCSKRRGSTCILAGM STRFGGMPEQKGFVRGE----
Zebrafish DFVNVRHAKRRGSTCFLAGM STQHPGMPEQKGFVRAE----
Drosophila WYFTLRKQNAQRARMQVVHA CVSPNTYPKEITIHNEDVRIN
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
195 – 195 Phosphoserine; by PKA
Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13.
Sugawara T.; Holt J.A.; Driscoll D.; Strauss J.F. III; Lin D.; Miller W.L.; Patterson D.; Clancy K.P.; Hart I.M.; Clark B.J.; Stocco D.M.;
Proc. Natl. Acad. Sci. U.S.A. 92:4778-4782(1995)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT ASP-203; FUNCTION; CATALYTIC ACTIVITY;
Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity.
Sugawara T.; Lin D.; Holt J.A.; Martin K.O.; Javitt N.B.; Miller W.L.; Strauss J.F. III;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT ASP-203;
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
Katsumata N.; Tanae A.; Shinagawa T.; Nagashima-Miyokawa A.; Shimizu M.; Yasunaga T.; Tanaka T.; Hibi I.;
Hum. Mutat. Suppl. 1:S304-S307(1998)
Cited for: VARIANT ASP-203;
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.