Variant position: 282 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 QGVAQPSMEEGSGQLLEGHV HMAAVDLLIGGTETTANTLSW
Mouse QGVEKQRDGKDEERLHEGHV HMSVVDLFIGGTETTATTLSW
Rat QGVEKQRDARDPGQLHERHV HMSVVDLFVGGTETTAATLSW
Pig QEAGRQRVEEGQGQLLEGHV HMSVVDLFIGGTETTANTLSW
Bovine QGVGRQRVEEGPGQLLEGHV HMSVVDLFIGGTETTASTLSW
Cat QGMGKPKVEKGHGRLLEGHV HMSVVDLFIGGTETTATTLSW
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.
278 – 309
p.H282N and p.Y191H: 2 novel CYP21A2 mutations in Italian congenital adrenal hyperplasia patients.
Concolino P.; Mello E.; Patrosso M.C.; Penco S.; Zuppi C.; Capoluongo E.;
Cited for: VARIANTS AH3 HIS-191 AND ASN-282; CHARACTERIZATION OF VARIANTS AH3 HIS-191 AND ASN-282; FUNCTION; CATALYTIC ACTIVITY; BIOPHYSICOCHEMICAL PROPERTIES;
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.