Variant position: 105 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 WADFAGRPEPLTYKLVSKNY PDLSLGDYSLLWKAHKKLTRS
Mouse WVDFAGRPHMLNGKM----D LDLSLGDYSLMWKAHKKLSRS
Rat WVDFAGRPQILDGKM----N FDLSMGDYSLTWKAHKKLSRS
Pig WVDFAGRPQIPSYKLASQHC PDISLGDYSLFWKAHKKLTRS
Bovine WVDFAGRPQIPSYKLVSQRC QDISLGDYSLLWKAHKKLTRS
Cat WVDFAGRPQMPSYKLVSQHY QDLSLGDYSLLWKAHKKLTRS
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
Steroid 21-hydroxylase deficiency: three additional mutated alleles and establishment of phenotype-genotype relationships of common mutations.
Wedell A.; Ritzen E.M.; Haglund-Stengler B.; Luthman H.;
Proc. Natl. Acad. Sci. U.S.A. 89:7232-7236(1992)
Cited for: VARIANTS AH3 LEU-105; SER-291 AND SER-453;
Synergistic effect of partially inactivating mutations in steroid 21-hydroxylase deficiency.
Nikoshkov A.; Lajic S.; Holst M.; Wedell A.; Luthman H.;
J. Clin. Endocrinol. Metab. 82:194-199(1997)
Cited for: VARIANTS AH3 LEU-105 AND SER-453;
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