Variant position: 143 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 VDMHLKQIEIKKFKYGIEEH GKVKMRGGLLRTYIISILFKS
Mouse VEMHLKQIEIKKFKYGIEEH GKVKMRGGLLRTYIISILFKS
Rat VEMHLKQIEIKKFKYGIEEH GKVKMRGGLLRTYIISILFKS
Pig VEMHLKQIEIKKFKYGIEEH GKVKMRGGLLRTYIISILFKS
Bovine VDMHLKQIEIKKFKYGIEEH GKVKMRGGLLRTYIISILFKS
Rabbit VEMHLKQIEIKKFKYGIEEH GKVKMRGGLLRTYIISILFKS
Chicken VDMHLKQIESKKFKYGIEEH GKVKMRGGLLRTYIISILFKS
Xenopus laevis VDMHLKQIEIKKFKYGLEEH GKVKMRGGLLRTYIISILFKS
Zebrafish VELHLKKIELKKFKHGLEEH GKVKMKGSLLRTYIFSIIFKS
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 – 382 Gap junction alpha-1 protein
98 – 155 Cytoplasmic
54 – 192
144 – 144 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly.
Richardson R.R.; Donnai D.; Meire F.; Dixon M.J.;
J. Med. Genet. 41:60-67(2004)
Cited for: VARIANTS ODDD PRO-27; MET-31; VAL-40; TYR-69; PRO-113; ASN-134; GLN-148 AND HIS-202; VARIANT SDTY3 SER-143;
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.