Sequence information
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:
WADFAGRPEPLTYKLVSKNY
P DLSLGDYSLLWKAHKKLTRS
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 WADFAGRPEPLTYKLVSKNYP DLSLGDYSLLWKAHKKLTRS
Mouse WVDFAGRPHMLNGKMDL---- DLSLGDYSLMWKAHKKLSRS
Rat WVDFAGRPQILDGKMNF---- DLSMGDYSLTWKAHKKLSRS
Pig WVDFAGRPQIPSYKLASQHCP DISLGDYSLFWKAHKKLTRS
Bovine WVDFAGRPQIPSYKLVSQRCQ DISLGDYSLLWKAHKKLTRS
Cat WVDFAGRPQMPSYKLVSQHYQ DLSLGDYSLLWKAHKKLTRS
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.
Literature citations
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;
Disclaimer:
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.