Variant position: 301 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 VHMAAVDLLIGGTETTANTL SWAVVFLLHHPEIQQRLQEEL
Mouse VHMSVVDLFIGGTETTATTL SWAVAFLLHHPEIQKRLQEEL
Rat VHMSVVDLFVGGTETTAATL SWAVAFLLHHPEIQKRLQEEL
Pig VHMSVVDLFIGGTETTANTL SWAVVYLLHHPEIQWRLQEEL
Bovine VHMSVVDLFIGGTETTASTL SWAVAFLLHHPEIQRRLQEEL
Cat VHMSVVDLFIGGTETTATTL SWAVAFLLHHPEIQQRLQEEL
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
281 – 281 V -> I. Normal KM but 50% reduced Vmax.
281 – 281 V -> T. Normal KM but 10% reduced Vmax.
278 – 309
CYP21 gene mutation analysis in 198 patients with 21-hydroxylase deficiency in The Netherlands: six novel mutations and a specific cluster of four mutations.
Stikkelbroeck N.M.; Hoefsloot L.H.; de Wijs I.J.; Otten B.J.; Hermus A.R.; Sistermans E.A.;
J. Clin. Endocrinol. Metab. 88:3852-3859(2003)
Cited for: VARIANTS AH3 ASN-172; LEU-281; ARG-291; TYR-301; PRO-341; TRP-356 AND GLN-483;
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.