Variant position: 102 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 VKKWADFAGRPEPLTYKLVS KNYPDLSLGDYSLLWKAHKKL
Mouse IQKWVDFAGRPHMLNGKM-- --DLDLSLGDYSLMWKAHKKL
Rat IQKWVDFAGRPQILDGKM-- --NFDLSMGDYSLTWKAHKKL
Pig VRKWVDFAGRPQIPSYKLAS QHCPDISLGDYSLFWKAHKKL
Bovine IRKWVDFAGRPQIPSYKLVS QRCQDISLGDYSLLWKAHKKL
Cat IRRWVDFAGRPQMPSYKLVS QHYQDLSLGDYSLLWKAHKKL
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
68 – 102 VVVLNSKRTIEEAMVKKWADFAGRPEPLTYKLVSK -> KLVSR. In isoform 2.
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;
R339H and P453S: CYP21 mutations associated with nonclassic steroid 21-hydroxylase deficiency that are not apparent gene conversions.
Helmberg A.; Tusie-Luna M.-T.; Tabarelli M.; Kofler R.; White P.C.;
Mol. Endocrinol. 6:1318-1322(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-9 INS; ARG-102 AND SER-493; VARIANTS AH3 HIS-339 AND SER-453;
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.