UniProtKB/Swiss-Prot Q9HBA0: Variant p.Tyr602Cys

Transient receptor potential cation channel subfamily V member 4
Gene: TRPV4
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Variant information Variant position:

602 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 Tyrosine (Y) to Cysteine (C) at position 602 (Y602C, p.Tyr602Cys). 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 (Y) to medium size and polar (C) 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
Polymorphism:

Genetic variations in TRPV4 determine the sodium serum level quantitative trait locus 1 (SSQTL1) [MIM:613508]. In some populations, variant Pro19Ser has been shown to be significantly associated with hyponatremia defined as serum sodium concentration below or equal to 135 mEq/L. Additional information on the polymorphism described.
Variant description:

Found in a patient with spondyloepiphyseal dysplasia Maroteaux type. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs267607150 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LVLGWMNALYFTRGLKLTGT Y SIMIQKILFKDLFRFLLVYL 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                         LVLGWMNALYFTRGLKLTGTYSIMIQKILFKDLFRFLLVYL

Mouse                         LVLGWMNALYFTRGLKLTGTYSIMIQKILFKDLFRFLLVYL

Rat                           LVLGWMNALYFTRGLKLTGTYSIMIQKILFKDLFRFLLVYL

Chicken                       LVLGWMNALYFTRGLKLTGTYSIMIQKILFKDLFRFLLVYL

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 – 871	Transient receptor potential cation channel subfamily V member 4
Topological domain	594 – 608	Cytoplasmic

Literature citations
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
Nishimura G.; Dai J.; Lausch E.; Unger S.; Megarbane A.; Kitoh H.; Kim O.H.; Cho T.J.; Bedeschi F.; Benedicenti F.; Mendoza-Londono R.; Silengo M.; Schmidt-Rimpler M.; Spranger J.; Zabel B.; Ikegawa S.; Superti-Furga A.;
Am. J. Med. Genet. A 152:1443-1449(2010)
Cited for: INVOLVEMENT IN SEDM; VARIANT PSTD HIS-594; VARIANTS LYS-183; CYS-602; LYS-797 AND LEU-799;

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.