Sequence information
Variant position: 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 382 The length of the canonical sequence.
Location on the sequence:
LLYLAHVFYVMRKEEKLNKK
E EELKVAQTDGVNVDMHLKQI
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 LLYLAHVFYVMRKEEKLNKKE EELKVA-QTDGVNVDMHLKQI
Mouse LLYLAHVFYVMRKEEKLNKKE EELKVA-QTDGVNVEMHLKQ
Rat LLYLAHVFYVMRKEEKLNKKE EELKVA-QTDGVNVEMHLKQ
Pig LLYLAHVFYVMRKEEKLNKKE EELKVA-QTDGVNVEMHLKQ
Bovine LLYLAHVFYVMRKEEKLNKKE EELKVVAQTDGANVDMHLKQ
Rabbit LLYLAHVFYVMRKEEKLNKKE EELKVA-QTDGVNVEMHLKQ
Chicken LLYLAHVFYVMRKEEKLNKRE EELKVV-QNDGVNVDMHLKQ
Xenopus laevis LLYLAHVFYLMRKEEKLNRKE EELKMV-QNEGGNVDMHLKQ
Zebrafish LLYLAHVFYLMRKEEKLNRKE EELKAV-QNDGGDVELHLKK
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 – 382
Gap junction alpha-1 protein
Topological domain
98 – 155
Cytoplasmic
Disulfide bond
54 – 192
Literature citations
Novel GJA1 mutations in patients with oculo-dento-digital dysplasia (ODDD).
Debeer P.; Van Esch H.; Huysmans C.; Pijkels E.; De Smet L.; Van de Ven W.; Devriendt K.; Fryns J.-P.;
Eur. J. Med. Genet. 48:377-387(2005)
Cited for: VARIANTS ODDD VAL-40; ASP-110; THR-147 AND PHE-169 DEL;
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.