Variant position: 283 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 GVAQPSMEEGSGQLLEGHVH MAAVDLLIGGTETTANTLSWA
Mouse GVEKQRDGKDEERLHEGHVH MSVVDLFIGGTETTATTLSWA
Rat GVEKQRDARDPGQLHERHVH MSVVDLFVGGTETTAATLSWA
Pig EAGRQRVEEGQGQLLEGHVH MSVVDLFIGGTETTANTLSWA
Bovine GVGRQRVEEGPGQLLEGHVH MSVVDLFIGGTETTASTLSWA
Cat GMGKPKVEKGHGRLLEGHVH MSVVDLFIGGTETTATTLSWA
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
Non-classical 21-hydroxylase deficiency in children: association of adrenocorticotropic hormone-stimulated 17-hydroxyprogesterone with the risk of compound heterozygosity with severe mutations.
Ezquieta B.; Cueva E.; Varela J.; Oliver A.; Fernandez J.; Jariego C.;
Acta Paediatr. 91:892-898(2002)
Cited for: VARIANTS AH3 LEU-30; ASN-172; LEU-281; LEU-283; TRP-356 AND SER-453;
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.