Sequence information
Variant position: 362 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:
LPLLNATIAEVLRLRPVVPL
A LPHRTTRPSSISGYDIPEGT
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 LPLLNATIAEVLRLRPVVPLA LPHRTTRPSSISGYDIPEGT
Mouse LPLLMATIAEVLRLRPVVPLA LPHRATRASSISGYDIPKDM
Rat LPLLMATIAEVLRLRPVVPMA LPHRATKASSISGYDIPKDT
Pig LPLLNATIAEVLRLRPVVPLA LPHRATRPSSIFGYDIPEGT
Bovine LPLLNATIAEVLRLRPVVPLA LPHRTTRPSSIFGYDIPEGM
Cat LPLLTATIAEVLRLRPVVPLA LPHRTTRHSSILGYDIPEGT
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
Chain
1 – 494
Steroid 21-hydroxylase
Binding site
365 – 365
Literature citations
Steroid 21-hydroxylase deficiency: mutational spectrum in Denmark, three novel mutations, and in vitro expression analysis.
Ohlsson G.; Mueller J.; Skakkebaek N.E.; Schwartz M.;
Hum. Mutat. 13:482-486(1999)
Cited for: VARIANTS AH3 LEU-30; GLU-64; ASN-172; ASN-236; LEU-281; SER-291; TRP-356 AND VAL-362;
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.