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:
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 LLYLAHVFYVMRKEEKLNKK EEELKVA-QTDGVNVDMHLKQI
Mouse LLYLAHVFYVMRKEEKLNKK EEELKVA-QTDGVNVEMHLKQ
Rat LLYLAHVFYVMRKEEKLNKK EEELKVA-QTDGVNVEMHLKQ
Pig LLYLAHVFYVMRKEEKLNKK EEELKVA-QTDGVNVEMHLKQ
Bovine LLYLAHVFYVMRKEEKLNKK EEELKVVAQTDGANVDMHLKQ
Rabbit LLYLAHVFYVMRKEEKLNKK EEELKVA-QTDGVNVEMHLKQ
Chicken LLYLAHVFYVMRKEEKLNKR EEELKVV-QNDGVNVDMHLKQ
Xenopus laevis LLYLAHVFYLMRKEEKLNRK EEELKMV-QNEGGNVDMHLKQ
Zebrafish LLYLAHVFYLMRKEEKLNRK EEELKAV-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
1 – 382 Gap junction alpha-1 protein
100 – 154 Cytoplasmic
54 – 192
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;
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.