Variant position: 776 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 984 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 SSKPDTAENLLSTLNRLAGK QMIQVVKWAKVLPGFKNLPLE
Mouse NSKPDTAESLLSTLNRLAGK QMIQVVKWAKVLPGFKNLPLE
Rat NSKPDTAESLLSTLNRLAAK QMIQVVKWAKVLPGFKNLPLE
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 – 984 Mineralocorticoid receptor
726 – 964 NR LBD
770 – 770 Steroid
776 – 776 Steroid
672 – 788 Missing. In isoform 4.
707 – 984 Missing. In isoform 2.
767 – 767 S -> N. Loss of transcription transactivation.
767 – 767 S -> Q. Strong decrease of transcription transactivation.
770 – 770 N -> ADHQST. Abolishes aldosterone binding and transcription transactivation.
776 – 776 Q -> A. Reduces aldosterone binding and transcription transactivation.
782 – 782 K -> E. Decreased coactivator binding.
785 – 785 K -> E. Loss of coactivator binding.
796 – 796 E -> R. Decreased coactivator binding.
762 – 785
Different inactivating mutations of the mineralocorticoid receptor in fourteen families affected by type I pseudohypoaldosteronism.
Sartorato P.; Lapeyraque A.-L.; Armanini D.; Kuhnle U.; Khaldi Y.; Salomon R.; Abadie V.; Di Battista E.; Naselli A.; Racine A.; Bosio M.; Caprio M.; Poulet-Young V.; Chabrolle J.-P.; Niaudet P.; De Gennes C.; Lecornec M.-H.; Poisson E.; Fusco A.M.; Loli P.; Lombes M.; Zennaro M.-C.;
J. Clin. Endocrinol. Metab. 88:2508-2517(2003)
Cited for: CHARACTERIZATION OF VARIANTS PHA1A ARG-633; ARG-776; PRO-924 AND PRO-979;
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.