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UniProtKB/Swiss-Prot P08686: Variant p.Val212Leu

Steroid 21-hydroxylase
Gene: CYP21A2
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Variant information Variant position: help 212
Type of variant: help US
Residue change: help From Valine (V) to Leucine (L) at position 212 (V212L, p.Val212Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In AH3; uncertain significance; non-classic form.


Sequence information Variant position: help 212
Protein sequence length: help 495
Location on the sequence: help YKCIQEVLKTWSHWSIQIVD V IPFLRFFPNPGLRRLKQAIE
Residue conservation: help 
Human                         YKCIQEVLKTWSHWSIQIVDVIPFLRFFPNPGLRRLKQAIE

                              HDCVQDLMRTWEHWSIQMLDIIPFLRFFPNPGLWRLKRALE

Mouse                         HDCVQDLLQAWNHWSIQILTIIPLLRFLPNPGLQKLKQIQE

Rat                           HSCVRDLLKAWNHWSVQILDIIPFLRFFPNPGLWKLKQFQE

Pig                           HDCVQDLMKTWEHWSIQILDMVPFLRFFPSPGLRRLKQAIE

Bovine                        HDCVQDLMKTWDHWSIQILDMVPFLRFFPNPGLWRLKQAIE

Cat                           HDCVEDLMKSWEHWSIQVLDIVPFLRFFPNPGLRRLKQALE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 495 Steroid 21-hydroxylase
Helix 205 – 212



Literature citations
Molecular genetic analysis of nonclassic steroid 21-hydroxylase deficiency associated with HLA-B14,DR1.
Speiser P.W.; New M.I.; White P.C.;
N. Engl. J. Med. 319:19-23(1988)
Cited for: VARIANTS AH3 LEU-212 AND LEU-282;
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.