Variant position: 169 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 RMRAQPGTPVAIEEEFSLLT CSIICYLTFGDKIKDDNLMPA
Mouse RMRAQAGTPVAIHKEFSFLT CSIISCLTFGDK--DSTLVQT
Rat RMRAQAGASVAIHKEFSLLT CSIISCLTFGDK-QDSTLLNA
Pig RMRAQAGTPVTIQKEFSVLT CSIICCLTFGDK--EDTLVHA
Bovine RMRVQAGAPVTIQKEFSLLT CSIICYLTFGNK--EDTLVHA
Cat RMRAQAGTPVAIQKEFSFLT CSVICCLTFGDK--EDTLVHA
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.
Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: identification, functional characterization, and structural analysis.
Grischuk Y.; Rubtsov P.; Riepe F.G.; Groetzinger J.; Beljelarskaia S.; Prassolov V.; Kalintchenko N.; Semitcheva T.; Peterkova V.; Tiulpakov A.; Sippell W.G.; Krone N.;
J. Clin. Endocrinol. Metab. 91:4976-4980(2006)
Cited for: VARIANTS AH3 ARG-169; ARG-178; ARG-302 AND CYS-426; CHARACTERIZATION OF VARIANTS AH3 ARG-169; ARG-178; ARG-302; CYS-426 AND HIS-426; CATALYTIC ACTIVITY;
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.