Sequence information
Variant position: 27 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:
LGKLLDKVQAYSTAGGKVWL
S VLFIFRILLLGTAVESAWGD
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 LGKLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Mouse LGKLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Rat LGKLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Pig LGKLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Bovine LGKLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Rabbit LGKLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Chicken LGKLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Xenopus laevis LGRLLDKVQAYSTAGGKVWLS VLFIFRILLLGTAVESAWGD
Zebrafish LGRLLDKVQAYSTAGGKVWLS VLFIFRILVLGTAVESAWGD
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
Transmembrane
24 – 44
Helical
Helix
22 – 39
Literature citations
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;
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.