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UniProtKB/Swiss-Prot Q9H1D0: Variant p.Gly451Glu

Transient receptor potential cation channel subfamily V member 6
Gene: TRPV6
Variant information

Variant position:  451
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 Glycine (G) to Glutamate (E) at position 451 (G451E, p.Gly451Glu).
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 glycine (G) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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 HRPTTN; induces cell death most likely through intracellular calcium overload; increased calcium ion import across plasma membrane; may lack intracellular calcium-dependent inactivation.
Any additional useful information about the variant.



Sequence information

Variant position:  451
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  765
The length of the canonical sequence.

Location on the sequence:   VTVIGAIIILLVEVPDIFRM  G VTRFFGQTILGGPFHVLIIT
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                         VTVIGAIIILLVEVPDIFRMGVTRFFGQTILGGPFHVLIIT

Mouse                         VSIVGAVIILLVEIPDIFRLGVTRFFGQTILGGPFHVIIIT

Rat                           VSIVGAVIILLVEIPDIFRLGVTRFFGQTILGGPFHVIIVT

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 – 765 Transient receptor potential cation channel subfamily V member 6
Topological domain 449 – 463 Cytoplasmic


Literature citations

TRPV6 Variants Interfere with Maternal-Fetal Calcium Transport through the Placenta and Cause Transient Neonatal Hyperparathyroidism.
Suzuki Y.; Chitayat D.; Sawada H.; Deardorff M.A.; McLaughlin H.M.; Begtrup A.; Millar K.; Harrington J.; Chong K.; Roifman M.; Grand K.; Tominaga M.; Takada F.; Shuster S.; Obara M.; Mutoh H.; Kushima R.; Nishimura G.;
Am. J. Hum. Genet. 102:1104-1114(2018)
Cited for: VARIANTS HRPTTN TYR-212; THR-223; GLN-425; ARG-428; GLU-451 AND TRP-483; VARIANT SER-18; CHARACTERIZATION OF VARIANTS HRPTTN TYR-212; THR-223; GLN-425; GLU-451; ARG-428 AND TRP-483; CHARACTERIZATION OF VARIANT SER-18; INVOLVEMENT IN HRPTTN; FUNCTION; SUBCELLULAR LOCATION;

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.