Variant position: 76 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 TQQPGCENVCYDRAFPISHI RFWALQIIFVSTPTLIYLGHV
Mouse TQQPGCENVCYDRAFPISHI RFWALQIIFVSTPTLIYLGHV
Rat TQQPGCENVCYDRAFPISHI RFWALQIIFVSTPTLIYLGHV
Bovine TQQPGCENVCYDRAFPISHV RFWVLQIIFVSTPTLIYLGHV
Sheep TQQPGCENVCYDRAFPISHV RFWVLQIIFVSTPTLIYLGHV
Chicken TQQPGCENVCYDKAFPISHI RFWVLQIIFVSTPTLIYLGHV
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
72 – 92 Helical
54 – 192
61 – 186
65 – 181
76 – 76 R -> EK. Abolishes formation of gap junctions. No significant effect on formation of functional hemichannels.
A novel mutation in the Connexin 46 gene causes autosomal dominant congenital cataract with incomplete penetrance.
Burdon K.P.; Wirth M.G.; Mackey D.A.; Russell-Eggitt I.M.; Craig J.E.; Elder J.E.; Dickinson J.L.; Sale M.M.;
J. Med. Genet. 41:E106-E106(2004)
Cited for: VARIANT CTRCT14 HIS-76;
Alterations at Arg76 of human connexin 46, a residue associated with cataract formation, cause loss of gap junction formation but preserve hemichannel function.
Abrams C.K.; Peinado A.; Mahmoud R.; Bocarsly M.; Zhang H.; Chang P.; Botello-Smith W.M.; Freidin M.M.; Luo Y.;
Am. J. Physiol. 5:C623-C635(2018)
Cited for: CHARACTERIZATION OF VARIANTS CTRCT14 GLY-76 AND HIS-76; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF ARG-76;
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.