Variant position: 121 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 SKNYPDLSLGDYSLLWKAHK KLTRSALLLGIRDSMEPVVEQ
Mouse ---DLDLSLGDYSLMWKAHK KLSRSALMLGMRDSMEPLIEQ
Rat ---NFDLSMGDYSLTWKAHK KLSRSALVLGMRDSMEPLVEQ
Pig SQHCPDISLGDYSLFWKAHK KLTRSALLLGVRSSMEPRVEQ
Bovine SQRCQDISLGDYSLLWKAHK KLTRSALLLGTRSSMEPWVDQ
Cat SQHYQDLSLGDYSLLWKAHK KLTRSALLLGIRNSMEPLVEQ
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.
Functional and structural consequences of a novel point mutation in the CYP21A2 gene causing congenital adrenal hyperplasia: potential relevance of helix C for P450 oxidoreductase-21-hydroxylase interaction.
Riepe F.G.; Hiort O.; Grotzinger J.; Sippell W.G.; Krone N.; Holterhus P.M.;
J. Clin. Endocrinol. Metab. 93:2891-2895(2008)
Cited for: VARIANTS AH3 GLN-121 AND SER-453; CHARACTERIZATION OF VARIANT AH3 GLN-121;
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.