UniProtKB/Swiss-Prot Q9NQA5: Variant p.Thr563Ala

Transient receptor potential cation channel subfamily V member 5
Gene: TRPV5
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Variant information Variant position:

563 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Threonine (T) to Alanine (A) at position 563 (T563A, p.Thr563Ala). 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 medium size and polar (T) to small size and hydrophobic (A) 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
Other resources:

Links to websites of interest for the variant.

Variant rs4252499 [ dbSNP | Ensembl ]

Sequence information Variant position:

563 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

729 The length of the canonical sequence.
Location on the sequence:

APANYDVDLPFMFSIVNFAF T IIATLLMLNLFIAMMGDTHW 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                         APANYDVDLPFMFSIVNFAFTIIATLLMLNLFIAMMGDTHW

Mouse                         GPANYRVDLPFMYSVTYATFAIIATLLMLNLFIAMMGDTHW

Rat                           GPANYSVDLPFMYHLTYFAFAIIATLLMLNLFIAMMGDTHW

Rabbit                        GPANYSVDLPFMYCITYAAFAIIATLLMLNLFIAMMGDTHW

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
Chain	1 – 729	Transient receptor potential cation channel subfamily V member 5
Transmembrane	557 – 577	Helical
Alternative sequence	382 – 729	Missing. In isoform 2.

Literature citations
Molecular cloning, tissue distribution, and chromosomal mapping of the human epithelial calcium channel (ECAC1).
Mueller D.; Hoenderop J.G.; Meij I.C.; van den Heuvel L.P.J.; Knoers N.V.; den Hollander A.I.; Eggert P.; Garcia-Nieto V.; Claverie-Martin F.; Bindels R.J.M.;
Genomics 67:48-53(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-154 AND ALA-563; TISSUE SPECIFICITY; Structural conservation of the genes encoding CaT1, CaT2, and related cation channels.
Peng J.-B.; Brown E.M.; Hediger M.A.;
Genomics 76:99-109(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ARG-154 AND ALA-563; FUNCTION; TISSUE SPECIFICITY; Submission
Kelsell R.E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT ALA-563; Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS VAL-8; ARG-154; ALA-563 AND PHE-712; Submission
Mural R.J.; Istrail S.; Sutton G.G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS ARG-154 AND ALA-563;

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.