Variant position: 208 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 405 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 CMEVNFFGALELTKGLLPLL RSSRGRIVTVGSPAGDMPYPC
Mouse CMEVNFFGALELTKGLLPLL RHSRGRIVTVGSPAGDMPYPC
Rat CMEVNFFGALELTKGLLPLL RHSRGRIVTVGSPAGDMPYPC
Bovine CMEVNFFGALEMTKGLLPLL RRSSGRIVTVSSPAGDMPFPC
Rabbit CMEVNFFGALELTKGLLPLL HHSRGRIVTLGSPAGEMPYPC
Sheep CMEVNFFGALEMTKGLLPLL RRSSGRIVTVSSPAGDMPFPC
Zebrafish CMEVNFFGTVTVTRTFLPLL RQSKGRIVTISSPSGEHPFPC
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
1 – 405 11-beta-hydroxysteroid dehydrogenase type 2
219 – 219
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess.
Wilson R.C.; Harbison M.D.; Krozowski Z.S.; Funder J.W.; Shackleton C.H.L.; Hanauske-Abel H.M.; Wei J.-Q.; Hertecant J.; Moran A.; Neiberger R.E.; Balfe J.W.; Fattah A.; Daneman D.; Licholai T.; New M.I.;
J. Clin. Endocrinol. Metab. 80:3145-3150(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 182-211; 235-264 AND 325-354; VARIANTS AME CYS-186; CYS-208; 250-PRO-SER-251 AND 337-ARG-TYR-338 DELINS HIS;
Human hypertension caused by mutations in the kidney isozyme of 11 beta-hydroxysteroid dehydrogenase.
Mune T.; Rogerson F.M.; Nikkilae H.; Agarwal A.K.; White P.C.;
Nat. Genet. 10:394-399(1995)
Cited for: CHARACTERIZATION OF VARIANTS AME CYS-208; CYS-213; 250-PRO-SER-251 AND 337-ARG-TYR-338 DELINS HIS;
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess.
Dave-Sharma S.; Wilson R.C.; Harbison M.D.; Newfield R.; Azar M.R.; Krozowski Z.S.; Funder J.W.; Shackleton C.H.L.; Bradlow H.L.; Wei J.-Q.; Hertecant J.; Moran A.; Neiberger R.E.; Balfe J.W.; Fattah A.; Daneman D.; Akkurt H.I.; De Santis C.; New M.I.;
J. Clin. Endocrinol. Metab. 83:2244-2254(1998)
Cited for: VARIANTS AME CYS-186; CYS-208; ASN-244; ARG-250; 250-PRO-SER-251; CYS-337 AND 337-ARG-TYR-338 DELINS HIS;
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.