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:
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 TVLFIFRILILGTAAEFVWG DEQSDFVCNTQQPGCENVCYD
Mouse TVLFIFRILILGTAAEFVWG DEQSDFVCNTQQPGCENVCYD
Rat TVLFIFRILILGTAAEFVWG DEQSDFVCNTQQPGCENVCYD
Sheep TVLFIFRILILGTAAEFVWG DEQSDFVCNTQQPGCENVCYD
Chicken TVLFIFRILILGTAAELVWG DEQSDFVCNTQQPGCENVCYD
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
2 – 433 Gap junction alpha-8 protein
43 – 71 Extracellular
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;
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