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UniProtKB/Swiss-Prot P49675: Variant p.Ala218Val

Steroidogenic acute regulatory protein, mitochondrial
Gene: STAR
Variant information

Variant position:  218
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Alanine (A) to Valine (V) at position 218 (A218V, p.Ala218Val).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In AH1; partial loss of activity.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   VLAGMATDFGNMPEQKGVIR  A EHGPTCMVLHPLAGSPSKTK
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                         VLAGMATDFGNMPEQKGVIRAE---------------HGPTCMVLHPLAGSPSKTK

Mouse                         VLAGMATHFGEMPEQSGVIRAE---------------HGPT

Rat                           VLAGMATHFGEMPEQSGVIRAE---------------HGPT

Pig                           VLAGMATDFGEMPEQKGVIRAE---------------HGPT

Bovine                        VLAGMATLYEEMPQQKGVIRAE---------------HGPT

Sheep                         VLAGTATLYEEMPQQKGVIRAE---------------HGPT

Horse                         VLAGMATQFEEMPEQKGVIRAE---------------HGPT

Chicken                       VLAGMSTTHGAMPEQQGFIRAE---------------NGPT

Xenopus laevis                ILAGMSTRFGGMPEQKGFVRGE---------------NGPT

Zebrafish                     FLAGMSTQHPGMPEQKGFVRAE---------------NGPT

Drosophila                    QVVHACVSPNTYPKEITIHNEDVRINSLHDEETSWFNSRVK

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.

TypePositionsDescription
Chain 64 – 285 Steroidogenic acute regulatory protein, mitochondrial
Domain 67 – 280 START


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;

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;

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.