Variant position: 7 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 MGDWSA LGKLLDKVQAYSTAGGKVWLS
Mouse MGDWSA LGKLLDKVQAYSTAGGKVWLS
Rat MGDWSA LGKLLDKVQAYSTAGGKVWLS
Pig MGDWSA LGKLLDKVQAYSTAGGKVWLS
Bovine MGDWSA LGKLLDKVQAYSTAGGKVWLS
Rabbit MGDWSA LGKLLDKVQAYSTAGGKVWLS
Chicken MGDWSA LGKLLDKVQAYSTAGGKVWLS
Xenopus laevis MGDWSA LGRLLDKVQAYSTAGGKVWLS
Zebrafish MGDWSA LGRLLDKVQAYSTAGGKVWLS
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
1 – 13 Cytoplasmic
5 – 5 Phosphoserine
GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype.
Paznekas W.A.; Karczeski B.; Vermeer S.; Lowry R.B.; Delatycki M.; Laurence F.; Koivisto P.A.; Van Maldergem L.; Boyadjiev S.A.; Bodurtha J.N.; Jabs E.W.;
Hum. Mutat. 30:724-733(2009)
Cited for: VARIANTS ODDD VAL-7; VAL-40; PRO-49; GLN-49 INS; ALA-96; PRO-106; ALA-154; PHE-201 AND HIS-202;
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.