Variant position: 63 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 435 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 DVWGDEQSDFTCNTQQPGCE NVCYDRAFPISHIRFWALQII
Mouse EVWGDEQSDFTCNTQQPGCE NVCYDRAFPISHIRFWALQII
Rat EVWGDEQSDFTCNTQQPGCE NVCYDRAFPISHIRFWALQII
Bovine EVWGDEQSDFTCNTQQPGCE NVCYDRAFPISHVRFWVLQII
Sheep EVWGDEQSDFTCNTQQPGCE NVCYDRAFPISHVRFWVLQII
Chicken EVWGDEQSDFTCNTQQPGCE NVCYDKAFPISHIRFWVLQII
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 – 435 Gap junction alpha-3 protein
41 – 71 Extracellular
54 – 192
61 – 186
76 – 76 R -> EK. Abolishes formation of gap junctions. No significant effect on formation of functional hemichannels.
Connexin46 mutations in autosomal dominant congenital cataract.
Mackay D.; Ionides A.; Kibar Z.; Rouleau G.; Berry V.; Moore A.; Shiels A.; Bhattacharya S.;
Am. J. Hum. Genet. 64:1357-1364(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS CTRCT14 SER-63 AND MET-299;
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.