Variant position: 356 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 YKDRARLPLLNATIAEVLRL RPVVPLALPHRTTRPSSISGY
Mouse YRNRMQLPLLMATIAEVLRL RPVVPLALPHRATRASSISGY
Rat YKNRMQLPLLMATIAEVLRL RPVVPMALPHRATKASSISGY
Pig YKDRARLPLLNATIAEVLRL RPVVPLALPHRATRPSSIFGY
Bovine YKDRARLPLLNATIAEVLRL RPVVPLALPHRTTRPSSIFGY
Cat LKDPSRLPLLTATIAEVLRL RPVVPLALPHRTTRHSSILGY
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
342 – 358 Steroid-binding
A cluster of missense mutations at Arg356 of human steroid 21-hydroxylase may impair redox partner interaction.
Lajic S.; Levo A.; Nikoshkov A.; Lundberg Y.; Partanen J.; Wedell A.;
Hum. Genet. 99:704-709(1997)
Cited for: VARIANTS AH3 PRO-356 AND GLN-356;
Identification of CYP21 mutations, one novel, by single strand conformational polymorphism (SSCP) analysis.
Witchel S.F.; Smith R.; Suda-Hartman M.;
Hum. Mutat. 13:172-172(1999)
Cited for: VARIANTS AH3 TYR-169; LEU-281 AND GLN-356;
Detection and assignment of CYP21 mutations using peptide mass signature genotyping.
Zeng X.; Witchel S.F.; Dobrowolski S.F.; Moulder P.V.; Jarvik J.W.; Telmer C.A.;
Mol. Genet. Metab. 82:38-47(2004)
Cited for: VARIANTS AH3 LEU-30; ASN-172; ASN-236; GLU-237; LYS-239; LEU-281; SER-291; GLN-356; TRP-356; TYR-365; SER-453; LEU-479 AND PRO-483; VARIANT ARG-102;
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.