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UniProtKB/Swiss-Prot P15538: Variant p.Trp116Gly

Cytochrome P450 11B1, mitochondrial
Gene: CYP11B1
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Variant information Variant position: help 116
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Glycine (G) at position 116 (W116G, p.Trp116Gly).
Physico-chemical properties: help Change from large size and aromatic (W) to glycine (G)
BLOSUM score: help -2
Variant description: help In AH4; abolishes steroid 11-beta-hydroxylase activity.
Other resources: help


Sequence information Variant position: help 116
Protein sequence length: help 503
Location on the sequence: help DVEKLQQVDSLHPHRMSLEP W VAYRQHRGHKCGVFLLNGPE
Residue conservation: help 
Human                         DVEKLQQVDSLHPHRMSLEPWVAYRQHRGHKCGVFLLNGPE

Rat                           DAEKLHQVESILPHRMPLEPWVAHRELRGLRRGVFLLNGAD

Pig                           DVERCQKVEGLHPQRDVPGPWLAYRHLRGHKCGVFLLNGPT

Bovine                        DVERLQQADSHHPQRMILEPWLAYRQARGHKCGVFLLNGPQ

Sheep                         DVERLQQAESLHPQRMLLEPWLAYRQARGHKCGVFLLNGPQ
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 25 – 503 Cytochrome P450 11B1, mitochondrial
Helix 114 – 123



Literature citations
Functional consequences of seven novel mutations in the CYP11B1 gene: four mutations associated with nonclassic and three mutations causing classic 11{beta}-hydroxylase deficiency.
Parajes S.; Loidi L.; Reisch N.; Dhir V.; Rose I.T.; Hampel R.; Quinkler M.; Conway G.S.; Castro-Feijoo L.; Araujo-Vilar D.; Pombo M.; Dominguez F.; Williams E.L.; Cole T.R.; Kirk J.M.; Kaminsky E.; Rumsby G.; Arlt W.; Krone N.;
J. Clin. Endocrinol. Metab. 95:779-788(2010)
Cited for: VARIANTS AH4 SER-42; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; VAL-161 DEL; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; ASP-267; PRO-299; VAL-306; ARG-314; ARG-318; MET-318; PRO-318; MET-319; VAL-321; VAL-331; SER-341; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; GLY-384; VAL-386; ALA-401; HIS-427; PHE-438 DEL; GLY-441; ASP-444; CYS-448; HIS-448; GLN-453 AND SER-489; VARIANT GLN-43; CHARACTERIZATION OF VARIANTS AH4 SER-42; SER-83; ILE-88; LEU-94; CYS-116; GLY-116; ARG-125; MET-129; HIS-133; SER-135; LEU-139; PRO-158; LEU-159; ASP-165; ALA-196; 254-LYS--ALA-259 DEL; PRO-299; ARG-314; MET-318; MET-319; VAL-331; CYS-366; ASP-368; GLY-371; GLN-374; GLN-384; ALA-401; PHE-438 DEL; GLY-441; CYS-448; HIS-448 AND GLN-453; CHARACTERIZATION OF VARIANT GLN-43;
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.