Variant position: 11 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 MGDWSALGKL LDKVQAYSTAGGKVWLSVLFI
Mouse MGDWSALGKL LDKVQAYSTAGGKVWLSVLFI
Rat MGDWSALGKL LDKVQAYSTAGGKVWLSVLFI
Pig MGDWSALGKL LDKVQAYSTAGGKVWLSVLFI
Bovine MGDWSALGKL LDKVQAYSTAGGKVWLSVLFI
Rabbit MGDWSALGKL LDKVQAYSTAGGKVWLSVLFI
Chicken MGDWSALGKL LDKVQAYSTAGGKVWLSVLFI
Xenopus laevis MGDWSALGRL LDKVQAYSTAGGKVWLSVLFI
Zebrafish MGDWSALGRL LDKVQAYSTAGGKVWLSVLFI
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
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;
Clinical and genetic variability of oculodentodigital dysplasia.
Wiest T.; Herrmann O.; Stoegbauer F.; Grasshoff U.; Enders H.; Koch M.J.; Grond-Ginsbach C.; Schwaninger M.;
Clin. Genet. 70:71-72(2006)
Cited for: VARIANTS ODDD GLU-96; PRO-113; ASN-154 AND TYR-220;
A novel GJA 1 mutation in oculo-dento-digital dysplasia with curly hair and hyperkeratosis.
Kelly S.C.; Ratajczak P.; Keller M.; Purcell S.M.; Griffin T.; Richard G.;
Eur. J. Dermatol. 16:241-245(2006)
Cited for: VARIANT ODDD PRO-11;
Oculodentodigital dysplasia: new ocular findings and a novel connexin 43 mutation.
Gabriel L.A.; Sachdeva R.; Marcotty A.; Rockwood E.J.; Traboulsi E.I.;
Arch. Ophthalmol. 129:781-784(2011)
Cited for: VARIANTS ODDD PRO-11 AND 41-VAL--ALA-44 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.