UniProtKB/Swiss-Prot O14520: Variant p.Arg12Cys

Aquaporin-7
Gene: AQP7
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Variant information Variant position:

12 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 Arginine (R) to Cysteine (C) at position 12 (R12C, p.Arg12Cys). 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 basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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 AQP7 are responsible for changes in glycerol release during exercise and define the glycerol quantitative trait locus (GLYCQTL) [MIM:614411]. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs139297434 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MVQASGHRRST R GSKMVSWSVIAKIQEILQRK 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                         MVQASGHRRSTRGSKMVSWSVIAKIQEILQRK

Mouse                         ---------------MAPRSVLETIQSVLQKN

Rat                           ----------------MAGSVLENIQSVLQKT

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 – 342	Aquaporin-7
Topological domain	1 – 35	Cytoplasmic
Modified residue	20 – 20	Phosphoserine
Alternative sequence	1 – 92	Missing. In isoform 2.
Mutagenesis	1 – 32	Missing. Decreased interaction with PLIN1.

Literature citations
Human aquaporin adipose (AQPap) gene. Genomic structure, promoter analysis and functional mutation.
Kondo H.; Shimomura I.; Kishida K.; Kuriyama H.; Makino Y.; Nishizawa H.; Matsuda M.; Maeda N.; Nagaretani H.; Kihara S.; Kurachi Y.; Nakamura T.; Funahashi T.; Matsuzawa Y.;
Eur. J. Biochem. 269:1814-1826(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; INVOLVEMENT IN GLYCQTL; VARIANTS CYS-12; LEU-59 AND VAL-264; CHARACTERIZATION OF VARIANT VAL-264; 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.