Variant position: 268 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 494 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 LVAGQWRDMMDYMLQGVAQP SMEEGSGQLLEGHVHMAAVDL
Mouse LVAGQWKDMIDYMLQGVEKQ RDGKDEERLHEGHVHMSVVDL
Rat LVAGQWKDMIDYMLQGVEKQ RDARDPGQLHERHVHMSVVDL
Pig MVAGQWRDMLDYMLQEAGRQ RVEEGQGQLLEGHVHMSVVDL
Bovine MVAGQWRDMTDYMLQGVGRQ RVEEGPGQLLEGHVHMSVVDL
Cat MVAGQWRDMTDYMLQGMGKP KVEKGHGRLLEGHVHMSVVDL
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 – 494 Steroid 21-hydroxylase
268 – 268 S -> CMT. No loss of function.
281 – 281 V -> I. Normal KM but 50% reduced Vmax.
281 – 281 V -> T. Normal KM but 10% reduced Vmax.
Molecular characterization of the HLA-linked steroid 21-hydroxylase B gene from an individual with congenital adrenal hyperplasia.
Rodrigues N.R.; Dunham I.; Yu C.Y.; Carroll M.C.; Porter R.R.; Campbell R.D.;
EMBO J. 6:1653-1661(1987)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT AH3 THR-268; VARIANTS LEU-9 INS; ARG-102 AND SER-493; INVOLVEMENT IN AH3;
A mutation (Pro-30 to Leu) in CYP21 represents a potential nonclassic steroid 21-hydroxylase deficiency allele.
Tusie-Luna M.T.; Speiser P.W.; Dumic M.; New M.I.; White P.C.;
Mol. Endocrinol. 5:685-692(1991)
Cited for: VARIANT AH3 LEU-30; VARIANT THR-268;
Molecular analysis of Japanese patients with steroid 21-hydroxylase deficiency.
Asanuma A.; Ohura T.; Ogawa E.; Sato S.; Igarashi Y.; Matsubara Y.; Iinuma K.;
J. Hum. Genet. 44:312-317(1999)
Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; TRP-356 AND SER-493; VARIANT THR-268;
Characterization of single-nucleotide polymorphisms in coding regions of human genes.
Cargill M.; Altshuler D.; Ireland J.; Sklar P.; Ardlie K.; Patil N.; Shaw N.; Lane C.R.; Lim E.P.; Kalyanaraman N.; Nemesh J.; Ziaugra L.; Friedland L.; Rolfe A.; Warrington J.; Lipshutz R.; Daley G.Q.; Lander E.S.;
Nat. Genet. 22:231-238(1999)
Cited for: VARIANTS AH3 LEU-281 AND SER-453; VARIANTS THR-268 AND SER-493;
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.