Variant position: 341 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 359 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 DKIIYSHFTCATDTENIRFV FAAVKDTILQLNLKEYNLV
Mouse DKIIYSHFTCATDTENIRFV FAAVKDTILQLNLKEYNLV
Rat DKIIYSHFTCATDTENIRFV FAAVKDTILQLNLKEYNLV
Pig DKIIYSHFTCATDTENIRFV FAAVKDTILQLNLKEYNLV
Bovine DKIIYSHFTCATDTENIRFV FAAVKDTILQLNLKEYNLV
Xenopus laevis DKIIYSHFTCATDTENIRFV FAAVKDTILQHNLKEYNLV
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 – 359 Guanine nucleotide-binding protein subunit alpha-11
38 – 359 G-alpha
331 – 331 GTP; via amide nitrogen
337 – 355
Mutations affecting G-protein subunit alpha11 in hypercalcemia and hypocalcemia.
Nesbit M.A.; Hannan F.M.; Howles S.A.; Babinsky V.N.; Head R.A.; Cranston T.; Rust N.; Hobbs M.R.; Heath H. III; Thakker R.V.;
N. Engl. J. Med. 368:2476-2486(2013)
Cited for: VARIANTS HHC2 GLN-135 AND ILE-200 DEL; VARIANTS HYPOC2 GLN-181 AND LEU-341; CHARACTERIZATION OF VARIANTS HHC2 GLN-135 AND ILE-200 DEL; CHARACTERIZATION OF VARIANTS HYPOC2 GLN-181 AND LEU-341;
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.