UniProtKB/SwissProt variant VAR

Variant information

Variant position:

47

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

Type of variant:

US

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 Aspartate (D) to Asparagine (N) at position 47 (D47N, p.Asp47Asn).

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 acidic (D) to medium size and polar (N)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

1

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 CTRCT1; unknown pathological significance; abolishes localization to the plasma membrane and function.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121434643 [ dbSNP | Ensembl ]

Sequence information

Variant position:

47

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

Protein sequence length:

433

The length of the canonical sequence.

Location on the sequence:

TVLFIFRILILGTAAEFVWG D EQSDFVCNTQQPGCENVCYD

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                         TVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYD

Mouse                         TVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYD

Rat                           TVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYD

Sheep                         TVLFIFRILILGTAAEFVWGDEQSDFVCNTQQPGCENVCYD

Chicken                       TVLFIFRILILGTAAELVWGDEQSDFVCNTQQPGCENVCYD

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	2 – 433	Gap junction alpha-8 protein
Topological domain	43 – 71	Extracellular

Literature citations

A novel connexin50 mutation associated with congenital nuclear pulverulent cataracts.
Arora A.; Minogue P.J.; Liu X.; Addison P.K.; Russel-Eggitt I.; Webster A.R.; Hunt D.M.; Ebihara L.; Beyer E.C.; Berthoud V.M.; Moore A.T.;
J. Med. Genet. 45:155-160(2008)
Cited for: VARIANT CTRCT1 ASN-47; CHARACTERIZATION OF VARIANT CTRCT1 ASN-47; FUNCTION; SUBCELLULAR LOCATION;

Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.
Wang L.; Luo Y.; Wen W.; Zhang S.; Lu Y.;
Mol. Vis. 17:2380-2385(2011)
Cited for: VARIANT CTRCT1 ASN-47;

Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.
He W.; Li X.; Chen J.; Xu L.; Zhang F.; Dai Q.; Cui H.; Wang D.M.; Yu J.; Hu S.; Lu S.;
Ophthalmic Genet. 32:48-53(2011)
Cited for: VARIANT CTRCT1 ASN-47; CHARACTERIZATION OF VARIANT CTRCT1 ASN-47;

Mutation analysis of two families with inherited congenital cataracts.
Liang C.; Liang H.; Yang Y.; Ping L.; Jie Q.;
Mol. Med. Report. 12:3469-3475(2015)
Cited for: VARIANT CTRCT1 ASN-47; SUBCELLULAR LOCATION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P48165: Variant p.Asp47Asn