Variant position: 251 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 297 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 CWAPFVLHVLLMTFCPSNPY CACYMSLFQVNGMLIMCNAVI
Mouse CWAPFVLHVLLMTFCPNNPY CVCYMSLFQVNGMLIMCNAVI
Pig CWAPFVLHILLMTFCPADPY CACYLALFQVNAVLIMCNAII
Bovine CWAPFVLHVLLMTFCPADPY CACYMSLFQVNGVLIMCNAII
Sheep CWAPFVLHVLLMTFCPADPY CACYMSLFQVNGVLIMCNAVI
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 – 297 Adrenocorticotropic hormone receptor
245 – 256 Extracellular
Demonstration by transfection studies that mutations in the adrenocorticotropin receptor gene are one cause of the hereditary syndrome of glucocorticoid deficiency.
Naville D.; Barjhoux L.; Jaillard C.; Faury D.; Despert F.; Esteva B.; Durand P.; Saez J.M.; Begeot M.;
J. Clin. Endocrinol. Metab. 81:1442-1448(1996)
Cited for: VARIANTS GCCD1 ASN-107 AND PHE-251;
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.