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UniProtKB/Swiss-Prot P29992: Variant p.Phe341Leu

Guanine nucleotide-binding protein subunit alpha-11
Gene: GNA11
Variant information

Variant position:  341
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Phenylalanine (F) to Leucine (L) at position 341 (F341L, p.Phe341Leu).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and aromatic (F) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In HYPOC2; induces an increase in sensitivity to changes in extracellular calcium concentrations.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   DKIIYSHFTCATDTENIRFV  F AAVKDTILQLNLKEYNLV
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                         DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

Mouse                         DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

Rat                           DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

Pig                           DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

Bovine                        DKIIYSHFTCATDTENIRFVFAAVKDTILQLNLKEYNLV

Xenopus laevis                DKIIYSHFTCATDTENIRFVFAAVKDTILQHNLKEYNLV

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.

TypePositionsDescription
Chain 1 – 359 Guanine nucleotide-binding protein subunit alpha-11
Domain 38 – 359 G-alpha
Binding site 331 – 331 GTP; via amide nitrogen
Helix 337 – 355


Literature citations

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;

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.