Sequence information
Variant position: 23 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:
DWSALGKLLDKVQAYSTAGG
K VWLSVLFIFRILLLGTAVES
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 DWSALGKLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Mouse DWSALGKLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Rat DWSALGKLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Pig DWSALGKLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Bovine DWSALGKLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Rabbit DWSALGKLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Chicken DWSALGKLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Xenopus laevis DWSALGRLLDKVQAYSTAGGK VWLSVLFIFRILLLGTAVES
Zebrafish DWSALGRLLDKVQAYSTAGGK VWLSVLFIFRILVLGTAVES
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
Topological domain
2 – 23
Cytoplasmic
Modified residue
5 – 5
Phosphoserine
Helix
22 – 39
Literature citations
Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia.
Paznekas W.A.; Boyadjiev S.A.; Shapiro R.E.; Daniels O.; Wollnik B.; Keegan C.E.; Innis J.W.; Dinulos M.B.; Christian C.; Hannibal M.C.; Jabs E.W.;
Am. J. Hum. Genet. 72:408-418(2003)
Cited for: NON-ASSOCIATION WITH NON-SYNDROMIC AUTOSOMAL RECESSIVE DEAFNESS; VARIANTS ODDD SER-17; PRO-18; ARG-21; GLU-22; THR-23; VAL-40; LYS-49; PHE-52 INS; SER-76; VAL-90; CYS-98; ASN-102; THR-130; GLU-134; ARG-138; HIS-202 AND LEU-216; VARIANT VAL-253;
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.